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BIOMARKER:

BRCA1 mutation

i
Other names: BRCA1, BRCC1, PPP1R53, RNF53, Breast cancer 1, early onset
Entrez ID:
Related tests:
1d
Trial completion date
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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BRCA2 mutation • BRCA1 mutation
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Avastin (bevacizumab) • Lynparza (olaparib) • carboplatin • Imfinzi (durvalumab) • paclitaxel
1d
Alkylating agents activate an SLFN11-dependent vulnerability that confers PARP-1 inhibitor sensitivity in kidney cancer. (PubMed, J Exp Clin Cancer Res)
Our findings reveal an intrinsic SLFN11-dependent vulnerability in ccRCC that synergizes with alkylating agents to induce an acquired PARP-1 dependency, thereby sensitizing BRCA1/2-WT tumors to PARP inhibition. Therefore, this work uncovers a potential therapeutic strategy for targeting SLFN11-high kidney cancers.
Journal • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • SLFN11 (Schlafen Family Member 11)
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BRCA2 mutation • BRCA1 mutation • BRCA wild-type
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Lynparza (olaparib) • temozolomide • Zanosar (streptozocin)
2d
Multimodal therapy for ovarian cancer with brain metastases diagnosed synchronously at the initial phase: case report of a long-term survivor with comprehensive literature review. (PubMed, Gynecol Oncol Rep)
Complete remission was obtained using stereotactic radiotherapy to the brain lesions, followed by platinum-based chemotherapy and maintenance therapy with bevacizumab and olaparib...Their role in this setting remains emerging and primarily supported by limited case reports and small series. Further studies are required to better define their role.
Journal • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset)
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BRCA1 mutation
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Avastin (bevacizumab) • Lynparza (olaparib) • Zejula (niraparib)
2d
Expert Consensus on the Clinical Application of Poly ADP Ribose Polymerase Inhibitors in Breast Cancer (2025 Edition). (PubMed, Cancer Innov)
Currently, PARP inhibitors such as Olaparib and Fluzoparib have been approved for clinical use. This consensus, based on the latest evidence-based medical data, provides guidance on the standardized application and safety management of PARP inhibitors in breast cancer treatment, aiming to serve as a reference for clinical practice.
Journal • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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BRCA2 mutation • BRCA1 mutation
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Lynparza (olaparib) • AiRuiYi (fluzoparib)
2d
Germline testing, access to genetic counseling, and treatment implications in advanced breast cancer. (PubMed, Ann Med Surg (Lond))
Supportive services such as counseling, support groups, and integrative therapy could assist patients and their families in overcoming emotional, social and spiritual needs. Besides treatment, clinical trials could enhance cancer research and lead to effective treatment.
Journal • BRCA Biomarker • IO biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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BRCA1 mutation
5d
New P3 trial
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
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BRCA2 mutation • BRCA1 mutation • HER-2 negative • ER negative
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capecitabine • Jiataile (sacituzumab tirumotecan)
5d
Loss of CHTF18-RFC2/5 leads to replicative gaps and sensitivity to PARP inhibitors. (PubMed, NAR Cancer)
By performing transient silencing experiments, we highlight PARP1-PARP2 trapping at replicative gaps as a major determinant of sensitivity to these compounds. Crucially, loss of 53BP1 does not rescue PARPi sensitivity in CHTF18 KO cells, outlining Polε and the CHTF18-RFC2/5 complex as potential novel targets for cancer therapeutics.
Journal • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RAD51 (RAD51 Homolog A) • TP53BP1 (Tumor Protein P53 Binding Protein 1) • PARP2 (Poly(ADP-Ribose) Polymerase 2)
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BRCA2 mutation • BRCA1 mutation
6d
STN1 upregulation promotes PARPi resistance in BRCA2-deficient cancer cells via replication fork protection and suppression of ssDNA gap formation. (PubMed, bioRxiv)
We observe that overexpression of STN1 enhances Olaparib resistance in multiple BRCA2-deficient cell lines and alleviates DNA damage under replication stress...Taken together, these findings suggest that elevated STN1 levels can partially compensate for BRCA2 loss by stabilizing stalled replication forks and limiting ssDNA gap accumulation. Our study uncovers a STN1-dependent pathway of replication stress tolerance that promotes PARPi resistance independently of homologous recombination restoration, highlighting STN1 as a potential biomarker and mechanistic contributor to therapeutic resistance in BRCA2-mutated cancers.
Journal • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RAD51 (RAD51 Homolog A) • MRE11A (MRE11 homolog, double strand break repair nuclease)
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BRCA2 mutation • BRCA1 mutation
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Lynparza (olaparib)
6d
Impact of Germline BRCA1/2 Mutations on Clinical Outcomes in Metastatic Triple-Negative Breast Cancer Patients Treated with Sacituzumab Govitecan-An International CEBCC Study from Poland, the Czech Republic and Slovakia. (PubMed, Oncol Res)
In multivariable analysis, Eastern Cooperative Oncology Group (ECOG) performance status was the only independent predictor of poorer survival (hazard ratio 1.97, 95% CI 1.42-2.74, p < 0.01), while gBRCA1/2 status showed no independent association. In this large retrospective cohort of mTNBC patients treated with SG, the presence of gBRCA1/2 was not associated with statistically significant differences in PFS or OS.
Clinical data • Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
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BRCA2 mutation • BRCA1 mutation • BRCA wild-type
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Trodelvy (sacituzumab govitecan-hziy)
6d
Network toxicology and molecular docking identify BRCA1 as a functional target of the dietary carcinogen PhIP in colorectal cancer. (PubMed, Discov Oncol)
PhIP acts on the core target BRCA1 and participates in colorectal cancer development through mechanisms affecting immune cells, gene mutations, etc. BRCA1 has good diagnostic efficacy and prognostic value in colorectal cancer and is expected to become a new diagnostic and prognostic target for colorectal cancer.
Journal • BRCA Biomarker • IO biomarker
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ER (Estrogen receptor) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BCL2 (B-cell CLL/lymphoma 2)
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TP53 mutation • BRCA1 mutation
7d
Tuvusertib Combined With Niraparib or Lartesertib in Participants With Epithelial Ovarian Cancer (DDRiver EOC 302) (clinicaltrials.gov)
P2, N=63, Active, not recruiting, EMD Serono Research & Development Institute, Inc. | Trial primary completion date: Sep 2025 --> Jun 2026
Trial primary completion date
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)
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BRCA1 mutation • HRD
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Zejula (niraparib) • tuvusertib (M1774) • lartesertib (M4076)
9d
Spatial, temporal, and molecular heterogeneity of ADC targets in high-grade serous ovarian carcinoma. (PubMed, Br J Cancer)
ADC targets in HGSOC display limited molecular but significant spatial and temporal heterogeneity, with expression classifications varying by site and time. FolR1 expression in adnexal tumours associates with aggressive disease.
Journal • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • FOLR1 ( Folate receptor alpha ) • TACSTD2 (Tumor Associated Calcium Signal Transducer 2)
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TP53 mutation • BRCA2 mutation • BRCA1 mutation • HRD • FOLR1 expression