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BIOMARKER:

RAD50 mutation

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Other names: RAD50, RAD50 Double Strand Break Repair Protein, RAD50 Homolog Double Strand Break Repair Protein, DNA Repair Protein RAD50, RAD50 (S. Cerevisiae) Homolog, RAD50 Homolog (S. Cerevisiae), RAD502, HRad50, HRAD50, NBSLD
Entrez ID:
Related biomarkers:
2d
Our results expand the germline mutation spectrum in malignant GGO nodules. Importantly, these findings will potentially help screen the high-risk population, guide their health management, and contribute to their clinical treatment and determination of prognosis.
Clinical • Journal
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RAD50 (RAD50 Double Strand Break Repair Protein) • NOTCH3 (Notch Receptor 3) • LMO2 • CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A)
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RAD50 mutation
15d
New P1 trial
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • CHEK2 (Checkpoint kinase 2) • CHEK1 (Checkpoint kinase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)
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BRCA1 mutation • BRCA2 mutation • ATM mutation • PALB2 mutation • CHEK2 mutation • RAD50 mutation • CHEK1 mutation • CHEK1 expression
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Cabometyx (cabozantinib tablet) • Partruvix (pamiparib)
30d
P2, N=28, Recruiting, Se-Hoon Lee | Not yet recruiting --> Recruiting
Clinical • Enrollment open • Combination therapy
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • RAD51B (RAD51 Paralog B) • SLFN11 (Schlafen Family Member 11) • RAD51 (RAD51 Homolog A) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • RAD54L (DNA Repair And Recombination Protein RAD54) • BRCA (Breast cancer early onset) • RAD52 (RAD52 Homolog DNA Repair Protein) • RECQL5 (RecQ Like Helicase 5) • WRN (WRN RecQ Like Helicase) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RECQL (RecQ Like Helicase) • RECQL4( RecQ Like Helicase 4) • RPA1 (Replication Protein A1)
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BRCA1 mutation • BRCA2 mutation • RAD51D mutation • RAD51C mutation • RAD51B mutation • MRE11A mutation • RAD50 mutation • RAD54L mutation • BLM mutation • BRCA mutation • NBN mutation • RAD52 mutation • RECQL mutation • RECQL4 mutation • RECQL5 mutation
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Lynparza (olaparib) • Avastin (bevacizumab)
2ms
Furthermore, there is not a statistically significant difference in the proportion of cases with a tumor onset under age of 40 between the two groups, but the presence of multiple non-coding variants in the same patient may affect the aggressiveness of the tumor and it is worth underlining that 25% of patients with an aggressive tumor are carriers of a PTEN 3'UTR-variant. This data provides initial information on how important it might be to extend mutational screening to the regulatory regions in clinical practice.
Journal • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • 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) • RAD50 (RAD50 Double Strand Break Repair Protein) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
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BRCA1 mutation • BRCA2 mutation • PTEN mutation • BRIP1 mutation • RAD51D mutation • CHEK2 mutation • RAD51C mutation • RAD50 mutation • NBN mutation
2ms
In this retrospective study, we showed the role of germline and somatic DDR mutation in predicting the efficacy of olaparib and platinum-based chemotherapy in Chinese patients. However, the value of DDR mutation in the prediction of hypermutation status and the sensitivity to the PD-1 blockade needed further investigation.
Clinical • Retrospective data • Journal • Tumor Mutational Burden • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • SMAD4 (SMAD family member 4) • RAD50 (RAD50 Double Strand Break Repair Protein)
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KRAS mutation • RAD50 mutation
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Lynparza (olaparib)
2ms
P2, N=20, Not yet recruiting, Massachusetts General Hospital
New P2 trial
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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
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Zejula (niraparib)
2ms
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
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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™
2ms
There are complete differences in gene mutations between MSI-H patients and MSS patients in the Chinese population, especially ARID1, TP53, PIK3CA, TGFBR2, KMT2C, RNF43, RAD50, BRCA2, ATR, CTNNB1, which are of great significance for accurate patient stratification and treatment.
Clinical • BRCA Biomarker • MSi-H Biomarker
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • KMT2C (Lysine Methyltransferase 2C) • RNF43 (Ring Finger Protein 43) • MSH3 (MutS Homolog 3) • TGFBR2 (Transforming Growth Factor Beta Receptor 2) • RAD50 (RAD50 Double Strand Break Repair Protein)
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TP53 mutation • KRAS mutation • MSI-H/dMMR • PIK3CA mutation • FBXW7 mutation • APC mutation • RNF43 mutation • RAD50 mutation
2ms
Despite having their two-decade old candidacy as breast cancer genes close to being refuted, it has recently been reported that the MRN genes rise to have potential new roles in clonal hematopoiesis. In this article, we discuss the history and current status of MRN genes' clinical utility in breast cancer and then focus on their recently uncovered and less understood roles in clonal hematopoiesis that likely predispose to health-related disorders such as hematological malignancies and/or cardiovascular morbid events.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • MRE11A (MRE11 homolog, double strand break repair nuclease) • RAD50 (RAD50 Double Strand Break Repair Protein) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
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MRE11A mutation • RAD50 mutation • NBN mutation
3ms
Clinical • New P2 trial • Combination therapy
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • RAD51B (RAD51 Paralog B) • SLFN11 (Schlafen Family Member 11) • RAD51 (RAD51 Homolog A) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • RAD54L (DNA Repair And Recombination Protein RAD54) • BRCA (Breast cancer early onset) • RAD52 (RAD52 Homolog DNA Repair Protein) • RECQL5 (RecQ Like Helicase 5) • WRN (WRN RecQ Like Helicase) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RECQL (RecQ Like Helicase) • RECQL4( RecQ Like Helicase 4) • RPA1 (Replication Protein A1)
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BRCA1 mutation • BRCA2 mutation • RAD51D mutation • RAD51C mutation • RAD51B mutation • MRE11A mutation • RAD50 mutation • RAD54L mutation • BLM mutation • BRCA mutation • NBN mutation • RAD52 mutation • RECQL mutation • RECQL4 mutation • RECQL5 mutation
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Lynparza (olaparib) • Avastin (bevacizumab)
4ms
Our results show distinct differences in genomic profile between the primary tumor and the brain metastasis. Identifying the mutation signatures of brain metastases is therefore necessary for selecting targeted therapy, and this change in clinical management may radically improve the prognosis.
BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
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EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • PTEN (Phosphatase and tensin homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • PTCH1 (Patched 1) • CDK12 (Cyclin dependent kinase 12) • FGFR (Fibroblast Growth Factor Receptor) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • FANCA (FA Complementation Group A) • NOTCH2 (Notch 2) • PIK3CB (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta) • CHEK1 (Checkpoint kinase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • NOTCH3 (Notch Receptor 3) • FANCI (FA Complementation Group I) • CDKN1B (Cyclin dependent kinase inhibitor 1B)
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PTCH1 mutation • RAD50 mutation • FANCI mutation
4ms
Our results suggest that genetic testing with a comprehensive gene panel should be perfomed in all patients with PC, in order to allow screening for PC and other gene-related cancers in all at risk family members and to assess patients' eligibility for emerging therapeutic options.
Journal • BRCA Biomarker
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • ATM (ATM serine/threonine kinase) • PALB2 (Partner and localizer of BRCA2) • RAD50 (RAD50 Double Strand Break Repair Protein) • BRCA (Breast cancer early onset)
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PALB2 mutation • RAD50 mutation
4ms
Low expression of RAD52 correlated with decreased DFS in the Mannheim and the TCGA cohort. This effect was especially pronounced in the subset of patients who received ACBC, making it a promising indicator for response to ACBC on the level of gene expression.
Clinical • Journal • BRCA Biomarker • IO biomarker
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • BCL2 (B-cell CLL/lymphoma 2) • ERCC2 (Excision repair cross-complementation group 2) • RAD51 (RAD51 Homolog A) • RAD50 (RAD50 Double Strand Break Repair Protein) • RAD52 (RAD52 Homolog DNA Repair Protein) • ERCC6 (Excision repair cross-complementation group 6) • FOXM1 (Forkhead Box M1)
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BCL2 expression • RAD50 mutation
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cisplatin
4ms
Here we demonstrate successful protocol implementation enabling a high volume PDAC academic center to implement a genetic testing program without placing strain on genetic counseling resources. As we expand our program, we aim to identify affected family members at the greatest risk for PDAC in order to detect cancer in the earliest disease stages.
Clinical • BRCA Biomarker
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • EPCAM (Epithelial cell adhesion molecule) • MUTYH (MutY homolog) • HOXB13 (Homeobox B13) • Cancer antigen 19-9
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BRCA1 mutation • BRCA2 mutation • ATM mutation • PALB2 mutation • RAD50 mutation • PMS2 mutation
5ms
P2, N=41, Recruiting, California Pacific Medical Center Research Institute | Not yet recruiting --> Recruiting
Clinical • Enrollment open • Combination therapy
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BRAF (B-raf proto-oncogene) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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) • RAD50 (RAD50 Double Strand Break Repair Protein) • ARID2 (AT-Rich Interaction Domain 2) • BARD1 (BRCA1 Associated RING Domain 1) • BRCA (Breast cancer early onset)
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BRCA1 mutation • BRCA2 mutation • BRAF mutation • BRAF V600 • ATM mutation • ARID1A mutation • BAP1 mutation • BRIP1 mutation • CHEK2 mutation • FANCA mutation • BARD1 mutation • RAD50 mutation
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Keytruda (pembrolizumab) • Lynparza (olaparib)
5ms
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
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TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • RB1 (RB Transcriptional Corepressor 1) • 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))
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PD-L1 expression • KRAS mutation • TMB-H • ATM mutation • HRD • PALB2 mutation • KMT2D mutation • BARD1 mutation • RAD50 mutation • BLM mutation • NBN mutation • CHEK1 expression
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VENTANA PD-L1 (SP142) Assay
5ms
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
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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)
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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
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Lynparza (olaparib) • cisplatin
5ms
Genomic characteristics of GCA with amplified MET are associated with adverse response to immunotherapy and thus it should be carefully evaluated when these patients are treated with immunotherapy.
Tumor Mutational Burden • BRCA Biomarker • IO biomarker
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MET (MET proto-oncogene, receptor tyrosine kinase) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • DNMT3A (DNA methyltransferase 1) • MSI (Microsatellite instability) • JAK2 (Janus kinase 2) • CCND1 (Cyclin D1) • PALB2 (Partner and localizer of BRCA2) • PBRM1 (Polybromo 1) • FGF19 (Fibroblast growth factor 19) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • ERCC2 (Excision repair cross-complementation group 2) • MSH2 (MutS Homolog 2) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • FGF3 (Fibroblast growth factor 3) • JAK1 (Janus Kinase 1) • PMS2 (PMS1 protein homolog 2) • B2M (Beta-2-microglobulin) • MDM4 (The mouse double minute 4) • POLD1 (DNA Polymerase Delta 1) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • FGF4 (Fibroblast growth factor 4) • RNF43 (Ring Finger Protein 43) • CDK6 (Cyclin-dependent kinase 6) • RAD50 (RAD50 Double Strand Break Repair Protein) • AXIN1 (Axin 1)
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KRAS mutation • BRCA1 mutation • EGFR mutation • MET amplification • PTEN mutation • ATM mutation • STK11 mutation • DNMT3A mutation • PALB2 mutation • TMB-L • CCND1 amplification • PBRM1 mutation • CTNNB1 mutation • CHEK2 mutation • FANCA mutation • RNF43 mutation • RAD50 mutation • PMS2 mutation
5ms
ATMmPCa demonstrated several differences in co-occurring alterations compared to BRCA2mPCa, HRD and HRP mPCa . ATMmPCa tumors were less likely to harbor alterations in TP53 compared to BRCA2, HRD or HRP tumors . CNA in ATMmPCa occurred in 9 genes across distinct mPCa molecular subtypes and were enriched for those associated with the 11q13 amplicon harboring Cyclin D1 .
Tumor Mutational Burden • BRCA Biomarker • MSi-H Biomarker • PARP Biomarker • IO biomarker
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TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • MSI (Microsatellite instability) • HRD (Homologous Recombination Deficiency) • CCND1 (Cyclin D1) • FGF19 (Fibroblast growth factor 19) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • FGF4 (Fibroblast growth factor 4) • RAD51 (RAD51 Homolog A) • RAD51D (RAD51 paralog D) • RAD50 (RAD50 Double Strand Break Repair Protein) • BCL7A (BAF Chromatin Remodeling Complex Subunit BCL7A) • FLCN (Folliculin) • ALDH2 (Aldehyde Dehydrogenase 2 Family Member) • DAXX (Death-domain associated protein) • PARP2 (Poly(ADP-Ribose) Polymerase 2) • SMAD2 (SMAD Family Member 2)
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TP53 mutation • BRCA2 mutation • MSI-H/dMMR • ATM mutation • RAD50 mutation
5ms
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
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TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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))
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TP53 mutation • PTEN mutation • ATM 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
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carboplatin • gemcitabine • Abraxane (albumin-bound paclitaxel)
5ms
P2, N=30, Recruiting, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins | Trial completion date: Nov 2021 --> Nov 2022 | Trial primary completion date: May 2021 --> May 2022
Clinical • Trial completion date • Trial primary completion date
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • ATM (ATM serine/threonine kinase) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • RAD50 (RAD50 Double Strand Break Repair Protein) • FANCF (FA complementation group F) • FANCL (FA Complementation Group L) • FANCI (FA Complementation Group I) • FANCM (FA Complementation Group M) • FANCG (FA Complementation Group G) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • FANCC (FA Complementation Group C)
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RAD51D mutation • CHEK2 mutation • RAD51C mutation • FANCA mutation • FANCF mutation • RAD50 mutation • FANCG mutation • FANCI mutation • FANCM mutation • NBN mutation
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Rubraca (rucaparib)
5ms
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
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TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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)
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TP53 mutation • BRCA1 mutation • BRCA2 mutation • PIK3CA mutation • MSH2 mutation • BARD1 mutation • RAD50 mutation • PMS2 mutation
6ms
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
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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))
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TP53 mutation • BRCA1 mutation • BRCA2 mutation • PTEN mutation • ATM mutation • PALB2 mutation • CHEK2 mutation • MSH2 mutation • BRCA1 mutation + BRCA2 mutation • BARD1 mutation • RAD50 mutation • BRCA mutation • NBN mutation
6ms
We found that nearly 12% patients in this Chinese PDAC cohort carry deleterious germline mutations, mainly in established pancreatic cancer susceptibility genes and DDR genes. Our data indicated that the PDAC germline mutation landscape of Chinese population is largely similar to that of the Caucasian population and the NCCN PDAC genetic screen guideline can be applied to the clinical management of PDAC patients of Asian descent.
Clinical • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • MSH6 (MutS homolog 6) • ERCC2 (Excision repair cross-complementation group 2) • PMS2 (PMS1 protein homolog 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51D (RAD51 paralog D) • MSH3 (MutS Homolog 3) • MRE11A (MRE11 homolog, double strand break repair nuclease) • RAD50 (RAD50 Double Strand Break Repair Protein) • MUTYH (MutY homolog) • ERCC5 (ERCC Excision Repair 5 Endonuclease 2) • FANCM (FA Complementation Group M) • WRN (WRN RecQ Like Helicase) • FANCD2 (FA Complementation Group D2) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RECQL4( RecQ Like Helicase 4) • FANCC (FA Complementation Group C)
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TP53 mutation • BRCA1 mutation • ATM mutation • PALB2 mutation • CDKN2A mutation • RAD51D mutation • RAD50 mutation • BLM mutation • NBN mutation • RECQL4 mutation
6ms
This is the largest study to clarify the landscape of DDR gene mutations in hepatocellular carcinoma. This study confirms that mutations in DDR genes are relatively common and are correlated with higher tumor mutation burden. This also indicates not all DDR genes are equal since mutations of certain individual genes were associated with higher TMB whereas others were not; further studies are needed to confirm this.
Clinical • Tumor Mutational Burden • BRCA Biomarker • PARP Biomarker • IO biomarker
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TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • ATM (ATM serine/threonine kinase) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • ERCC1 (Excision repair cross-complementation group 1) • PMS2 (PMS1 protein homolog 2) • POLD1 (DNA Polymerase Delta 1) • 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) • 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) • FANCL (FA Complementation Group L) • MUTYH (MutY homolog) • FANCD2 (FA Complementation Group D2) • FANCG (FA Complementation Group G) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) • FANCC (FA Complementation Group C)
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TMB-H • FANCA mutation • FANCF mutation • RAD50 mutation • BLM mutation • FANCG mutation • PRKDC mutation • RAD51 mutation • CHEK1 expression
6ms
Our results suggest that a singular event of genomic integration of circulating cfCh is capable of concurrently activating all known hallmarks of cancer, suggesting that circulating cfCh is the elusive cardinal trigger for cancer initiation and metastasis.
PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • BCL2 (B-cell CLL/lymphoma 2) • CCND1 (Cyclin D1) • IL6 (Interleukin 6) • IFNG (Interferon, gamma) • TNFA (Tumor Necrosis Factor-Alpha) • TGFB1 (Transforming Growth Factor Beta 1) • CDH2 (Cadherin 2) • CDKN1A (Cyclin-dependent kinase inhibitor 1A)
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PD-L1 expression • RAD50 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
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PD-L1 (Programmed death ligand 1) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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)
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PD-L1 expression • MSI-H/dMMR • FANCA mutation • BARD1 mutation • RAD50 mutation
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PD-L1 IHC 22C3 pharmDx
7ms
The DDR pathway genes alteration characteristics was presented in Chinese HNC patients, and was associated with a higher TMB level. These findings provide a theoretical basis for future investigation of clinical therapy in DDR mutated Chinese HNC patients.
Clinical • Tumor Mutational Burden • PD(L)-1 Biomarker • PARP Biomarker • MSi-H Biomarker • BRCA Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • NOTCH1 (Notch 1) • MSI (Microsatellite instability) • JAK2 (Janus kinase 2) • RB1 (RB Transcriptional Corepressor 1) • LRP1B (LDL Receptor Related Protein 1B) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • KMT2C (Lysine Methyltransferase 2C) • PD-L2 (Programmed Cell Death 1 Ligand 2) • PMS2 (PMS1 protein homolog 2) • FANCA (FA Complementation Group A) • RAD51 (RAD51 Homolog A) • RAD50 (RAD50 Double Strand Break Repair Protein)
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PD-L1 expression • TMB-H • MSI-H/dMMR • FANCA mutation • JAK2 mutation • RAD50 mutation • PMS2 mutation
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PD-L1 IHC 22C3 pharmDx
7ms
Korean patients with prostate cancer showed a relatively low germline mutation rate compared to other ethnicities. The ctDNA mutations detected by liquid biopsy can predict the development of castration resistance in patients with mHSPC.
Clinical • Journal • Liquid biopsy • BRCA Biomarker
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TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • RAD50 (RAD50 Double Strand Break Repair Protein)
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TP53 mutation • BRCA1 mutation • RAD50 mutation
7ms
P2, N=15, Completed, Samsung Medical Center | Recruiting --> Completed | N=28 --> 15 | Trial completion date: Sep 2021 --> Jan 2021 | Trial primary completion date: Sep 2021 --> Jan 2021
Clinical • Trial completion • Enrollment change • Trial completion date • Trial primary completion date
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • ATM (ATM serine/threonine kinase) • RAD51B (RAD51 Paralog B) • RAD51 (RAD51 Homolog A) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • RAD54L (DNA Repair And Recombination Protein RAD54) • RAD52 (RAD52 Homolog DNA Repair Protein) • RECQL5 (RecQ Like Helicase 5) • WRN (WRN RecQ Like Helicase) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RECQL (RecQ Like Helicase) • RECQL4( RecQ Like Helicase 4) • RPA1 (Replication Protein A1)
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BRCA1 mutation • BRCA2 mutation • RAD51D mutation • RAD51C mutation • RAD51B mutation • MRE11A mutation • RAD50 mutation • RAD54L mutation • BLM mutation • WRN mutation • NBN mutation • RAD52 mutation • RECQL mutation • RECQL4 mutation • RECQL5 mutation • RPA1 mutation
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Lynparza (olaparib)
8ms
Clinical • P2 data • Journal • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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)
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BRCA1 mutation • ATM mutation • PALB2 mutation • CHEK2 mutation • FANCA mutation • BARD1 mutation • FANCF mutation • RAD50 mutation • BLM mutation
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Lynparza (olaparib) • Imfinzi (durvalumab) • tremelimumab (CP-675206)
9ms
DNA damage repair genes were mutated in 40.3% of patients with high-grade serous carcinoma, with somatic BRCA mutations in the absence of germline mutation in 8.5%. Somatic variant examination, along with germline testing of DNA damage repair genes, has potential to detect additional candidates for PARP inhibitor treatment.
Clinical • Journal • BRCA Biomarker • PARP Biomarker
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TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • HRD (Homologous Recombination Deficiency) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • FANCA (FA Complementation Group A) • RAD50 (RAD50 Double Strand Break Repair Protein) • BRCA (Breast cancer early onset)
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TP53 mutation • BRCA1 mutation • FANCA mutation • RAD50 mutation • BRCA mutation
9ms
HRR gene mutations significantly increased immune activities in MSS COAD patients, implying the feasibility of the HRR-mut status as an immunotherapy response predictor in MSS COAD.
Journal • MSi-H Biomarker • BRCA Biomarker • IO biomarker
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BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • MSI (Microsatellite instability) • HRD (Homologous Recombination Deficiency) • CD8 (cluster of differentiation 8) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD50 (RAD50 Double Strand Break Repair Protein)
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MSI-H/dMMR • BRIP1 mutation • RAD50 mutation
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MSK-IMPACT
10ms
The frequency of determining pathogenic mutations in the genes in question was determined. The early detection of prostate cancer were organization for patient with with pathogenic mutations.
BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • ATM (ATM serine/threonine kinase) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • POLE (DNA Polymerase Epsilon) • PALB2 (Partner and localizer of BRCA2) • BAP1 (BRCA1 Associated Protein 1) • CDK12 (Cyclin dependent kinase 12) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • POLD1 (DNA Polymerase Delta 1) • CHEK2 (Checkpoint kinase 2) • RAD51D (RAD51 paralog D) • CDH1 (Cadherin 1) • ATR (Ataxia telangiectasia and Rad3-related protein) • RAD50 (RAD50 Double Strand Break Repair Protein) • BRCA (Breast cancer early onset) • EPCAM (Epithelial cell adhesion molecule) • FANCI (FA Complementation Group I) • PPM1D (Protein Phosphatase Mg2+/Mn2+ Dependent 1D)
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BRCA1 mutation • BRCA2 mutation • ATM mutation • PALB2 mutation • CHEK2 mutation • MSH2 mutation • RAD50 mutation • BRCA mutation • FANCI mutation
10ms
We recommend the prioritization of BRCA1-c.211dupA screening in high risk breast cancer families originating from the North-East of Tunisia. We also highlighted the importance of NGS in detecting novel mutations, such as RAD50-c.3647C > G. In addition, we strongly recommend using data from different ethnic groups to review the pathogenicity of this variant and reconsider its classification in ClinVar.
Clinical • Journal • BRCA Biomarker • PARP Biomarker
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • RAD50 (RAD50 Double Strand Break Repair Protein) • BRCA (Breast cancer early onset) • MITF (Melanocyte Inducing Transcription Factor)
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BRCA1 mutation • BRCA2 mutation • BRCA1 mutation + BRCA2 mutation • RAD50 mutation
10ms
Clinical • Enrollment change • PARP Biomarker • PD(L)-1 Biomarker
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • BAP1 (BRCA1 Associated Protein 1) • CDK12 (Cyclin dependent kinase 12) • ERCC2 (Excision repair cross-complementation group 2) • POLD1 (DNA Polymerase Delta 1) • CHEK2 (Checkpoint kinase 2) • 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) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) • FANCC (FA Complementation Group C)
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MSI-H/dMMR • RAD50 mutation
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Opdivo (nivolumab) • veliparib (ABT-888)
10ms
Also, we detected either LOH or bi-allelic inactivation for most HR-associated mutations used to determine eligibility. These findings may inform selection of patients for PARP inhibitor monotherapy beyond BRCA1/2.
Clinical • BRCA Biomarker • PARP Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • RB1 (RB Transcriptional Corepressor 1) • PALB2 (Partner and localizer of BRCA2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD50 (RAD50 Double Strand Break Repair Protein) • BRCA (Breast cancer early onset)
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TP53 mutation • KRAS mutation • BRCA1 mutation • BRCA2 mutation • PIK3CA mutation • HER-2 negative • PTEN mutation • ATM mutation • PALB2 mutation • NF1 mutation • RB1 mutation • BRIP1 mutation • CHEK2 mutation • FANCA mutation • RAD50 mutation • BRCA mutation
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Talzenna (talazoparib)
10ms
Clinical • New P2 trial • Combination therapy • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker
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BRAF (B-raf proto-oncogene) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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) • RAD50 (RAD50 Double Strand Break Repair Protein) • ARID2 (AT-Rich Interaction Domain 2) • BARD1 (BRCA1 Associated RING Domain 1) • BRCA (Breast cancer early onset)
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BRCA1 mutation • BRCA2 mutation • BRAF mutation • BRAF V600 • ATM mutation • ARID1A mutation • BAP1 mutation • BRIP1 mutation • CHEK2 mutation • FANCA mutation • BARD1 mutation • RAD50 mutation
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Keytruda (pembrolizumab) • Lynparza (olaparib)
10ms
Approximately one in 10 EO mCRC was associated with hereditary tumors. The spectrum of somatic alterations was largely comparable between EO and AO mCRC with several notable differences.
Journal • Tumor Mutational Burden • BRCA Biomarker
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BRAF (B-raf proto-oncogene) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MET (MET proto-oncogene, receptor tyrosine kinase) • BRCA2 (Breast cancer 2, early onset) • ASXL1 (ASXL Transcriptional Regulator 1) • SMAD4 (SMAD family member 4) • RNF43 (Ring Finger Protein 43) • RAD50 (RAD50 Double Strand Break Repair Protein) • DNMT3B (DNA Methyltransferase 3 Beta)
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TP53 mutation • BRAF V600E • KRAS mutation • TMB-H • BRAF V600 • RNF43 mutation • RAD50 mutation
11ms
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
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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)
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RAD51B mutation • BARD1 mutation • MRE11A mutation • RAD50 mutation • MLH3 mutation • FANCM mutation • RAD51 mutation
12ms
The status of RAD50 promoter's methylation inversely correlates with the expression level of RAD50. While RAD50 is overexpressed in breast cancer patients and thus makes tumor resistant against many anti-cancer drugs.
Clinical • Journal
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RAD50 (RAD50 Double Strand Break Repair Protein)
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RAD50 mutation
12ms
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
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TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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)
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BRCA1 mutation • BRCA2 mutation • ATM mutation • CHEK2 mutation • BARD1 mutation • RAD50 mutation • PMS2 mutation • FANCM mutation
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PredicineATLAS™
12ms
Among the mutations detected in our study, TP53 (p.R81X), VHL (p.E52X), and BRCA2 (p.K3326X) mutations, which lead to an aberrant transcript with a premature stop codon, were reported for the first time in breast cancer patients from Saudi Arabia. Our study will help in identifying the damaging mutations and predisposing genes in Saudi breast cancer patients.
Clinical • Journal • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • RAD50 (RAD50 Double Strand Break Repair Protein) • BRCA (Breast cancer early onset)
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TP53 mutation • BRCA1 mutation • BRCA2 deletion • BRCA1 deletion • RAD50 mutation • BRCA deletion • BRCA mutation
1year
According to published data, mutations in the RAD51D gene are associated with a high risk of developing familial forms of ovarian and breast cancer that are not caused by germline mutations in the BRCA1 and BRCA2 genes. Further research is warranted to confirm the impact of mentioned above variants on the risk of BC in ethnically diverse patients of Russia. The reported study was funded by RFBR according to the research project 18-29-09046.
Clinical • BRCA Biomarker
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TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • STK11 (Serine/threonine kinase 11) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • 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) • EPCAM (Epithelial cell adhesion molecule) • MUTYH (MutY homolog)
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BRCA1 mutation • PTEN mutation • RAD51D mutation • RAD50 mutation • RAD51 mutation
1year
According to published data, mutations in the RAD51D gene are associated with a high risk of developing familial forms of ovarian and breast cancer that are not caused by germline mutations in the BRCA1 and BRCA2 genes. Further research is warranted to confirm the impact of mentioned above variants on the risk of BC in ethnically diverse patients of Russia. The reported study was funded by RFBR according to the research project 18-29-09046.
Clinical • BRCA Biomarker
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TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • STK11 (Serine/threonine kinase 11) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • 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) • EPCAM (Epithelial cell adhesion molecule) • MUTYH (MutY homolog)
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BRCA1 mutation • PTEN mutation • RAD51D mutation • RAD50 mutation • RAD51 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
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HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • ATM (ATM serine/threonine kinase) • MSI (Microsatellite instability) • 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)
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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
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HER-2 (Human epidermal growth factor receptor 2) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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)
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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
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Herceptin (trastuzumab) • Zejula (niraparib) • pucotenlimab (HX008)
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
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TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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)
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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
Our study revealed that HR-DDR mutations occurred in 38.1% of Chinese breast cancer patients, and BRCA2 was the most commonly mutated gene. HR-DDR mutations were associated with a higher TMB value, indicating a potential strategy for immunotherapy in Chinese breast cancer patients. The role of HRD-directed therapies, including poly-ADP ribose polymerase inhibitors and newer agents such as ATR inhibitors, needs to be explored.
Tumor Mutational Burden • BRCA Biomarker • PARP Biomarker • IO biomarker
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HER-2 (Human epidermal growth factor receptor 2) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • ARID1A (AT-rich interaction domain 1A) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • BAP1 (BRCA1 Associated Protein 1) • ATRX (ATRX Chromatin Remodeler) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • FANCA (FA Complementation Group A) • RAD51 (RAD51 Homolog A) • AURKA (Aurora kinase 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) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • WRN (WRN RecQ Like Helicase)
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BRCA1 mutation • BRCA2 mutation • ARID1A mutation • FANCA mutation • MRE11A mutation • RAD50 mutation • RAD54L mutation • CHEK1 mutation • CHEK1 expression
over1year
"Background In the TRIBE2 study, molecularly unselected and untreated mCRC patients were randomized to receive FOLFOXIRI/bevacizumab (bev) followed by the same agents after disease progression (PD) or FOLFOX/bev followed by FOLFIRI/bev after PD...Legal entity responsible for the study The author. Funding GONO Foundation."
HER-2 (Human epidermal growth factor receptor 2) • BRAF (B-raf proto-oncogene) • KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • PALB2 (Partner and localizer of BRCA2) • MSH6 (MutS homolog 6) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog 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) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting) • NTRK (Neurotrophic receptor tyrosine kinase)
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BRAF V600E • KRAS mutation • MSI-H/dMMR • HER-2 amplification • BRAF V600 • KRAS G12C • MET amplification • HER-2 mutation • POLE mutation • KRAS G12 • MSH6 mutation • RAD50 mutation • BRAF mutation + MET amplification • POLE P286R • MSH6 F1040fs • MSH6 expression • POLE S459F
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MI Tumor Seek™
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Avastin (bevacizumab)
over1year
In this multi-center retrospective study, we deciphered the intra-tumoral genetic heterogeneity in Chinese PDAC population, which differs from western patients cohort to some extent. We found the potential role of germline and somatic DDR mutation status in predicting the response to olaparib and platinum-based chemotherapy, especially with BRCA or ATM mutation. However, DDR alteration was limited in prediction of hypermutational status and sensitivity to PD-1 blockade.
Clinical • Tumor Mutational Burden • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • MLH1 (MutL homolog 1) • SMAD4 (SMAD family member 4) • RAD50 (RAD50 Double Strand Break Repair Protein) • BRCA (Breast cancer early onset)
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PD-L1 expression • KRAS mutation • ATM mutation • RAD50 mutation • BRCA mutation
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Lynparza (olaparib)
over1year
Our study retrospectively analyzed germline mutation profile of prostate cancer in Chinese population. The frequency of HSD3B1 (1245C) allele varies across ethnic populations in spite of the similar DNA repair gene mutations rates. Considering the gene list should be tested based on clinical/familial scenarios from the Philadelphia Prostate Cancer Consensus Conference, a prevalence of certain mutations, G84E mutation in HOXB13 was unnecessary for genetic testing in Chinese population.
BRCA Biomarker
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • ATR (Ataxia telangiectasia and Rad3-related protein) • RAD50 (RAD50 Double Strand Break Repair Protein) • MUTYH (MutY homolog) • PMS1 (PMS1 protein homolog 1) • FANCD2 (FA Complementation Group D2) • HOXB13 (Homeobox B13)
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BRCA2 mutation • PALB2 mutation • RAD50 mutation • MLH3 mutation
over1year
These findings indicated that CDH1, MSH2, and RAD50 mutations may be associated with TMB-H, immuno-upregulation in TME and better survival outcomes. Combined with TMB, genes mentioned above may give us some insights into how ICB therapeutic strategies assist natural host immune responses against HNSC in Chinese population. Research Funding: None
Clinical • Tumor Mutational Burden • IO biomarker
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TMB (Tumor Mutational Burden) • PTCH1 (Patched 1) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • CDK4 (Cyclin-dependent kinase 4) • TSC2 (TSC complex subunit 2) • TSC1 (TSC complex subunit 1) • CDH1 (Cadherin 1) • MSH3 (MutS Homolog 3) • RAD50 (RAD50 Double Strand Break Repair Protein)
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TMB-H • TMB-L • MSH2 mutation • RAD50 mutation
over1year
4.5% of patients carrying germline variants may be linked to increased susceptibility to lung cancer. The susceptibility is mainly reflected in family history and morbidity risk without significant influence on aberrant pathways. Research Funding: the Special Funds for Strategic Emerging Industry Development of Shenzhen (grant number 20170922151538732), the Science and Technology Project of Shenzhen (grant number JSGG20180703164202084)
BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • PALB2 (Partner and localizer of BRCA2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD50 (RAD50 Double Strand Break Repair Protein) • EPCAM (Epithelial cell adhesion molecule)
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TP53 mutation • BRCA2 mutation • PALB2 mutation • BRIP1 mutation • CHEK2 mutation • RAD50 mutation • BLM mutation • MLH3 mutation
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
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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)
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BRCA2 mutation • ARID1A mutation • BAP1 mutation • BARD1 mutation • FANCF mutation • RAD50 mutation • BLM mutation • FANCG mutation • FANCM mutation • NBN mutation
over1year
In this study, there is no significant correlation of germline susceptibility gene mutations with clinical and genetic characters of NSCLC patients. Further investigation on germline genetic aberrations of NSCLC is definitely needed to clarify germline impact on the etiology of NSCLC. Research Funding: None
Clinical • BRCA Biomarker
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • CDH1 (Cadherin 1) • ATR (Ataxia telangiectasia and Rad3-related protein) • MRE11A (MRE11 homolog, double strand break repair nuclease) • RAD50 (RAD50 Double Strand Break Repair Protein) • MUTYH (MutY homolog) • PMS1 (PMS1 protein homolog 1)
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KRAS mutation • BRCA2 mutation • PALB2 mutation • BRIP1 mutation • RAD51C mutation • MRE11A mutation • RAD50 mutation • BLM mutation • PMS1 mutation
over1year
Furthermore, we evaluated three DNA double-strand break-repair genes (MRE11, RAD50, and DNA-PKcs) as possible targets of MSI by fragment-length polymorphism analysis, revealing the mutation frequency of RAD50 as significantly higher in chromate LC than nonchromate LC (P = .047). These results suggest that chromate exposure might induce MLH1 hypermethylation in LC as a mechanism of chromate-induced carcinogenesis.
Journal
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MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • RAD50 (RAD50 Double Strand Break Repair Protein)
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RAD50 mutation
over1year
As expected, a positive family history is a strong predictor of germline BRCA2 mutations in male BC. Understanding the potential pathogenicity of VUS represents an extremely urgent need for the management of BC risk in Male BC cases and their own families.
Journal • BRCA Biomarker
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • PALB2 (Partner and localizer of BRCA2) • ERCC1 (Excision repair cross-complementation group 1) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • MUTYH (MutY homolog)
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BRCA2 mutation • PALB2 mutation • BRIP1 mutation • RAD50 mutation • NBN mutation
over1year
Panel testing of BC patients who met the established criteria for hereditary BC but who were negative for BRCA1/2 mutations provided additional relevant clinical information for approximately 11.5% of the families. Our findings indicate that next generation sequencing (NGS) is a powerful tool to investigative putative mutagenic variants among patients who meet the criteria for hereditary BC, but with negative results on BRCA1/2 testing.
Journal • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • PTEN (Phosphatase and tensin homolog) • CHEK2 (Checkpoint kinase 2)
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BRCA1 mutation • BRCA2 mutation • PTEN mutation • CHEK2 mutation • RAD50 mutation
over1year
The potential therapeutic value of fluzoparib for increasing the radiation sensitivity of NSCLC is well confirmed. Moreover, our findings of high mutation frequencies among HR genes suggest that PARP1 inhibition may be an effective treatment strategy for advanced non-small cell lung cancer patients.
Clinical • Journal • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset) • CHEK2 (Checkpoint kinase 2) • ATR (Ataxia telangiectasia and Rad3-related protein)
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BRCA1 mutation • BRCA2 mutation • CHEK2 mutation • RAD50 mutation • PARP1 overexpression
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AiRuiYi (fluzoparib)
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) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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
P2, N=30, Recruiting, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins | Trial primary completion date: May 2020 --> May 2021
Clinical • Trial primary completion date • PARP Biomarker
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • ATM (ATM serine/threonine kinase) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • RAD50 (RAD50 Double Strand Break Repair Protein) • FANCF (FA complementation group F) • FANCL (FA Complementation Group L) • FANCI (FA Complementation Group I) • FANCM (FA Complementation Group M) • FANCG (FA Complementation Group G) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • FANCC (FA Complementation Group C)
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RAD51D mutation • CHEK2 mutation • RAD51C mutation • FANCA mutation • FANCF mutation • RAD50 mutation • FANCG mutation • FANCI mutation • FANCM mutation • NBN mutation
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Rubraca (rucaparib)