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    GENE:

    BRCA2 (Breast cancer 2, early onset)

    i
    Other names: BRCA2, BRCC2, FACD, FAD, FAD1, FANCD, FANCD1, Breast cancer 2, early onset
    1d
    The Importance of Continued Vigilance after Risk-Reducing Mastectomy in BRCA Carriers: A Case Report. (PubMed, Breast Care (Basel))
    We describe the case of a 70-year-old woman who was found to harbor a BRCA2 mutation after diagnosis of ovarian cancer (OC) in her sister, underwent prophylactic surgery for BC and OC, as per international guidelines, and 4 years after was diagnosed with BC, metastatic to the ipsilateral axillary lymph nodes. This case highlights the importance of going on with active surveillance after RRM and the need of developing dedicated protocols about follow-up and breast imaging for these patients.
    Journal • BRCA Biomarker
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    BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
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    BRCA2 mutation • BRCA mutation
    1d
    Adjuvant chemotherapy combined with pembrolizumab immunotherapy for primary triple-negative neuroendocrine carcinoma of the breast: a case report and literature review. (PubMed, Front Immunol)
    Adjuvant therapy comprised paclitaxel (175 mg/m²) plus cisplatin (75 mg/m²) every 3 weeks for six cycles, combined with pembrolizumab (200 mg every 3 weeks). To our knowledge, this is one of the first reported cases of pembrolizumab combined with platinum-based chemotherapy in the adjuvant setting for primary triple-negative NEBC. This case provides hypothesis-generating evidence for chemo-immunotherapy in this rare, high-grade histologic subtype.
    Review • Journal • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • NCAM1 (Neural cell adhesion molecule 1)
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    BRCA2 mutation • BRCA1 mutation
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    Keytruda (pembrolizumab) • cisplatin • paclitaxel
    1d
    The Performance of In Silico Prediction Tools for Variant Curation in a Panel of Cancer Genes. (PubMed, Hum Mutat)
    Where there are sufficient numbers of established benign and pathogenic missense variants based on clinical and functional evidence, the use of in silico tool scores should be validated for individual genes. For genes where this is not possible and gene-agnostic in silico score cut-offs are used, consideration of missense variant-protein structural impact relationships is suggested.
    Journal
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    3d
    Breast cancer prevention in patients with gBRCA-mutated ovarian cancer. (PubMed, J Cancer Res Clin Oncol)
    In patients with gBRCA1/2mut and a history of HGSC, RRBM is rarely chosen. Most patients prefer an intensified surveillance program. Due to low metachronous breast cancer rate in follow up care, RRBM seems to be an option just for long-term survivors. Individual patient preferences play a crucial role in the management strategy.
    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
    5d
    ZEN003694 Combined With Talazoparib in Patients With Recurrent Ovarian Cancer (clinicaltrials.gov)
    P2, N=33, Recruiting, Alexander B Olawaiye, MD | Trial completion date: Mar 2033 --> Dec 2034 | Trial primary completion date: Dec 2031 --> Nov 2033
    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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    Talzenna (talazoparib) • ZEN-3694
    5d
    EVADE-1: A Phase 2a pilot study of evexomostat in patients with metastatic castration-resistant prostate cancer. (ACTRN12626000736347)
    P1/2, N=10, Not yet recruiting, Queensland University of Technology
    New P1/2 trial
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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    BRCA2 mutation • BRCA1 mutation
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    evexomostat (SDX-7320)
    5d
    Use of Family Relationships in Commercial Claims Data to Characterize Clinical Events of Patients with BRCA1/2 Cascade Testing. (PubMed, AMIA Jt Summits Transl Sci Proc)
    Also consistent with guidelines, more proband testers received BRCA1/2 testing after a breast cancer diagnosis compared to cascade testers, and more cascade testers had genetic counseling events pre-BRCA1/2 testing compared to proband testers. This technique and large BRCA1/2 genetic cascade testing cohort can open doors for new research.
    Journal
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    5d
    Nationwide survey of hereditary breast and ovarian cancer-related clinical practice in gynecologic oncology in Japan: a joint study by the Japan Society of Gynecologic Oncology (JSGO) and the Japan Society of Obstetrics and Gynecology (JSOG). (PubMed, J Gynecol Oncol)
    Although HBOC-related genetic testing and preventive strategies are widely implemented in Japan, this nationwide survey revealed critical structural and evidence gaps, particularly in institutional capacity and the management of evidence-limited scenarios such as STIC, underscoring the need for system-level improvement.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)
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    HRD
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    Myriad myChoice® CDx
    5d
    From Germline Susceptibility to Therapeutic Vulnerability: DNA Damage Response Gene Mutations Driving Multiple Myeloma Evolution and Precision Therapy. (PubMed, Hum Mutat)
    Moreover, DDR-associated vulnerabilities provide opportunities for precision therapies, including PARP inhibitor-based synthetic lethality strategies. This review summarizes the mechanistic and clinical significance of germline DDR alterations in MM and highlights their translational potential in precision oncology.
    Review • Journal • BRCA Biomarker • PARP Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CHEK2 (Checkpoint kinase 2)
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    BRCA2 mutation • BRCA1 mutation • ATM mutation • CHEK2 mutation
    5d
    Occult invasive and preneoplastic lesions at risk-reducing salpingo-oophorectomy in BRCA1/2 carriers: A multicenter retrospective cohort study. (PubMed, Gynecol Oncol)
    In this multicenter BRCA1/2 cohort, occult invasive or microinvasive primary tubo-ovarian malignancy and STIC were identified in approximately one in ten women undergoing RRSO. Most positive cases represented occult invasive or microinvasive malignancy, and BRCA1 c.5266dupC emerged as the dominant recurrent regional variant.
    Retrospective data • Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
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    BRCA2 mutation • BRCA1 mutation • BRCA mutation
    5d
    Long-Read Nanopore Sequencing Enhances BRCA1/2 Variant Detection Compared to Ion Torrent Analysis. (PubMed, J Mol Diagn)
    Importantly, ONT-LRS identified additional variants not detected by Ion Torrent, including a deep intronic variant predicted to alter splicing and one structural variant. This study suggest that ONT-LRS extends the diagnostic capabilities of short-read sequencing by enabling accurate detection of BRCA1 and BRCA2 deep intronic and structural variants that may otherwise be overlooked, with potential implications for patient management and family counselling.
    Journal
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    5d
    Hereditary Cancer Genetic Testing for All? A Retrospective Analysis on Genetic Mutations Found in Individuals Not Meeting NCCN® Guidelines. (PubMed, Eur J Breast Health)
    These findings support the potential value of expanded or universal genetic testing strategies, particularly in populations with limited family history or those outside current clinical criteria.
    Retrospective data • Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • BAP1 (BRCA1 Associated Protein 1) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • PMS2 (PMS1 protein homolog 2) • APC (APC Regulator Of WNT Signaling Pathway) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • MBD4 (Methyl-CpG Binding Domain 4, DNA Glycosylase) • MSH3 (MutS Homolog 3) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • MUTYH (MutY homolog) • FLCN (Folliculin) • POT1 (Protection of telomeres 1) • MITF (Melanocyte Inducing Transcription Factor) • SDHD (Succinate Dehydrogenase Complex Subunit D) • HOXB13 (Homeobox B13) • LZTR1 (Leucine Zipper Like Transcription Regulator 1) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)
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    ATM mutation • CHEK2 mutation • BRIP1 mutation • BARD1 mutation
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