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BIOMARKER:

RAD54L mutation

i
Other names: DNA Repair And Recombination Protein RAD54, RAD54 Homolog, RAD54A, HRAD54, HHR54, RAD54 Like (S. Cerevisiae), RAD54 (S.Cerevisiae)-Like
Entrez ID:
Related biomarkers:
5d
P2, N=30, Not yet recruiting, West Cancer Center
New P2 trial
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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) • CHEK1 (Checkpoint kinase 1) • RAD51D (RAD51 paralog D) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • FANCI (FA Complementation Group I) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)
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BRCA1 mutation • ATM mutation • HRD • PALB2 mutation • BRIP1 mutation • CHEK2 mutation • RAD51C mutation • RAD51D mutation • HRD + BRCA1 mutation • RAD51B mutation • RAD54L mutation • BARD1 mutation • FANCI mutation • RAD51 mutation
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Zejula (niraparib) • Jemperli (dostarlimab)
17d
Mutations in RAD54L (P=0.018) and MYC (P=0.04) were more common in FP patients; HPD patients showed more frequent RAD54L mutations (P<0.001). We demonstrated different genomic characteristics across different progression patterns following ICI treatment, which might assist clinicians in the prediction of a patient's response, identifying candidates for more effective ICI therapy.
Clinical • Journal • Checkpoint inhibition • Tumor Mutational Burden • IO biomarker
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EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • TMB (Tumor Mutational Burden) • MET (MET proto-oncogene, receptor tyrosine kinase) • RET (Ret Proto-Oncogene) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • CDKN1B (Cyclin dependent kinase inhibitor 1B)
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KRAS mutation • EGFR mutation • HER-2 amplification • MET amplification • HER-2 mutation • RET fusion • EGFR amplification • ALK fusion • ALK mutation • MET mutation • ATRX mutation • ALK amplification • RAD54L mutation • NTRK1 mutation
1m
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 • RAD51C mutation • RAD51D mutation • MRE11A mutation • RAD50 mutation • RAD51B mutation • RAD54L mutation • BLM mutation • BRCA mutation • NBN mutation • RAD52 mutation • RECQL mutation • RECQL4 mutation • RECQL5 mutation
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Avastin (bevacizumab) • Lynparza (olaparib)
2ms
Our data provide insight into the development of NE GBC and suggest a common origin of precancerous epithelial lesions and invasive neuroendocrine components, favoring the hypothesis of lineage transformation. Moreover, nearly half of the NE GBCs carried at least one potentially actionable molecular alteration, highlighting the importance of molecular testing in this highly lethal cancer.
Clinical • Journal • Tumor Mutational Burden • BRCA Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • FGFR3 (Fibroblast growth factor receptor 3) • MSI (Microsatellite instability) • TACC3 (Transforming acidic coiled-coil containing protein 3) • MDM2 (E3 ubiquitin protein ligase) • RAD54L (DNA Repair And Recombination Protein RAD54)
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TP53 mutation • HER-2 amplification • ATM mutation • ATRX mutation • FGFR3 fusion • RAD54L mutation
3ms
CtDNA can characterize the mutational feature of HRR in OC . Around 42.3% of patients with OC harbour germline or somatic HRR mutations . The expanded use of PARP inhibitors in HRR deficient tumours using a signature of HRR by ctDNA in clinical practice requires validation.
Clinical • BRCA Biomarker • PARP Biomarker
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • CHEK1 (Checkpoint kinase 1) • RAD51D (RAD51 paralog D) • RAD54L (DNA Repair And Recombination Protein RAD54)
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BRCA1 mutation • ATM mutation • PALB2 mutation • BRIP1 mutation • CHEK2 mutation • FANCA mutation • RAD51C mutation • RAD51D mutation • RAD51B mutation • RAD54L mutation • CHEK1 mutation • RAD51 mutation • CHEK1 expression
3ms
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
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • CHEK1 (Checkpoint kinase 1) • RAD51D (RAD51 paralog D) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1)
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BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • CHEK2 mutation • FANCA mutation • RAD51C mutation • RAD51D mutation • RAD51B mutation • RAD54L mutation • BARD1 mutation • CHEK1 mutation • RAD51 mutation • CHEK1 expression
3ms
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
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BRAF (B-raf proto-oncogene) • BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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) • CHEK1 (Checkpoint kinase 1) • RAD51D (RAD51 paralog D) • RAD54L (DNA Repair And Recombination Protein RAD54) • BRCA (Breast cancer early onset) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L)
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BRAF V600E • BRCA1 mutation • BRCA2 mutation • MSI-H/dMMR • BRAF V600 • PALB2 mutation • CDK12 mutation • BRIP1 mutation • CHEK2 mutation • RAD51C mutation • RAD51D mutation • RAD51B mutation • RAD54L mutation • BARD1 mutation • BRCA mutation • CHEK1 expression
4ms
New P1/2 trial
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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) • CHEK1 (Checkpoint kinase 1) • RAD51D (RAD51 paralog D) • RAD54L (DNA Repair And Recombination Protein RAD54) • BRCA (Breast cancer early onset) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L)
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BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • CHEK2 mutation • RAD51C mutation • RAD51D mutation • RAD51B mutation • RAD54L mutation • BARD1 mutation • CHEK1 mutation • CHEK1 expression
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FoundationOne® CDx
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Trodelvy (sacituzumab govitecan-hziy) • berzosertib (M6620)
5ms
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
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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) • CHEK1 (Checkpoint kinase 1) • RAD51D (RAD51 paralog D) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L)
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BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • CHEK2 mutation • RAD51C mutation • RAD51D mutation • RAD51B mutation • RAD54L mutation • BARD1 mutation • CHEK1 mutation • RAD51 mutation • CHEK1 expression
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Lynparza (olaparib)
5ms
Our findings highlight distinct racial differences in DDRGs and addresses the clinical utility by targeted therapy across AA and CA men. The percentage of patients with DDRG germline variation is of suitable threshold (23%) to consider early genetic testing for them in both AA and CA patients.
Clinical • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • PMS2 (PMS1 protein homolog 2) • RAD51 (RAD51 Homolog A) • RAD54L (DNA Repair And Recombination Protein RAD54)
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RAD54L mutation • PMS2 mutation
5ms
TSC2 is an FDA-recognized predictive marker for everolimus in central nervous system cancer and RAD54L is an FDA-recognized predictive marker for olaparib in prostate cancer. Our data showed that MUC16, ARID1A and ADAMTSL1 were observed in more than half of nasal-type ENKTL. Our data showed that MUC16, ARID1A and ADAMTSL1 were observed in more than half of nasal-type ENKTL. Additional mutations can be found in recurrent tumors but the relationship between the acquisition of new mutations and the treatment received was still poorly understood. TSC2 and RAD54L mutations were identified in some recurrent tumors which may serve as potential therapeutic targets for ENKTL.
Clinical • Next-generation sequencing • PARP Biomarker • IO biomarker
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PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • KMT2C (Lysine Methyltransferase 2C) • TSC2 (TSC complex subunit 2) • JAK1 (Janus Kinase 1) • FLT1 (Fms-related tyrosine kinase 1) • FAT1 (FAT atypical cadherin 1) • PIK3CG (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma) • JAK3 (Janus Kinase 3) • MUC16 (Mucin 16, Cell Surface Associated) • CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) • RAD54L (DNA Repair And Recombination Protein RAD54) • ABCC2 • ARID2 (AT-Rich Interaction Domain 2) • CDKN1B (Cyclin dependent kinase inhibitor 1B) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • FOXL2 (Forkhead Box L2)
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PTEN mutation • ARID1A mutation • ATRX mutation • EZH2 mutation • TSC2 mutation • JAK3 mutation • RAD54L mutation • FAT1 mutation • NBN mutation
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Lynparza (olaparib) • everolimus
5ms
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
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, 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) • CHEK1 (Checkpoint kinase 1) • RAD51D (RAD51 paralog D) • RAD54L (DNA Repair And Recombination Protein RAD54) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L)
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BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • BRIP1 mutation • CHEK2 mutation • RAD51C mutation • RAD51D mutation • RAD51B mutation • RAD54L mutation • BARD1 mutation • CHEK1 mutation • RAD51 mutation • CHEK1 expression
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oxaliplatin • irinotecan
6ms
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 • RAD51C mutation • RAD51D mutation • MRE11A mutation • RAD50 mutation • RAD51B 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)
12ms
This report highlights the clinical importance of next-generation sequencing technology in diagnosing rare tumours and investigating novel mechanisms for developing exceptional genetic diseases.
Clinical • Journal • Tumor Mutational Burden
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TMB (Tumor Mutational Burden) • RAD54L (DNA Repair And Recombination Protein RAD54)
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RAD54L mutation • POLE P286R
1year
Until very recently, FDA approved the first molecularly targeted therapy with the PARP inhibitor Olaparib for pancreatic cancer patients with germline mutations on BRCA1/2, two types of homologous recombination (HR)/DNA damage repair (DDR) genes...The BRCA1/2 germline mutations were found at low levels in our cohort (0.8%) compared to the American cohorts ( 2.4~2.7%), Furthermore, the whole DDR mutations exhibited highest proportion &lsqb;10.5% (27/256) from our study, compared with 7.3% (21/289) from Yurgelun, and 5.4% (10/185) from TCGA, respectively].CONCLUSIONIn conclusion,our results characterized the germline mutation landscape of DDRs in the largest oriental cohort of pancreatic cancer to date, and first discovered two novel germline mutations in pancreatic cancer. Most importantly, nearly 10% of PDAC patients in this study were found to harbor germline DDR mutations, which may benefit more patients with an effective therapeutic synergy for PARP and PD-1 inhibitors in clinical practice.
BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
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BRCA2 (Breast cancer 2, early onset) • BRCA1 (Breast cancer 1, early onset) • PALB2 (Partner and localizer of BRCA2) • MSH6 (MutS homolog 6) • ERCC2 (Excision repair cross-complementation group 2) • CHEK2 (Checkpoint kinase 2) • RAD54L (DNA Repair And Recombination Protein RAD54) • MUTYH (MutY homolog) • WRN (WRN RecQ Like Helicase)
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BRCA1 mutation • BRCA2 mutation • PALB2 mutation • MSH6 mutation • RAD54L mutation • MLH3 mutation
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Lynparza (olaparib)
1year
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) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • 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
Besides, 10.4% of NSCLC pts experience FP (fast progression) and/or early dearth (ED) upon atezolizumab... We revealed FP, HPD and ED have comparable PFS but significant difference is OS. We also demonstrated different genomic characteristics associated with different progression patterns upon ICI treatment, which might further facilitate clinicians to stratify pts for ICI therapy. Research Funding: Multidisciplinary collaborative innovation project of Shanghai chest hospital [YJXT20190204]
Clinical • Checkpoint inhibition • PD(L)-1 Biomarker • IO biomarker
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EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • STK11 (Serine/threonine kinase 11) • ARID1A (AT-rich interaction domain 1A) • MDM2 (E3 ubiquitin protein ligase) • MDM4 (The mouse double minute 4) • RAD54L (DNA Repair And Recombination Protein RAD54) • CDKN1B (Cyclin dependent kinase inhibitor 1B)
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KRAS mutation • HER-2 mutation • RET fusion • STK11 mutation • ARID1A mutation • ALK fusion • ALK mutation • MET mutation • KRAS mutation + STK11 mutation • MDM2 mutation • RAD54L mutation
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Tecentriq (atezolizumab)