BRCA1
HGNC ↗20 article(s) in the watch · Constitutional genetics · Cancer genetics
BRCA1 is a tumour-suppressor gene involved in DNA repair by homologous recombination. Pathogenic variants confer a high risk of breast and ovarian cancer (HBOC syndrome) and an increased risk of prostate and pancreatic cancer.
Curated publications
Constitutional BRCA1 promoter methylation as a biomarker for ovarian cancer risk.
Hereditary ovarian cancer / constitutional BRCA1 epimutation
Contralateral breast cancer risks for BRCA1, BRCA2, PALB2, CHEK2, and ATM pathogenic variant carriers: a meta-analysis
Contralateral breast cancer in BRCA1/2, PALB2, CHEK2, ATM pathogenic variant carriers
Decoding BRCA1 and BRCA2 Mutations in High-Grade Serous Ovarian Cancer: Impact on Prognosis, Platinum Response, and Actionability
Germline BRCA1/2-associated high-grade serous ovarian cancer — prognostic impact by variant topography
Opportunistic Screening of High-Risk Breast Cancer Variants in Hospital Biobank Participants
Opportunistic BRCA1, BRCA2, and PALB2 screening in Finnish hospital biobank participants
HRDetect in Tubo-ovarian Carcinoma: Stratification and Therapeutic Implications.
Tubo-ovarian carcinoma — HRD stratification and PARP inhibitor implications
Two decades of PARP inhibitor synthetic lethality in cancer.
BRCA1/BRCA2 hereditary breast, ovarian, prostate, and pancreatic cancer predisposition — PARP inhibitors as germline therapeutic biomarker
Ultra-rare functional variants reveal early-onset breast cancer risk genes and pathways in the UK Biobank and All of Us Research Program.
Early-onset breast cancer — ultra-rare germline variants in predisposition genes and pathways
Association between type and location of germline BRCA1/2 pathogenic or likely pathogenic variants with phenotype and prognosis in young patients with breast cancer
Hereditary breast cancer (HBOC) in young patients (≤40 years)
PRS-BC313 integration for tailored breast cancer prevention in female patients and their healthy relatives
Personalized breast cancer prevention in HBOC variant carriers (PRS-BC313 + CanRisk model)
Neoadjuvant pembrolizumab plus chemotherapy in germline BRCA-mutated early triple-negative breast cancer: real-world multicenter data
Germline BRCA1/2 early triple-negative breast cancer — response to neoadjuvant pembrolizumab plus chemotherapy
Radiation therapy management in BRCA1/2 carriers diagnosed with early breast cancer: An international cohort study.
Early breast cancer in BRCA1/2 carriers — radiotherapy vs mastectomy
Germline Pathogenic Variants in Breast Cancer-Predisposing Genes Among Early-Onset Female and Male Breast Cancer in Ethiopia.
Hereditary early-onset breast cancer (Ethiopia)
Survival Outcomes With or Without Risk-Reducing Mastectomy in BRCA1 and BRCA2 Pathogenic Variant Carriers
HBOC — Hereditary breast cancer (primary prevention)
Breast cancer germline multigene panel testing in mainstream oncology based on clinical-public health utility: ESMO Precision Oncology Working Group recommendations
Hereditary breast cancer — definition of the mainstream oncology testing panel
ACT-ON: Assisted cascade testing via outreach and navigation - Real-world experience with clinician-initiated, third-party-facilitated family cascade testing
Hereditary cancer predisposition — cascade testing implementation
Association of high and moderate penetrance monogenic variants, polygenic risk, and family history with breast cancer in an ancestrally diverse population.
Breast cancer — integration of monogenic variants, polygenic risk score, and family history in a diverse population
Impact of Ethnicity on the Uptake of Risk Reducing Mastectomy in Unaffected BRCA1/2 and PALB2 Carriers in Canada.
Risk-reducing mastectomy in BRCA1/2 and PALB2 carriers — ethnicity impact on uptake
Epithelial mesenchymal transition initiates precancer states in BRCA1 mutation carriers.
BRCA1 germline carriers — mammary precancerous states and susceptibility to epithelial-mesenchymal transition
Prevalence of BRCA1 and BRCA2 Variants in an Unselected Population of Women With Breast Cancer
Breast cancer — prevalence and ethnic disparities of BRCA1/2 variants
Targeted BRCA1/BRCA2 Sequencing in a Bangladeshi Clinically Referred Cohort Identifies Candidate BRCA1 Loss-of-Function Variants and a Multi-Exon Deletion-Like CNV Signal
Hereditary breast and ovarian cancer (HBOC) — Bangladeshi population