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    GENE:

    BRCA1 (Breast cancer 1, early onset)

    i
    Other names: BRCA1, BRCC1, PPP1R53, RNF53, Breast cancer 1, early onset
    1d
    Familial Disclosure and Cascade Testing in High-Risk Families is Influenced by Gene Variant Penetrance: Implications for Family based Breast Cancer Prevention. (PubMed, Res Sq)
    These data suggest that access to family-based counseling facilitated by cancer genetic experts improves understanding of familial risks and improves cascade testing following results disclosure. Our data support family based clinical interventions to optimize precision prevention and cancer control in high-risk individuals.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    1d
    Triple-negative breast cancer: current understanding and future perspectives. (PubMed, Explor Target Antitumor Ther)
    However, TNBC treatment remains challenging due to its severe biological heterogeneity, high metastatic potential, and the toxicity associated with systemic therapies. This review discusses the current understanding of TNBC biology, highlighting the urgent need for advanced diagnostics, integrated molecular subtyping, and personalized targeted therapies.
    Review • Journal • BRCA Biomarker • PARP Biomarker • IO biomarker
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    ER (Estrogen receptor) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA (Breast cancer early onset)
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    BRCA1 mutation • HER-2 expression • BRCA mutation
    1d
    Secretory Breast Carcinoma in A Six-Year-Old Girl: Case Report With Genetic Insights and Therapeutic Implications. (PubMed, Balkan J Med Genet)
    TRK inhibitors (larotrectinib, entrectinib, repotrectinib) are FDA/EMA-approved for pediatric and adult solid tumors with NTRK fusions and have demonstrated high and durable response rates. The identification of ETV6-NTRK3 provides diagnostic specificity and offers a precision oncology option in the event of relapse. Long-term surveillance and multidisciplinary follow-up remain essential for optimal care.
    Journal • BRCA Biomarker
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    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • PALB2 (Partner and localizer of BRCA2) • ETV6 (ETS Variant Transcription Factor 6) • CHEK2 (Checkpoint kinase 2) • MUC4 (Mucin 4, Cell Surface Associated) • NTRK (Neurotrophic receptor tyrosine kinase) • GATA3 (GATA binding protein 3)
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    HER-2 negative • NTRK fusion
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    Vitrakvi (larotrectinib) • Rozlytrek (entrectinib) • Augtyro (repotrectinib)
    1d
    Exploring the somatic mutational landscape of ovarian cancer in Estonia. (PubMed, Acta Oncol)
    This study outlines the mutational spectrum of OC in Estonia and demonstrates a substantial prevalence of actionable alterations and HRD. The findings highlight the value of comprehensive tumor profiling to support precision‑medicine approaches and improve individualized patient management in Estonia.
    Retrospective data • Journal • BRCA Biomarker
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    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)
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    HRD
    1d
    A Study of SYNC-T Therapy SV-102 in Participants With Metastatic Castration-Resistant Prostate Cancer (clinicaltrials.gov)
    P2, N=91, Recruiting, Syncromune, Inc. | N=70 --> 91 | Trial completion date: Dec 2027 --> Apr 2028 | Trial primary completion date: Dec 2027 --> Apr 2028
    Enrollment change • Trial completion date • Trial primary 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 • PALB2 mutation
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    SV-102
    2d
    Germline Pathogenic Variants in HER2-Positive Breast Cancer: Spectrum and Clinical Implications in a High-Risk Chinese Cohort. (PubMed, Cancer Med)
    This retrospective, single-center study comprised a clinically enriched high-risk cohort, which may limit the generalizability of prevalence estimates. The extended inclusion period and evolving classification standards, despite reannotation, represent inherent methodological constraints.
    Retrospective data • Journal • BRCA Biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
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    HER-2 positive • TP53 mutation • BRCA1 mutation • HER-2 negative
    2d
    Predictors of pathologic complete response in triple‑negative breast cancer treated with neoadjuvant chemotherapy: a systematic review and meta-analysis. (PubMed, Clin Exp Med)
    The likelihood of achieving pCR in TNBC patients undergoing NAC is significantly associated with clinical stage, Ki-67 expression, BRCA1/2 mutation status, and NLR. These factors should be evaluated prior to chemotherapy to help tailor treatment strategies and optimize therapeutic outcomes.
    Retrospective data • Review • Journal • BRCA 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
    2d
    FIMBRIMENOP-2402 trial: evaluating fimbriectomy with delayed oophorectomy in patients with high-risk tubo-ovarian cancer. (PubMed, Int J Gynecol Cancer)
    Final analysis is planned when all patients reach age 70 (around 2071). NCT06726330.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D)
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    BRCA1 mutation • PALB2 mutation • RAD51C mutation • RAD51D mutation
    2d
    Germline Pathogenic Variants in Breast Cancer-Predisposing Genes Among Early-Onset Female and Male Breast Cancer in Ethiopia. (PubMed, JCO Glob Oncol)
    Genetic predisposition plays an important role among young women and men in the study setting, with nearly one in four patients carrying a PV. The results call for further research and interventions targeting individuals at high risk, with the long-term potential of reduced morbidity and mortality.
    Journal • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • STK11 (Serine/threonine kinase 11) • PALB2 (Partner and localizer of BRCA2) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
    2d
    Multimodal molecular profiling of invasive ductal carcinoma: High concordance of qPCR with FISH in HER2 assessment and exomic landscape of high-risk subtypes. (PubMed, Pathol Res Pract)
    Our findings establish qPCR as a highly robust and accurate diagnostic adjunct for resolving clinically equivocal HER2 cases in IDC. Furthermore, while restricted to a limited exploratory subset, the integration of targeted genomic profiling identified complex mutational hubs driving aggressive breast cancer phenotypes. These hypothesis-generating insights provide a vital framework for bridging accurate diagnostic stratification with future precision oncology strategies.
    Journal • BRCA Biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • AR (Androgen receptor) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor)
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    HER-2 positive • TP53 mutation • HER-2 amplification
    2d
    Broad germline variant spectrum revealed by whole-exome sequencing in an underrepresented Latin American population with hereditary breast cancer. (PubMed, Hum Genomics)
    This study provides a comprehensive overview of the germline variant spectrum in Chilean patients with suspected hereditary BC and demonstrates the added value of extended gene analysis beyond canonical predisposition genes. These findings contribute to population-specific genomic data and support efforts to improve variant interpretation and equitable implementation of genomic medicine in underrepresented populations.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    2d
    MYC serine 62 phosphorylation promotes its association with DNA double-strand breaks to facilitate repair and cell survival under genotoxic stress. (PubMed, Genes Dev)
    Proteomic profiling of the MYC interactome confirms a conserved interaction with components of the DDR pathway. These findings establish pS62-MYC as a key regulator of genomic stability and a potential therapeutic target in cancers.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • RAD51 (RAD51 Homolog A)