Gene index

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.

InheritanceAutosomal dominant
Clinical spectrumBreast, ovary, prostate, pancreas (HBOC)
ManagementEnhanced surveillance (breast MRI), risk-reducing surgery (mastectomy, salpingo-oophorectomy), PARP inhibitors.

Curated publications

9/10

Constitutional BRCA1 promoter methylation as a biomarker for ovarian cancer risk.

Hereditary ovarian cancer / constitutional BRCA1 epimutation

Onco16 June 2026
9/10

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

Onco10 June 2026
9/10

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

Onco10 June 2026
8/10

Opportunistic Screening of High-Risk Breast Cancer Variants in Hospital Biobank Participants

Opportunistic BRCA1, BRCA2, and PALB2 screening in Finnish hospital biobank participants

Onco10 June 2026
8/10

HRDetect in Tubo-ovarian Carcinoma: Stratification and Therapeutic Implications.

Tubo-ovarian carcinoma — HRD stratification and PARP inhibitor implications

Onco3 June 2026
8/10

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

Onco13 May 2026
8/10

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

Onco13 May 2026
8/10

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)

Onco6 May 2026
7/10

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)

Gén.10 June 2026
7/10

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

Onco10 June 2026
7/10

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

Onco3 June 2026
7/10

Germline Pathogenic Variants in Breast Cancer-Predisposing Genes Among Early-Onset Female and Male Breast Cancer in Ethiopia.

Hereditary early-onset breast cancer (Ethiopia)

Onco20 May 2026
7/10

Survival Outcomes With or Without Risk-Reducing Mastectomy in BRCA1 and BRCA2 Pathogenic Variant Carriers

HBOC — Hereditary breast cancer (primary prevention)

Onco6 May 2026
7/10

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

Onco6 May 2026
7/10

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

Onco6 May 2026
6/10

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

Onco3 June 2026
6/10

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

Onco3 June 2026
6/10

Epithelial mesenchymal transition initiates precancer states in BRCA1 mutation carriers.

BRCA1 germline carriers — mammary precancerous states and susceptibility to epithelial-mesenchymal transition

Onco13 May 2026
6/10

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

Onco6 May 2026
5/10

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

Onco27 May 2026