BRCA1

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

Hereditary breast and ovarian cancer

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)

Prevalence of BRCA1/2 variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Program

Hereditary ovarian cancer

Chemotherapy type and survival in young BRCA1/BRCA2 carriers with HER2-negative early breast cancer.

HER2-negative early breast cancer in young carriers

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

IVF outcomes and aneuploidy rates in BRCA pathogenic variant carriers undergoing preimplantation genetic testing.

Hereditary breast and ovarian cancer predisposition

From genetic testing to prevention: an integrated clinical pathway for hereditary risk assessment in tubo-ovarian cancer

Hereditary tubo-ovarian cancer

Germline predisposition and somatic mutational landscape in synchronous mucinous metaplasia and neoplasia of the female genital tract.

Synchronous mucinous metaplasia and neoplasia of the female genital tract (SMMN-FGT)

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