BRCA1

Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity.

High-grade ovarian cancer — BRCA1/BRCA2 variant classification

Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity

Hereditary ovarian cancer — *BRCA1/2* variant classification

Targeting homologous recombination deficiency with intensified chemotherapy versus standard chemotherapy followed by olaparib in stage III breast cancer (SUBITO): an open-label, randomised, controlled, phase 3 trial

Stage III HER2-negative breast cancer with HRD / germline *BRCA1/2* mutation

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

Assessing the Clinical Relevance of BRCA1 RING Domain Variants of Uncertain Significance.

Hereditary breast and ovarian cancer (HBOC)

Choline metabolism drives metastasis in BRCA1-deficient ovarian cancers by activating FAM3C

*BRCA1*-deficient ovarian cancer — metastasis

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)

The Clinical Application of Refined Risk Estimates (caRe) Study in BRCA1 and BRCA2 Pathogenic Variant Carriers: A Randomized Controlled Trial

*BRCA1/2* carriers — risk communication and management decision-making

BRCA1 c.68_69del as a founder variant in the Spanish Roma: prevalence and screening implications

Hereditary breast and ovarian cancer — *BRCA1* founder variant in the Spanish Roma population

Frequency of germline pathogenic variants in breast cancer predisposing genes in a national cohort of young women with breast cancer

Breast cancer in young women (≤40 years) — germline predisposition

Spectrum of double heterozygosity in individuals diagnosed with hereditary breast and ovarian cancer

Hereditary breast and ovarian cancer — double heterozygosity

Damaging missense variants in innate immunity genes are associated with earlier age of breast cancer onset in BRCA1 185delAG carriers

Breast cancer penetrance modifiers in *BRCA1* 185delAG carriers

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

Randomized phase 2 trial of a PARP inhibitor TSL-1502 in germline BRCA-mutated, HER2-negative locally advanced/metastatic breast cancer.

HER2-negative locally advanced or metastatic breast cancer in germline BRCA carriers

A Decade of Hereditary Cancer Genetic Testing Results in Asian Indian population: Retrospective Study.

Hereditary cancers, Indian cohort

VAF-tumor content graph: a simple visual framework for interpreting hereditary cancer variants and supporting genetic counseling in tumor-only sequencing.

Interpretation of hereditary cancer variants in tumor-only sequencing

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

Genomic alterations enable BRCA1 methylation loss and promoter bypass to drive resistance in high-grade serous ovarian cancer

High-grade serous ovarian carcinoma

Long-Term Outcomes in Patients With Recurrent Ovarian Cancer and Exceptional Response to PARP Inhibitors

Recurrent ovarian cancer — exceptional response to PARP inhibitors

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

Hormone replacement therapy in healthy BRCA1 and 2 mutation carriers after risk-reducing salpingo-oophorectomy: a 5 Ws and 2 Hs practitioner toolkit.

Premature surgical menopause after risk-reducing salpingo-oophorectomy in BRCA carriers