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BIOMARKER:

BARD1 mutation

i
Other names: BRCA1 Associated RING Domain 1, RING-Type E3 Ubiquitin Transferase BARD1, BRCA1-Associated RING Domain Protein 1, BRCA1-Associated RING Domain Gene 1
Entrez ID:
9d
P2, N=43, Recruiting, Shadia Jalal, MD | Trial completion date: May 2022 --> May 2023 | Trial primary completion date: May 2021 --> May 2022
Clinical • Trial completion date • Trial primary completion date
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ARID1A (AT-rich interaction domain 1A) • CDK12 (Cyclin dependent kinase 12) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51 (RAD51 Homolog A) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • GEN1 (GEN1 Holliday junction 5' flap endonuclease)
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BRCA1 mutation • BRCA2 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • FANCA mutation • RAD51B mutation • BARD1 mutation • RAD54L mutation • NBN mutation
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Zejula (niraparib)
14d
We also discuss the current understanding of two well-established BRCA1/BARD1 substrates (nucleosomal H2A and estrogen receptor α) and several recently discovered substrates (p50, NF2, Oct1, and LARP7). Lessons from the current body of work should provide a road map to researchers examining novel substrates and biological functions attributed to BRCA1/BARD1 Ub ligase activity.
Journal • BRCA Biomarker
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ER (Estrogen receptor) • BRCA1 (Breast cancer 1, early onset) • BARD1 (BRCA1 Associated RING Domain 1) • SLC22A1 (Solute Carrier Family 22 Member 1)
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BRCA1 mutation • BARD1 mutation
16d
P4, N=181, Active, not recruiting, AstraZeneca | Trial completion date: Jun 2021 --> Sep 2021
Clinical • Trial completion date
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDK12 (Cyclin dependent kinase 12) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • MUC16 (Mucin 16, Cell Surface Associated) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BRCA (Breast cancer early onset) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)
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BRCA1 mutation • BRCA2 mutation • CHEK2 mutation • RAD51B mutation • BARD1 mutation • BRCA mutation
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Lynparza (olaparib)
18d
Trial suspension
|
PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • CDK4 (Cyclin-dependent kinase 4) • POLD1 (DNA Polymerase Delta 1) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • CHEK1 (Checkpoint kinase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • CDK2 (Cyclin-dependent kinase 2) • RAD52 (RAD52 Homolog DNA Repair Protein) • WRN (WRN RecQ Like Helicase) • BACH1 (BTB Domain And CNC Homolog 1) • FANCG (FA Complementation Group G) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) • RPA1 (Replication Protein A1) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2)
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BARD1 mutation • WRN mutation • RPA1 mutation
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Zejula (niraparib)
29d
P2, N=32, Recruiting, Memorial Sloan Kettering Cancer Center | Trial completion date: Feb 2022 --> Feb 2023 | Trial primary completion date: Feb 2022 --> Feb 2023
Trial completion date • Trial primary completion date
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PD-L1 (Programmed death ligand 1) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDK12 (Cyclin dependent kinase 12) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
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BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • FANCA mutation • BARD1 mutation • FANCA deletion
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Lynparza (olaparib) • Imfinzi (durvalumab)
1m
Herein, we reported the status of HRD using a cancer-panel for various solid tumor patients in routine clinical practice and demonstrated that HRD as a single biomarker was not sufficient to predict efficacy of ICIs in solid tumor patients.
Journal • Checkpoint inhibition • BRCA Biomarker • IO biomarker
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BRCA2 (Breast cancer 2, early onset) • ARID1A (AT-rich interaction domain 1A) • HRD (Homologous Recombination Deficiency) • BARD1 (BRCA1 Associated RING Domain 1)
|
ATM mutation • HRD • ARID1A mutation • BARD1 mutation
1m
Enrollment open
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CDK12 (Cyclin dependent kinase 12) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • BRCA (Breast cancer early onset) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)
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BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • RAD51B mutation • BARD1 mutation • RAD54L mutation • CHEK1 mutation • CHEK1 expression
|
FoundationOne® CDx
|
Trodelvy (sacituzumab govitecan-hziy) • berzosertib (M6620)
1m
Clinical • New P2 trial
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • PGR (Progesterone receptor) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • XRCC2 (X-Ray Repair Cross Complementing 2) • FANCC (FA Complementation Group C)
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BRCA1 mutation • BRCA2 mutation • HER-2 amplification • HER-2 negative • ATM mutation • HRD • PALB2 mutation • ER positive + PGR positive • PGR positive • RAD51D mutation • CHEK2 mutation • RAD51C mutation • BARD1 mutation • RAD51 mutation
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Keytruda (pembrolizumab) • Lynparza (olaparib)
1m
P1, N=146, Recruiting, Georgetown University | Trial primary completion date: Jul 2021 --> Aug 2022
Clinical • Trial primary completion date
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • KMT2D (Lysine Methyltransferase 2D) • BAP1 (BRCA1 Associated Protein 1) • ATRX (ATRX Chromatin Remodeler) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • CHEK1 (Checkpoint kinase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • WRN (WRN RecQ Like Helicase) • FANCG (FA Complementation Group G) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2)
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BARD1 mutation • WRN mutation
|
carboplatin • Zejula (niraparib)
2ms
P1/2, N=71, Not yet recruiting, Yonsei University | Trial completion date: Dec 2022 --> May 2023 | Initiation date: May 2021 --> Oct 2021 | Trial primary completion date: Jul 2022 --> Dec 2022
Clinical • Trial completion date • Trial initiation date • Trial primary completion date • Combination therapy
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CDK12 (Cyclin dependent kinase 12) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)
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HER-2 positive • BRCA1 mutation • BRCA2 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • RAD51B mutation • BARD1 mutation • CHEK1 mutation • CHEK1 expression
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Keytruda (pembrolizumab) • Lynparza (olaparib) • paclitaxel
2ms
We demonstrated that the usage of a multigene panel, beyond BRCA1/2, improves the diagnostic yield in OC testing and it could produce clinically relevant results.
Clinical • BRCA Biomarker • PARP Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
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BRCA1 mutation • BRCA2 mutation • PALB2 mutation • BRIP1 mutation • RAD51D mutation • RAD51C mutation • BARD1 mutation • RAD51 mutation
2ms
P2, N=47, Recruiting, University of Florida | Trial completion date: Dec 2022 --> Dec 2023 | Trial primary completion date: Dec 2021 --> Dec 2022
Trial completion date • Trial primary completion date
|
PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • CDK4 (Cyclin-dependent kinase 4) • POLD1 (DNA Polymerase Delta 1) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • CHEK1 (Checkpoint kinase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • CDK2 (Cyclin-dependent kinase 2) • RAD52 (RAD52 Homolog DNA Repair Protein) • WRN (WRN RecQ Like Helicase) • BACH1 (BTB Domain And CNC Homolog 1) • FANCG (FA Complementation Group G) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) • RPA1 (Replication Protein A1) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2)
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BARD1 mutation • WRN mutation • RPA1 mutation
|
Zejula (niraparib)
2ms
P2, N=20, Not yet recruiting, Massachusetts General Hospital
New P2 trial
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BAP1 (BRCA1 Associated Protein 1) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • XRCC2 (X-Ray Repair Cross Complementing 2) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
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BRCA1 mutation • ATM mutation • HRD • PALB2 mutation • BAP1 mutation • BRIP1 mutation • RAD51D mutation • RAD51C mutation • RAD51B mutation • BARD1 mutation • HRD + BRCA1 mutation • MRE11A mutation • RAD50 mutation • RAD54L mutation • NBN mutation
|
Zejula (niraparib)
3ms
P2, N=30, Not yet recruiting, West Cancer Center
New P2 trial
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CDK12 (Cyclin dependent kinase 12) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha) • FANCI (FA Complementation Group I)
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BRCA1 mutation • ATM mutation • HRD • PALB2 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • RAD51B mutation • BARD1 mutation • HRD + BRCA1 mutation • RAD54L mutation • FANCI mutation • RAD51 mutation
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Zejula (niraparib) • Jemperli (dostarlimab)
3ms
Recently, FDA has approved olaparib for adult patients (pts) with deleterious germline or somatic HRR gene-mutated metastatic castration-resistant prostate cancer... This study revealed the landscape of germline mutations in HRR pathway in Chinese cancer pts, which might result in more effective personalized diagnoses and therapies.
Retrospective data • BRCA Biomarker • PARP Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
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BRCA1 mutation • BRCA2 mutation • ATM mutation • PALB2 mutation • BRIP1 mutation • RAD51D mutation • RAD51C mutation • BARD1 mutation
|
Lynparza (olaparib)
3ms
Our study provides novel insights regarding the contribution of germline mutations to the pathogenesis of sarcomas. These findings have the potential to identify sarcoma patients who may benefit from precision therapy and genetic counseling.
BRCA Biomarker
|
TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • MSH6 (MutS homolog 6) • ERCC2 (Excision repair cross-complementation group 2) • PMS2 (PMS1 protein homolog 2) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51D (RAD51 paralog D) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L) • ERCC5 (ERCC Excision Repair 5 Endonuclease 2) • FANCM (FA Complementation Group M) • PMS1 (PMS1 protein homolog 1) • WRN (WRN RecQ Like Helicase) • XPA (XPA, DNA Damage Recognition And Repair Factor) • DICER1 (Dicer 1 Ribonuclease III) • FANCD2 (FA Complementation Group D2) • RECQL (RecQ Like Helicase) • RECQL4( RecQ Like Helicase 4)
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PALB2 mutation • RAD51D mutation • BARD1 mutation • RAD50 mutation
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Onco PanScan™
3ms
Clinical • New P2 trial
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • CDK12 (Cyclin dependent kinase 12) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)
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BRCA1 mutation • ATM mutation • CDK12 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • RAD51B mutation • BARD1 mutation • ATM positive
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docetaxel • senaparib (IMP4297)
3ms
P1/2, N=264, Active, not recruiting, AstraZeneca | Trial completion date: Jun 2021 --> Nov 2021 | Trial primary completion date: Jun 2021 --> Nov 2021
Clinical • Trial completion date • Trial primary completion date • Combination therapy • IO biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA (Breast cancer early onset)
|
PD-L1 expression • HER-2 negative • CDK12 mutation • BARD1 mutation
|
Lynparza (olaparib) • Avastin (bevacizumab) • Imfinzi (durvalumab)
3ms
A BARD1-CA125-based test is expected to work equally well for average-risk women and high-risk women with hereditary breast and ovarian cancer syndrome (HBOC). Although these results are promising, further data on well-characterised clinical samples shall be used to confirm the potential of the BARD1-CA125 test for ovarian cancer screening.
Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MUC16 (Mucin 16, Cell Surface Associated) • BARD1 (BRCA1 Associated RING Domain 1)
|
BRCA1 mutation • BRCA2 mutation • BARD1 mutation
4ms
P2, N=51, Completed, Southwest Oncology Group | Active, not recruiting --> Completed | Trial completion date: Dec 2024 --> Apr 2021 | Trial primary completion date: May 2022 --> Jan 2021
Clinical • Trial completion • Trial completion date • Trial primary completion date
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51 (RAD51 Homolog A) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • FANCF (FA complementation group F) • FANCM (FA Complementation Group M) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RPA1 (Replication Protein A1) • FANCC (FA Complementation Group C)
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BARD1 mutation • RPA1 mutation
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Talzenna (talazoparib)
4ms
P2, N=50, Recruiting, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins | Trial completion date: Mar 2022 --> Aug 2022 | Trial primary completion date: Aug 2021 --> Jan 2022
Trial completion date • Trial primary completion date
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CDK12 (Cyclin dependent kinase 12) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)
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BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • RAD51B mutation • BARD1 mutation • CHEK1 mutation • CHEK1 expression
|
Lynparza (olaparib)
4ms
Enrollment open
|
PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • CDK4 (Cyclin-dependent kinase 4) • POLD1 (DNA Polymerase Delta 1) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • CHEK1 (Checkpoint kinase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • CDK2 (Cyclin-dependent kinase 2) • RAD52 (RAD52 Homolog DNA Repair Protein) • WRN (WRN RecQ Like Helicase) • BACH1 (BTB Domain And CNC Homolog 1) • FANCG (FA Complementation Group G) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) • RPA1 (Replication Protein A1) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2)
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BARD1 mutation • WRN mutation • RPA1 mutation
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Zejula (niraparib)
4ms
P1b, N=102, Recruiting, National Cancer Institute (NCI) | Trial completion date: Jun 2021 --> Jun 2022 | Trial primary completion date: Jun 2021 --> Jun 2022
Clinical • Trial completion date • Trial primary completion date
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ARID1A (AT-rich interaction domain 1A) • CDK12 (Cyclin dependent kinase 12) • MSH2 (MutS Homolog 2) • ATRX (ATRX Chromatin Remodeler) • POLD1 (DNA Polymerase Delta 1) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • XRCC2 (X-Ray Repair Cross Complementing 2) • CD4 (CD4 Molecule)
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PIK3CA mutation • PTEN mutation • PALB2 mutation • CDK12 mutation • PIK3CA E545 • PIK3CA H1047 • BARD1 mutation • PIK3CA E542 • RAD51 mutation
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Lynparza (olaparib) • Imfinzi (durvalumab) • Aliqopa (copanlisib)
5ms
Conclusion The overall results represent the screening of pathogenic/likely pathogenic variants in high and moderate risk genes in HBOC patients using multigene panel testing. This study provides the basis for improved and more specific genetic testing of all actionable genes contributing to an increased risk of breast and ovarian cancer.
Clinical • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
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TP53 mutation • BRCA1 mutation • BRCA2 mutation • ATM mutation • PALB2 mutation • RAD51D mutation • CHEK2 mutation • BARD1 mutation • RAD51 mutation
5ms
Conclusion The overall results represent the screening of pathogenic/likely pathogenic variants in high and moderate risk genes in HBOC patients using multigene panel testing. This study provides the basis for improved and more specific genetic testing of all actionable genes contributing to an increased risk of breast and ovarian cancer.
Clinical • BRCA Biomarker
|
TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
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TP53 mutation • BRCA1 mutation • BRCA2 mutation • ATM mutation • PALB2 mutation • RAD51D mutation • CHEK2 mutation • BARD1 mutation • RAD51 mutation
5ms
Conclusion The overall results represent the screening of pathogenic/likely pathogenic variants in high and moderate risk genes in HBOC patients using multigene panel testing. This study provides the basis for improved and more specific genetic testing of all actionable genes contributing to an increased risk of breast and ovarian cancer.
Clinical • BRCA Biomarker
|
TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
|
TP53 mutation • BRCA1 mutation • BRCA2 mutation • ATM mutation • PALB2 mutation • RAD51D mutation • CHEK2 mutation • BARD1 mutation • RAD51 mutation
5ms
Conclusion The overall results represent the screening of pathogenic/likely pathogenic variants in high and moderate risk genes in HBOC patients using multigene panel testing. This study provides the basis for improved and more specific genetic testing of all actionable genes contributing to an increased risk of breast and ovarian cancer.
Clinical • BRCA Biomarker
|
TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
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TP53 mutation • BRCA1 mutation • BRCA2 mutation • ATM mutation • PALB2 mutation • RAD51D mutation • CHEK2 mutation • BARD1 mutation • RAD51 mutation
5ms
MMR deficiencies were detected in 34.9% of the endometrial cancer patients. Germline mutations were diagnosed in 3.0% of this cohort (5/166 patients). Lynch syndrome screening with MMR immunohistochemistry should be considered in all patients regardless of personal or family history of Lynch syndrome-related cancers.
Clinical • Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • PTEN (Phosphatase and tensin homolog) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • BARD1 (BRCA1 Associated RING Domain 1)
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BRCA1 mutation • PTEN mutation • BARD1 mutation • MLH1 mutation • PMS2 mutation
5ms
Trial suspension
|
PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • CDK4 (Cyclin-dependent kinase 4) • POLD1 (DNA Polymerase Delta 1) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • CHEK1 (Checkpoint kinase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • CDK2 (Cyclin-dependent kinase 2) • RAD52 (RAD52 Homolog DNA Repair Protein) • WRN (WRN RecQ Like Helicase) • BACH1 (BTB Domain And CNC Homolog 1) • FANCG (FA Complementation Group G) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) • RPA1 (Replication Protein A1) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2)
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BARD1 mutation • WRN mutation • RPA1 mutation
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Zejula (niraparib)
5ms
We demonstrated in cell and mouse models that, compared to the wild-type, (1) c.403G>A mutant cell lines were more sensitive to irradiation, a DNA damage agent, and a PARP inhibitor; (2) c.403G>A mutation inhibited interaction between BARD1 and RAD51 (but not BRCA1); and (3) c.403G>A mutant mice were hypersensitive to ionizing radiation. Our study shed lights on the clinical interpretation of rare germline mutations of BARD1.
Clinical • Journal • BRCA Biomarker • PARP Biomarker
|
BRCA1 (Breast cancer 1, early onset) • RAD51 (RAD51 Homolog A) • BARD1 (BRCA1 Associated RING Domain 1)
|
BRCA1 mutation • BARD1 mutation • RAD51 mutation
6ms
P2, N=41, Recruiting, California Pacific Medical Center Research Institute | Not yet recruiting --> Recruiting
Clinical • Enrollment open • Combination therapy
|
BRAF (B-raf proto-oncogene) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51 (RAD51 Homolog A) • ARID2 (AT-Rich Interaction Domain 2) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • BRCA (Breast cancer early onset)
|
BRCA1 mutation • BRCA2 mutation • BRAF mutation • BRAF V600 • ATM mutation • ARID1A mutation • BAP1 mutation • BRIP1 mutation • CHEK2 mutation • FANCA mutation • BARD1 mutation • RAD50 mutation
|
Keytruda (pembrolizumab) • Lynparza (olaparib)
6ms
Furthermore, NMR reveals an unexpected mode of E3-mediated substrate regulation through modulation of dynamics in the C-terminal tail of H2A. Our findings provide insight into how E3 ligases preferentially target nearby lysine residues in nucleosomes by a steric occlusion and distancing mechanism.
Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BARD1 (BRCA1 Associated RING Domain 1) • BMI1 (BMI1 proto-oncogene, polycomb ring finger)
|
BRCA1 mutation • BARD1 mutation
6ms
Our data indicated that genomic alterations associated with HRR-genes have a positive correlation with high TMB, and detection of HRR-gene mutation status probably could help identify patients who might benefit from immune checkpoint blockade therapy.
Tumor Mutational Burden • PD(L)-1 Biomarker • BRCA Biomarker • IO biomarker
|
TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • RB1 (RB Transcriptional Corepressor 1) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • KMT2D (Lysine Methyltransferase 2D) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • CHEK1 (Checkpoint kinase 1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • RAD52 (RAD52 Homolog DNA Repair Protein) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
|
PD-L1 expression • KRAS mutation • TMB-H • ATM mutation • HRD • PALB2 mutation • KMT2D mutation • BARD1 mutation • RAD50 mutation • BLM mutation • NBN mutation • CHEK1 expression
|
VENTANA PD-L1 (SP142) Assay
6ms
In our EOC series the concordance of two Laboratories in the identification of clinically relevant HRR mutations on tumor is high but discrepancies in interpretation remain a challenge that needs further harmonization.
Clinical • BRCA Biomarker • PARP Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L)
|
BRCA1 mutation • BRCA2 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • RAD51B mutation • BARD1 mutation • CHEK1 mutation • RAD51 mutation • CHEK1 expression
6ms
Our data suggest that detection of somatic mutations in HRR genes might contribute to identify patients who might benefit from immune checkpoint blockade therapy and PARP inhibitors . In addition, the molecular features of HRR provide new opportunities to predict the tumor response to multiple treatments . Exploring other biomarkers of HRD to predict the response to PARPi and immunotherapeutic in colon cancer is necessary.
Tumor Mutational Burden • PARP Biomarker • MSi-H Biomarker • BRCA Biomarker • IO biomarker
|
TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • CD8 (cluster of differentiation 8) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • IFNG (Interferon, gamma) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L)
|
BRCA2 mutation • MSI-H/dMMR • ATM mutation • HRD • CDK12 mutation • BRIP1 mutation • CHEK2 mutation • RAD51B mutation • BARD1 mutation • RAD51 mutation • CHEK1 expression
|
MSK-IMPACT
6ms
Of those with mBRCA who received olaparib, prior cisplatin exposure (n = 8) vs . Our study suggests olaparib may have anticancer activity in PDAC with certain HRD . In addition, olaparib may have a role outside maintenance therapy in PDAC with mBRCA . Prospective studies are needed to confirm these findings.
Clinical • BRCA Biomarker • PARP Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ARID1A (AT-rich interaction domain 1A) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • BAP1 (BRCA1 Associated Protein 1) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • FANCA (FA Complementation Group A) • RAD51 (RAD51 Homolog A) • CHEK1 (Checkpoint kinase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • BRCA (Breast cancer early onset)
|
BRCA1 mutation • BRCA2 mutation • ATM mutation • HRD • ARID1A mutation • PALB2 mutation • BAP1 mutation • BRIP1 mutation • FANCA mutation • BARD1 mutation • RAD50 mutation • CHEK1 mutation • BRCA mutation • CHEK1 expression
|
Lynparza (olaparib) • cisplatin
6ms
CtDNA can characterize the mutational feature of HRR in BC . our study contributes to the understanding of the HRR pathways and specific genetic alterations harbored by Chinese patients with BC that could potentially be developed as markers of treatment response to targeted therapeutics . Ref: Razavi P, Chang MT, Xu GT, et al .
BRCA Biomarker • PARP Biomarker • Circulating tumor DNA
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1)
|
BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • FANCA mutation • RAD51B mutation • BARD1 mutation • RAD54L mutation • CHEK1 mutation • RAD51 mutation • CHEK1 expression
6ms
Co-existence of BRAF V600E/BRCA1/2 may represent a unique subset of advanced MSS CRC that may have a better prognosis and represent an opportunity to test novel targeted therapies . Larger prospective clinical validation trials in this subset is warranted.
Clinical • MSi-H Biomarker • BRCA Biomarker
|
BRAF (B-raf proto-oncogene) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • BRCA (Breast cancer early onset) • FANCL (FA Complementation Group L)
|
BRAF V600E • BRCA1 mutation • BRCA2 mutation • MSI-H/dMMR • BRAF V600 • PALB2 mutation • CDK12 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • RAD51B mutation • BARD1 mutation • RAD54L mutation • BRCA mutation • CHEK1 expression
6ms
Our data suggest that patients with altered HRR genes may be rational candidates for precision oncology treatment and provide new opportunities to predict the tumor response to multiple treatments, such as immunotherapeutic combine PARP inhibitor (PARPi) therapy . Exploring other biomarkers of HRD to predict the response to PARPi and immunotherapeutic in GC is necessary.
Tumor Mutational Burden • PARP Biomarker • BRCA Biomarker • IO biomarker
|
TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • RAD51B (RAD51 Paralog B) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L)
|
BRCA1 mutation • BRCA2 mutation • ATM mutation • HRD • PALB2 mutation • CDK12 mutation • RAD51D mutation • BARD1 mutation • HRD + BRCA1 mutation
|
MSK-IMPACT
6ms
Background: The phase II trial WSG-ADAPT TN randomized triple-negative breast cancer (TNBC) patients to receive 12 weeks of neoadjuvant nab-paclitaxel (nab-pac) combined with carboplatin (carbo) vs gemcitabine (gem) and showed a substantial improvement of pathological complete response (pCR: ypT0/is, ypN0) with carbo (45.9% vs 28.7%) . Twelve weeks of neoadjuvant nab-pac/carbo is a highly effective anthracycline-free regimen that leads to an excellent pCR-rate of 64% in tumor BRCA1/2-mutated cases . BRCA1/2 mutation status could support this de-escalation strategy in early TNBC, but further prospective validation of survival impacts in larger cohorts and with longer follow up is needed . More detailed survival analyses will be presented at the meeting.
Clinical • P2 data • BRCA Biomarker
|
TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • PALB2 (Partner and localizer of BRCA2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CDH1 (Cadherin 1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • BRCA (Breast cancer early onset) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • FANCM (FA Complementation Group M) • XRCC2 (X-Ray Repair Cross Complementing 2) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
|
TP53 mutation • ATM mutation • PTEN mutation • PTEN deletion • STK11 mutation • PALB2 mutation • BRIP1 mutation • CHEK2 mutation • RAD51C mutation • BARD1 mutation • MRE11A mutation • RAD50 mutation • BRCA mutation • FANCM mutation • NBN mutation • RAD51 mutation
|
carboplatin • gemcitabine • Abraxane (albumin-bound paclitaxel)
6ms
P1/2, N=264, Active, not recruiting, AstraZeneca | N=427 --> 264 | Trial completion date: Aug 2022 --> Jun 2021 | Trial primary completion date: Aug 2022 --> Jun 2021
Clinical • Enrollment change • Trial completion date • Trial primary completion date • Combination therapy • IO biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA (Breast cancer early onset)
|
PD-L1 expression • HER-2 negative • CDK12 mutation • BARD1 mutation
|
Lynparza (olaparib) • Avastin (bevacizumab) • Imfinzi (durvalumab)
6ms
P1/2, N=71, Recruiting, Yonsei University | Not yet recruiting --> Recruiting | Initiation date: Dec 2020 --> May 2021
Clinical • Enrollment open • Trial initiation date • Combination therapy
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CDK12 (Cyclin dependent kinase 12) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)
|
HER-2 positive • BRCA1 mutation • BRCA2 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • RAD51B mutation • BARD1 mutation • CHEK1 mutation • CHEK1 expression
|
Keytruda (pembrolizumab) • Lynparza (olaparib) • paclitaxel
6ms
Moreover, BRCA2 was demonstrated as an independent predictor of reduced survival using independent Cox proportional hazard models. We reveal the landscape of the mutations associated with BCa in Saudi women, highlighting the importance of routine genetic sequencing in implementation of precision therapies in KSA.
Clinical • Journal • BRCA Biomarker
|
TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • NF1 (Neurofibromin 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1)
|
TP53 mutation • BRCA1 mutation • BRCA2 mutation • PIK3CA mutation • MSH2 mutation • BARD1 mutation • RAD50 mutation • PMS2 mutation
7ms
New P1/2 trial
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CDK12 (Cyclin dependent kinase 12) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • BRCA (Breast cancer early onset) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)
|
BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • RAD51B mutation • BARD1 mutation • RAD54L mutation • CHEK1 mutation • CHEK1 expression
|
FoundationOne® CDx
|
Trodelvy (sacituzumab govitecan-hziy) • berzosertib (M6620)
7ms
Early rates of distant, nipple and other locoregional recurrence are low after NSM in carriers of risk genes other than BRCA1 and BRCA2. Incidental cancers were seen only in carriers of genes known to be associated with breast cancer risk.
Clinical • BRCA Biomarker
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • CDH1 (Cadherin 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • BRCA (Breast cancer early onset) • MUTYH (MutY homolog) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
|
TP53 mutation • BRCA1 mutation • BRCA2 mutation • ATM mutation • PTEN mutation • PALB2 mutation • CHEK2 mutation • MSH2 mutation • BRCA1 mutation + BRCA2 mutation • BARD1 mutation • RAD50 mutation • BRCA mutation • NBN mutation
7ms
P2, N=20, Recruiting, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins | Trial completion date: Mar 2022 --> Mar 2023 | Trial primary completion date: Mar 2021 --> Mar 2022
Clinical • Trial completion date • Trial primary completion date
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BAP1 (BRCA1 Associated Protein 1) • CDK12 (Cyclin dependent kinase 12) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L)
|
BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • RAD51B mutation • BARD1 mutation • RAD54L mutation • CHEK1 mutation • RAD51 mutation • CHEK1 expression
|
Lynparza (olaparib)
7ms
We first described the prevalence of somatic and/or germline HRR mutations detected by ctDNA-based NGS in a Chinese solid tumor cohort. Further prospective study is needed to compare the impact of the HRR status identified by ctDNA and ttDNA NGS on PARPis efficacy.
Clinical • Next-generation sequencing • BRCA Biomarker • PARP Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • BARD1 (BRCA1 Associated RING Domain 1) • BRCA (Breast cancer early onset)
|
BRCA1 mutation • ATM mutation • PALB2 mutation • CHEK2 mutation • FANCA mutation • BARD1 mutation • BRCA mutation
7ms
P2, N=30, Active, not recruiting, Massachusetts General Hospital | N=223 --> 30
Enrollment change
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • ATM (ATM serine/threonine kinase) • ARID1A (AT-rich interaction domain 1A) • CCNE1 (Cyclin E1) • CDK12 (Cyclin dependent kinase 12) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • ATRX (ATRX Chromatin Remodeler) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • FANCF (FA complementation group F) • FANCM (FA Complementation Group M) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • FANCC (FA Complementation Group C)
|
BRCA1 mutation • BRCA2 mutation • ATM mutation • ARID1A mutation • MYC amplification • CDK12 mutation • CCNE1 amplification • ATRX mutation • BRIP1 mutation • FBXW7 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • FANCA mutation • RAD51B mutation • BARD1 mutation • FANCF mutation • MRE11A mutation • FANCM mutation • NBN mutation
|
berzosertib (M6620)
7ms
P2, N=423, Active, not recruiting, M.D. Anderson Cancer Center | Recruiting --> Active, not recruiting | N=300 --> 423
Clinical • Enrollment closed • Enrollment change
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
|
BARD1 mutation
7ms
Taken together, we have presented the spectrum of pathogenic germline mutations in a Chinese head and neck cancer cohort. The findings of inherited genetic variations may provide clues for the oncology treatment strategy and cancer prevention.
Clinical • PD(L)-1 Biomarker • MSi-H Biomarker • BRCA Biomarker • IO biomarker • Next-generation sequencing
|
PD-L1 (Programmed death ligand 1) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • CD74 (CD74 Molecule) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • FANCA (FA Complementation Group A) • BCL2L11 (BCL2 Like 11) • RAC1 (Rac Family Small GTPase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • DPYD (Dihydropyrimidine Dehydrogenase) • FANCD2 (FA Complementation Group D2)
|
PD-L1 expression • MSI-H/dMMR • FANCA mutation • BARD1 mutation • RAD50 mutation
|
PD-L1 IHC 22C3 pharmDx
7ms
P2, N=50, Recruiting, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins | Trial primary completion date: Mar 2021 --> Aug 2021
Trial primary completion date
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CDK12 (Cyclin dependent kinase 12) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)
|
BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • RAD51B mutation • BARD1 mutation • CHEK1 mutation • CHEK1 expression
|
Lynparza (olaparib)
8ms
Neither of the single mutations causes a functional change, but together they synergetically impair the DNA damage response and lead to tumors in vitro and in vivo. Thus, our report not only demonstrates that BARD1 defects account for tumorigenesis but also uncovers the potential risk of synergetic effects between the large number of cis mutations in individual genes in the human genome.
Journal
|
BARD1 (BRCA1 Associated RING Domain 1)
|
BARD1 mutation
8ms
Clinical • New P2 trial • Pan tumor
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • PBRM1 (Polybromo 1) • CDK12 (Cyclin dependent kinase 12) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51 (RAD51 Homolog A) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • ARID2 (AT-Rich Interaction Domain 2) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
|
HER-2 positive • HER-2 amplification • DDR • CDK12 mutation • PBRM1 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • FANCA mutation • BARD1 mutation • NBN mutation
|
Zejula (niraparib) • Jemperli (dostarlimab)
8ms
Mutations in DDR genes were present in 22% of patients with mCRC. In patients with DDR-mutated tumors, initial treatment with FOLFOX/XELOX correlated with improved OS and a numerically higher RR compared with FOLFIRI.
Clinical • Clinical data • Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L)
|
BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • RAD51B mutation • BARD1 mutation • RAD54L mutation • CHEK1 mutation • RAD51 mutation • CHEK1 expression
|
oxaliplatin • irinotecan
8ms
P1, N=146, Recruiting, Georgetown University | Trial primary completion date: Jul 2020 --> Jul 2021
Clinical • Trial primary completion date
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • KMT2D (Lysine Methyltransferase 2D) • BAP1 (BRCA1 Associated Protein 1) • ATRX (ATRX Chromatin Remodeler) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • CHEK1 (Checkpoint kinase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • WRN (WRN RecQ Like Helicase) • FANCG (FA Complementation Group G) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2)
|
BARD1 mutation • WRN mutation
|
carboplatin • Zejula (niraparib)
8ms
P2, N=223, Active, not recruiting, Massachusetts General Hospital | Recruiting --> Active, not recruiting
Enrollment closed
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • ATM (ATM serine/threonine kinase) • ARID1A (AT-rich interaction domain 1A) • CCNE1 (Cyclin E1) • CDK12 (Cyclin dependent kinase 12) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • ATRX (ATRX Chromatin Remodeler) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • FANCF (FA complementation group F) • FANCM (FA Complementation Group M) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • FANCC (FA Complementation Group C)
|
BRCA1 mutation • BRCA2 mutation • ATM mutation • ARID1A mutation • MYC amplification • CDK12 mutation • CCNE1 amplification • ATRX mutation • BRIP1 mutation • FBXW7 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • FANCA mutation • RAD51B mutation • BARD1 mutation • FANCF mutation • MRE11A mutation • FANCM mutation • NBN mutation
|
berzosertib (M6620)
9ms
Clinical • P2 data • Journal • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
|
PD-L1 (Programmed death ligand 1) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • STK11 (Serine/threonine kinase 11) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • ATRX (ATRX Chromatin Remodeler) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51 (RAD51 Homolog A) • STAG2 (Stromal Antigen 2) • CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) • CHEK1 (Checkpoint kinase 1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • FANCF (FA complementation group F) • HDAC2 (Histone deacetylase 2)
|
BRCA1 mutation • ATM mutation • PALB2 mutation • CHEK2 mutation • FANCA mutation • BARD1 mutation • FANCF mutation • RAD50 mutation • BLM mutation
|
Lynparza (olaparib) • Imfinzi (durvalumab) • tremelimumab (CP-675206)
10ms
The frequency of NEIL1 c.C883T (p.T278I) heterozygotes was equal in both groups (3.2%) and no new instances homozygotes for this genotype was identified. Conclusion The results of this study justify an extended analysis of germ-line mutations in DNA repair genes in young-onset and/or ALK/ROS1/RET fusion-positive lung cancer patients.
Clinical • BRCA Biomarker
|
ALK (Anaplastic lymphoma kinase) • BRCA2 (Breast cancer 2, early onset) • RET (Ret Proto-Oncogene) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • ATM (ATM serine/threonine kinase) • CHEK2 (Checkpoint kinase 2) • BARD1 (BRCA1 Associated RING Domain 1)
|
ALK positive • ATM mutation • RET fusion • ALK rearrangement • ALK fusion • ROS1 positive • RET rearrangement • ROS1 fusion • CHEK2 mutation • BARD1 mutation • RET positive
10ms
However, animals carrying GPRC5A heterozygous inactivating mutations showed a trend towards elevated occurrence of carcinogen-induced lung neoplasms (9/13 (69%) in females; 11/14 (79%) in males; 20/27 (74%) in pooled males/females; р = 0.06 when compared to controls). Conclusion These data support evidences for involvement of GPRC5A gene in pathogenesis of lung cancer.
BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • CHEK2 (Checkpoint kinase 2) • BARD1 (BRCA1 Associated RING Domain 1)
|
BRCA1 mutation • CHEK2 mutation • BARD1 mutation • BLM mutation
10ms
A comparison of HRD features in BC revealed that BRCA1 exerts a stronger influence inducing HRD features than BRCA2 does. It reveals genetic differences between BRCA1 and BRCA2 and provides a basis for the identification of HRD and other BRCA-associated tumors.
Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • BARD1 (BRCA1 Associated RING Domain 1) • BRCA (Breast cancer early onset)
|
BRCA1 mutation • BRCA2 mutation • HRD • BRIP1 mutation • BARD1 mutation • HRD + BRCA1 mutation • BRCA mutation
11ms
Clinical • New P2 trial • Combination therapy • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker
|
BRAF (B-raf proto-oncogene) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51 (RAD51 Homolog A) • ARID2 (AT-Rich Interaction Domain 2) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • BRCA (Breast cancer early onset)
|
BRCA1 mutation • BRCA2 mutation • BRAF mutation • BRAF V600 • ATM mutation • ARID1A mutation • BAP1 mutation • BRIP1 mutation • CHEK2 mutation • FANCA mutation • BARD1 mutation • RAD50 mutation
|
Keytruda (pembrolizumab) • Lynparza (olaparib)
11ms
Our findings confirm previously known relationships between molecular signatures and germline or somatic events in BRCA1/BRCA2. Our methodology represents an objective way to identify genes that have similar downstream effects on molecular signatures when mutated, deleted, or hypermethylated.
Journal • BRCA Biomarker • PARP Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • BARD1 (BRCA1 Associated RING Domain 1) • BRCA (Breast cancer early onset) • CTNNA1 (Catenin Alpha 1) • SDHC (Succinate Dehydrogenase Complex Subunit C)
|
BRCA1 mutation • BRCA2 mutation • BRCA2 deletion • BRCA1 mutation + BRCA2 mutation • BARD1 mutation • BRCA1 deletion • BRCA mutation • BRCA1 hypermethylation
11ms
In summary. Our analysis indicates that a significant fraction of adult patients with BMF are carriers of predisposition variants with broad clinical and social implications.
Clinical • BRCA Biomarker
|
TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • PALB2 (Partner and localizer of BRCA2) • RUNX1 (RUNX Family Transcription Factor 1) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • MRE11A (MRE11 homolog, double strand break repair nuclease) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • CUX1 (cut like homeobox 1) • FANCL (FA Complementation Group L) • FANCI (FA Complementation Group I) • FANCM (FA Complementation Group M)
|
PALB2 mutation • BARD1 mutation • FANCM mutation
12ms
No mutation was identified in RAD51, MRE11A, FAM175A, XRCC2, or MLH3. The involvement of these genes in the hereditary predisposition to cancer cannot be ruled out, although if it exists it is rare or does not seem to involve truncating variants.
Clinical • Journal
|
RAD51B (RAD51 Paralog B) • RAD51 (RAD51 Homolog A) • MRE11A (MRE11 homolog, double strand break repair nuclease) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • FANCM (FA Complementation Group M) • PMS1 (PMS1 protein homolog 1)
|
RAD51B mutation • BARD1 mutation • MRE11A mutation • RAD50 mutation • MLH3 mutation • FANCM mutation • RAD51 mutation
12ms
P2, N=32, Recruiting, Memorial Sloan Kettering Cancer Center | Trial completion date: Feb 2021 --> Feb 2022 | Trial primary completion date: Feb 2021 --> Feb 2022
Trial completion date • Trial primary completion date • PARP Biomarker • PD(L)-1 Biomarker
|
PD-L1 (Programmed death ligand 1) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDK12 (Cyclin dependent kinase 12) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
|
BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • FANCA mutation • BARD1 mutation • FANCA deletion
|
Lynparza (olaparib) • Imfinzi (durvalumab)
12ms
Clinical • New P1/2 trial • Combination therapy • PARP Biomarker • PD(L)-1 Biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CDK12 (Cyclin dependent kinase 12) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)
|
HER-2 positive • BRCA1 mutation • BRCA2 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • RAD51B mutation • BARD1 mutation • CHEK1 mutation • CHEK1 expression
|
Keytruda (pembrolizumab) • Lynparza (olaparib) • paclitaxel
1year
This study demonstrates that germline mutation carrier status in PDAC is associated with longer OS compared to non-carriers. Further research into tumor biology and response to platinum-based chemotherapy in germline mutation carriers with PDAC are needed to better understand the association with longer OS.
Clinical • Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
|
BRCA1 mutation • ATM mutation • PALB2 mutation • RAD51D mutation • RAD51C mutation • BARD1 mutation
1year
This is a comprehensive analysis of germline mutation spectrum in a large Chinese patient cohort with breast cancer. Collectively, a substantial proportion of patients with breast cancer had hereditary risk factors. Distinct distribution of pathogenic mutations in breast cancer subtypes and differential associations between mutation status and clinical features were further observed.
Clinical • BRCA Biomarker
|
TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • FANCM (FA Complementation Group M) • FANCD2 (FA Complementation Group D2)
|
BRCA1 mutation • BRCA2 mutation • ATM mutation • CHEK2 mutation • BARD1 mutation • RAD50 mutation • PMS2 mutation • FANCM mutation
|
PredicineATLAS™
1year
Among patients with positive HRD scores, up to 51% were negative by %LOH and up to 63% were negative by the 11-gene panel. Only 3% of patients identified as positive by %LOH and 7% positive by the 11-gene panel were negative by HRD score. Conclusions/Implications: These data show that HR deficiency tests used in clinical trials are not equivalent and should not be considered interchangeable in predicting PARP inhibitor response in clinical practice.
BRCA Biomarker • PARP Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • MRE11A (MRE11 homolog, double strand break repair nuclease) • BARD1 (BRCA1 Associated RING Domain 1)
|
ATM mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • BARD1 mutation • MRE11A mutation • NBN mutation
1year
HR-MT was common across breast cancer subtypes and co-occurred more frequently with markers of response to immunotherapy (MSI-H/dMMR, TMB) compared to HR-WT tumors. Mutations were identified in both HR-MT and HR-WT tumors that suggest other targets for treatment. Clinical trials combining HRD-targeted agents and immunotherapy are underway and could be enriched through comprehensive molecular profiling.
Journal • BRCA Biomarker • MSi-H Biomarker • PARP Biomarker • PD(L)-1 Biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • ATM (ATM serine/threonine kinase) • ARID1A (AT-rich interaction domain 1A) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • PALB2 (Partner and localizer of BRCA2) • KMT2D (Lysine Methyltransferase 2D) • BAP1 (BRCA1 Associated Protein 1) • ATRX (ATRX Chromatin Remodeler) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • FANCA (FA Complementation Group A) • CHEK1 (Checkpoint kinase 1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • WRN (WRN RecQ Like Helicase)
|
BRCA1 mutation • MSI-H/dMMR • PD-L1 overexpression • PIK3CA mutation • ATM mutation • ARID1A mutation • BAP1 mutation • ATRX mutation • BRIP1 mutation • AR overexpression • FANCA mutation • BARD1 mutation • RAD50 mutation • BLM mutation • CHEK1 mutation • NBN mutation • PIK3CA overexpression • CHEK1 expression
1year
Clinical • New P2 trial • BRCA Biomarker • PARP Biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • BAP1 (BRCA1 Associated Protein 1) • CDK12 (Cyclin dependent kinase 12) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • FANCF (FA complementation group F) • FANCM (FA Complementation Group M) • WRN (WRN RecQ Like Helicase) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • FANCC (FA Complementation Group C)
|
HER-2 positive • BRCA1 mutation • BRCA2 mutation • HR positive • HER-2 negative • ATM mutation • PALB2 mutation • CDK12 mutation • BAP1 mutation • BRIP1 mutation • CHEK2 mutation • RAD51C mutation • FANCA mutation • BARD1 mutation • FANCF mutation • MRE11A mutation • RAD50 mutation • BLM mutation • CHEK1 mutation • HR positive + HER-2 negative • FANCM mutation • NBN mutation • CHEK1 expression
|
Herceptin (trastuzumab) • Zejula (niraparib) • pucotenlimab (HX008)
1year
Some of these molecular results could contribute to cancer diagnosis, treatment selection and prevention. We found a statistically significant association between tumour diversity in the family and carrying a variant with a high score predicting pathogenicity (p = 0.0003).
Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
|
BRCA1 mutation • BRCA2 mutation • ATM mutation • PALB2 mutation • BRIP1 mutation • RAD51D mutation • RAD51C mutation • BARD1 mutation • RAD51 mutation
1year
In S-G2 phase, the number of centrioles was higher in mammary tissue-derived cells than in cells from other tissues, suggesting their involvement in tissue-specific carcinogenesis by BRCA1 and BARD1 germline mutations. We described the function of BARD1 in centrosome regulation in cooperation with BRCA1/OLA1/RACK1, as well as the effect of their dysfunction on carcinogenesis.
Review • Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BARD1 (BRCA1 Associated RING Domain 1)
|
BARD1 mutation
1year
We will then focus on evaluating the common BARD1 related SNPs as well as genetic and epigenetic changes that occur in the non-BRCA1-dominant cancers, including neuroblastoma, lung, and gastrointestinal cancers. Furthermore, the pro- and anti-tumorigenic functions of different SNPs and BARD1 variants will also be discussed.
Review • Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BARD1 (BRCA1 Associated RING Domain 1)
|
BRCA1 mutation • BARD1 mutation
1year
Legal entity responsible for the study: The authors. Funding: This study has been supported by the Russian Science Foundation.
Clinical
|
ALK (Anaplastic lymphoma kinase) • CHEK2 (Checkpoint kinase 2) • BARD1 (BRCA1 Associated RING Domain 1)
|
ALK positive • ALK fusion • BARD1 mutation
1year
Legal entity responsible for the study: The authors. Funding: Has not received any funding.
Clinical • BRCA Biomarker
|
TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • MSH6 (MutS homolog 6) • ERCC2 (Excision repair cross-complementation group 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CDH1 (Cadherin 1) • MSH3 (MutS Homolog 3) • MRE11A (MRE11 homolog, double strand break repair nuclease) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • EPCAM (Epithelial cell adhesion molecule) • MUTYH (MutY homolog) • FANCM (FA Complementation Group M) • WRN (WRN RecQ Like Helicase) • FANCD2 (FA Complementation Group D2) • RECQL4( RecQ Like Helicase 4)
|
TP53 mutation • ATM mutation • PALB2 mutation • BARD1 mutation • NBN mutation • RECQL4 mutation
1year
In addition, the BARD1 mutational spectrum outlined in this study allowed us to determine recurrent PVs and evaluate the variant-specific risk for the most frequent PVs. In conclusion, these precise estimates improve the understanding of the role of BARD1 PVs in BC and OC predisposition and support the need for BARD1 diagnostic testing in BC patients.
Journal
|
BARD1 (BRCA1 Associated RING Domain 1)
|
BARD1 mutation
over1year
Although a small cohort, our study demonstrates that non-BRCA pathogenic mutation carriers with breast cancer tend to undergo mastectomy regardless of age and extent of tumor. Larger studies are needed to confirm our findings.
BRCA Biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • PALB2 (Partner and localizer of BRCA2) • MSH6 (MutS homolog 6) • PMS2 (PMS1 protein homolog 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • CDH1 (Cadherin 1) • BARD1 (BRCA1 Associated RING Domain 1) • BRCA (Breast cancer early onset) • MUTYH (MutY homolog)
|
BRCA1 mutation • BRCA2 mutation • ER positive • HER-2 negative • ATM mutation • PTEN mutation • PALB2 mutation • BRIP1 mutation • CHEK2 mutation • ER positive + HER-2 negative • BARD1 mutation
over1year
Pathogenic HRm identifies HRD in patients with PDAC with the best outcome when treated with 1L-platinum. Biallelic HRm and core HRm further enriched benefit from 1L-platinum from HRD.
Journal • Tumor Mutational Burden • BRCA Biomarker
|
TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • BAP1 (BRCA1 Associated Protein 1) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51 (RAD51 Homolog A) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1)
|
BRCA1 mutation • BRCA2 mutation • ATM mutation • HRD • PALB2 mutation • BAP1 mutation • BRIP1 mutation • CHEK2 mutation • RAD51C mutation • FANCA mutation • BARD1 mutation • RAD50 mutation • BLM mutation • NBN mutation
over1year
Journal
|
BARD1 (BRCA1 Associated RING Domain 1)
|
BARD1 mutation
over1year
P1/2, N=427, Active, not recruiting, AstraZeneca | Recruiting --> Active, not recruiting
Clinical • Enrollment closed • Combination therapy • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA (Breast cancer early onset)
|
PD-L1 expression • HER-2 negative • CDK12 mutation • BARD1 mutation
|
Lynparza (olaparib) • Avastin (bevacizumab) • Imfinzi (durvalumab)
over1year
These results suggest that pleural effusions are important specimens for oncogene mutation analysis and enable targeted therapy for patients with lung adenocarcinoma. Research Funding: None
Tumor Mutational Burden • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
|
EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • EML4 (EMAP Like 4) • ARID1A (AT-rich interaction domain 1A) • KIF5B (Kinesin Family Member 5B) • CDK4 (Cyclin-dependent kinase 4) • CDK6 (Cyclin-dependent kinase 6) • BARD1 (BRCA1 Associated RING Domain 1)
|
PD-L1 expression • TP53 mutation • KRAS mutation • EGFR mutation • TMB-H • KRAS G12C • EGFR L858R • ARID1A mutation • ALK fusion • KIF5B-RET fusion • EGFR L858R + T790M • KRAS G12 • BARD1 mutation • EGFR T790M + KRAS mutation • HER-2 A775
over1year
Multi-gene panel testing of germline and somatic HBOC related gene mutations was feasible to characterize a comprehensive molecular profile of ovarian cancer and showed non-BRCA gene stratification potential value in predicting patient’s response for platinum-based chemotherapy. Research Funding: None
Clinical • BRCA Biomarker
|
TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • CDH1 (Cadherin 1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • BARD1 (BRCA1 Associated RING Domain 1) • BRCA (Breast cancer early onset)
|
TP53 mutation • BRCA1 mutation • ATM mutation • PTEN mutation • PALB2 mutation • BRIP1 mutation • CHEK2 mutation • RAD51C mutation • BARD1 mutation • MRE11A mutation
over1year
HRD mutations are significantly associated with a shorter OS in liver cancer patients. HRD mutation was a negative prognostic factor for overall survival in liver cancer, but the underlying mechanisms remain to be explored. Research Funding: None
BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • BARD1 (BRCA1 Associated RING Domain 1)
|
BRCA1 mutation • BRCA2 mutation • ATM mutation • HRD • PALB2 mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • BARD1 mutation • CHEK1 mutation • NBN mutation • CHEK1 expression
over1year
In this study, mutation spectrum of DDR genes was proposed in Chinese NSCLC patients. DDR gene mutations more possibly occurred in male, higher disease stage as well as in squamous NSCLC and smokers. These findings show potential relevance to disease prognosis which needs further investigation.
Clinical • BRCA Biomarker • PARP Biomarker • IO biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • ATR (Ataxia telangiectasia and Rad3-related protein) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • FANCF (FA complementation group F) • FANCM (FA Complementation Group M) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • FANCD2 (FA Complementation Group D2) • FANCG (FA Complementation Group G)
|
BRCA2 mutation • ARID1A mutation • BAP1 mutation • BARD1 mutation • FANCF mutation • RAD50 mutation • BLM mutation • FANCG mutation • FANCM mutation • NBN mutation
over1year
Only ~30% of pts underwent GT by a GC, which was associated with increased referral to a GO. LS genes are better known and were associated with higher uptake of GO referral. Education of OC risks of these newer mutations among providers performing GT may increase referral to a GO and uptake of RRS.
BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • STK11 (Serine/threonine kinase 11) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • BRCA (Breast cancer early onset) • EPCAM (Epithelial cell adhesion molecule)
|
ATM mutation • STK11 mutation • PALB2 mutation • BRIP1 mutation • RAD51D mutation • MSH2 mutation • RAD51C mutation • BARD1 mutation • PMS2 mutation • NBN mutation
over1year
These data show that HRD tests used in published and ongoing clinical trials are not equivalent, and they should not be considered interchangeable in predicting PARP inhibitor response in clinical practice. *Could not be calculated because positive results by the 11-gene panel were not continuous Research Funding: Myriad Genetic Laboratories, Inc.
BRCA Biomarker • PARP Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • MRE11A (MRE11 homolog, double strand break repair nuclease) • BARD1 (BRCA1 Associated RING Domain 1) • PARP1 (Poly(ADP-Ribose) Polymerase 1)
|
BRCA1 mutation • BRCA2 mutation • ATM mutation • HRD • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • BARD1 mutation • MRE11A mutation • NBN mutation
over1year
Analysis of remaining 201 genes revealed somatic mosaics in PPM1D and germline mutations in SHPRH and NAT1 associating with a high/moderate OC risk significantly; however, further studies are warranted to delineate their contribution to OC development in other populations. Our findings demonstrate the high proportion of patients with hereditary OC in Slavic population justifying genetic testing in all patients with OC, including BTO.
Clinical • Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • PPM1D (Protein Phosphatase Mg2+/Mn2+ Dependent 1D)
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BRCA1 mutation • BRCA2 mutation • BRIP1 mutation • RAD51D mutation • RAD51C mutation • BARD1 mutation • NBN mutation • PPM1D mutation
over1year
The BARD1 OC test can detect ovarian cancer equally well or with higher accuracy in women who are carriers of predisposing mutations in BRCA1/2 genes or part of the HBOC (hereditary breast and ovarian cancer) group. We therefore believe that the BARD1 OC test could be developed further to become a diagnostic aid for women with suspicious symptoms of ovarian cancer or a screening and monitoring tool for genetically predisposed or HBOC type women.
BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BARD1 (BRCA1 Associated RING Domain 1)
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BRCA1 mutation • BARD1 mutation
over1year
This study shows the landscape of both somatic and germline variations in unresectable Chinese PCa patients, which might be valuable to assess potential druggable markers and prognostic predictors. Source of Funding: None.
Clinical • BRCA Biomarker
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BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • RB1 (RB Transcriptional Corepressor 1) • CCND1 (Cyclin D1) • CDK12 (Cyclin dependent kinase 12) • KMT2C (Lysine Methyltransferase 2C) • ATR (Ataxia telangiectasia and Rad3-related protein) • BARD1 (BRCA1 Associated RING Domain 1)
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TP53 mutation • BRCA2 mutation • BRAF mutation • ATM mutation • CDK12 mutation • BARD1 mutation
over1year
This preclinical data demonstrates the proof-of-concept that DNA damaging agents can be used to drive PD-L1 expression in Ewing sarcoma and suggest a potential role for novel combination therapeutic regimens that include checkpoint inhibitors.
BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • BRCA1 (Breast cancer 1, early onset)
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PD-L1 expression • BRCA1 mutation • BARD1 mutation
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Talzenna (talazoparib)
over1year
The prevalence and diversity of germline genetic mutations among patients with IBC suggest that further studies should be performed to assess the role of inherited mutations in IBC carcinogenesis in comparison with non-IBC breast cancer. Since IBC has a high metastatic potential associated with poor prognostic outcomes, proposed future studies may also inform targeted treatment options.
Journal • BRCA Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • BRCA1 (Breast cancer 1, early onset) • PGR (Progesterone receptor) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2)
|
HER-2 positive • BRCA1 mutation • BRCA2 mutation • ATM mutation • PALB2 mutation • PGR positive • CHEK2 mutation • BARD1 mutation
over1year
Clinical • P2 data • Combination therapy • Tumor Mutational Burden • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ARID1A (AT-rich interaction domain 1A) • PALB2 (Partner and localizer of BRCA2) • BAP1 (BRCA1 Associated Protein 1) • MLH1 (MutL homolog 1) • CDK4 (Cyclin-dependent kinase 4) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • FANCA (FA Complementation Group A) • ATR (Ataxia telangiectasia and Rad3-related protein) • CHEK1 (Checkpoint kinase 1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • BRCA (Breast cancer early onset) • HDAC2 (Histone deacetylase 2) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)
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PD-L1 expression • ARID1A mutation • BAP1 mutation • BRIP1 mutation • FANCA mutation • BARD1 mutation • RAD50 mutation • BLM mutation • BAP1 deletion • BRCA deletion • BRCA mutation • NBN mutation
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Opdivo (nivolumab) • Talzenna (talazoparib)
over1year
Germline mutations in hereditary cancer panel genes confer subtype-specific risks of breast cancer. Combined tumor subtype, age at breast cancer diagnosis, and family history of breast and/or ovarian cancer information provides refined categorical estimates of mutation prevalence for women considering genetic testing.
Clinical • Journal • BRCA Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • PGR (Progesterone receptor) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D)
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BRCA1 mutation • BRCA2 mutation • HER-2 mutation • ATM mutation • PALB2 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • BARD1 mutation
over1year
Stage, grade, and metastatic status were not assessed in this group of patients. Larger and more detailed studies conducted in men with prostate cancer are required to confirm these findings.
Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BRCA (Breast cancer early onset)
|
BARD1 mutation
over1year
This study found a high positive rate for all individuals with multiple breast cancers, regardless of age, for both BRCA1 and BRCA2 and non-BRCA genes. Future studies should investigate whether individuals with multiple breast cancer primaries that do not meet BRCA1 and BRCA2 testing criteria should undergo genetic testing, regardless of the age of diagnosis.
Clinical • Journal • BRCA Biomarker
|
TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • PALB2 (Partner and localizer of BRCA2) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • BRCA (Breast cancer early onset)
|
ATM mutation • CHEK2 mutation • BARD1 mutation
almost2years
P4, N=178, Active, not recruiting, AstraZeneca | Trial completion date: Nov 2019 --> Jun 2021
Clinical • Trial completion date • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDK12 (Cyclin dependent kinase 12) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • MUC16 (Mucin 16, Cell Surface Associated) • CHEK1 (Checkpoint kinase 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • BRCA (Breast cancer early onset) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)
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BRCA1 mutation • BRCA2 mutation • CHEK2 mutation • RAD51B mutation • BARD1 mutation • BRCA mutation
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Lynparza (olaparib)
almost2years
Taken together these data from comparable commercial assays indicate that AA men with PCa in this large dataset have lower rates of germline DNA repair P/LP alterations as compared to CA men. These findings are driven by lower rates of P/LP alterations in the non-BRCA genes. Research Funding: None.
BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BRCA (Breast cancer early onset)
|
BARD1 mutation
almost2years
Taken together these data from comparable commercial assays indicate that AA men with PCa in this large dataset have lower rates of germline DNA repair P/LP alterations as compared to CA men. These findings are driven by lower rates of P/LP alterations in the non-BRCA genes. Research Funding: None.
BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BRCA (Breast cancer early onset)
|
BARD1 mutation
almost2years
P2, N=71, Recruiting, University Health Network, Toronto | Trial completion date: Jun 2020 --> Dec 2021 | Trial primary completion date: Dec 2019 --> Jun 2021
Clinical • Trial completion date • Trial primary completion date • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • MUC16 (Mucin 16, Cell Surface Associated) • BARD1 (BRCA1 Associated RING Domain 1) • FANCM (FA Complementation Group M) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • PPM1D (Protein Phosphatase Mg2+/Mn2+ Dependent 1D)
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BRCA1 mutation • BRCA2 mutation • PALB2 mutation • BRIP1 mutation • RAD51D mutation • RAD51C mutation • RAD51B mutation • BARD1 mutation • FANCM mutation • MUC16 expression • PPM1D mutation • RAD51 mutation
|
Lynparza (olaparib)
over2years
P=N/A, N=3000, Not yet recruiting, M.D. Anderson Cancer Center
BRCA Biomarker
|
ER (Estrogen receptor) • BRCA1 (Breast cancer 1, early onset) • PGR (Progesterone receptor) • BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
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BRCA1 mutation • BRCA2 mutation • PALB2 mutation • BRIP1 mutation • RAD51D mutation • MSH2 mutation • RAD51C mutation • BARD1 mutation • MLH1 mutation • PMS2 mutation • RAD51 mutation