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    GENE:

    BRCA1 (Breast cancer 1, early onset)

    i
    Other names: BRCA1, BRCC1, PPP1R53, RNF53, Breast cancer 1, early onset
    2d
    PARP inhibitors in testicular germ cell tumors: what we know and what we are looking for. (PubMed, Front Genet)
    However, few responses to PARPis in TGCTs have been detected in patients with BRCA1/2, ATM or CHEK2 mutations, reinforcing the idea that patients should be optimally selected for tailored treatments in the era of personalized medicine. Future preclinical and clinical research is needed to further investigate the molecular mechanisms of cisplatin resistance and to identify novel therapeutic strategies in resistant/refractory TGCTs patients.
    Review • Journal • BRCA Biomarker • PARP Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • CHEK2 (Checkpoint kinase 2)
    |
    CHEK2 mutation
    |
    cisplatin
    2d
    Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers. (PubMed, J Mol Diagn)
    The results demonstrate that this test can accurately quantitate the level of promoter methylation at the BRCA1 and RAD51C genes using FFPE samples, even when the extracted DNA is extremely degraded or the input amount is limited. This test increases the precision of diagnostic tests aimed at identifying patients who are likely and unlikely to respond to PARP inhibitor therapy.
    Journal • BRCA Biomarker • PARP Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • HRD (Homologous Recombination Deficiency) • RAD51C (RAD51 paralog C)
    3d
    NCI 9938: M6620 and Irinotecan Hydrochloride in Treating Patients With Solid Tumors That Are Metastatic or Cannot Be Removed by Surgery (clinicaltrials.gov)
    P1, N=66, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Dec 2024 --> Dec 2025
    Trial completion date • Combination therapy • Surgery • Metastases
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    |
    BRCA2 mutation • BRCA1 mutation • ATM mutation • PALB2 mutation
    |
    irinotecan • berzosertib (M6620)
    4d
    Enhancing the detection of clinically relevant biomarkers in advanced uterine and tubo-ovarian carcinomas through genome-wide analysis. (PubMed, Pathol Res Pract)
    Comprehensive genomic profiling of advanced-stage TOC and UC via WGS reveals key biomarkers and therapeutic targets, enhancing diagnostic accuracy and advancing personalized medicine in gynecological cancers.
    Journal • Tumor mutational burden • BRCA Biomarker • PARP Biomarker • Metastases
    |
    TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CCNE1 (Cyclin E1) • CDK12 (Cyclin dependent kinase 12)
    |
    TMB-H • HRD • BRCA wild-type • CCNE1 amplification
    4d
    Proline variants in the BRCA1 coiled-coil domain disrupt folding and binding to PALB2. (PubMed, Protein Sci)
    Structural analysis indicates that all BRCA1 mutations to proline tested disrupt α-helix formation and therefore are not well tolerated even when located at positions outside of the PALB2-binding interface. This assay and the structural hypothesis described will be helpful for assessing risk for variants identified in the future in the BRCA1/PALB2 interaction domains.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • PALB2 (Partner and localizer of BRCA2)
    |
    BRCA1 mutation • PALB2 mutation
    4d
    Incorporation of BRCA1 testing into prenatal carrier screening for hereditary breast and ovarian cancer prevention should take carrier rates into account. (PubMed, Am J Obstet Gynecol)
    No abstract available
    Journal
    |
    BRCA1 (Breast cancer 1, early onset)
    5d
    Nicaraven enhances the cytotoxicity of X-ray irradiation in cancer cells with homologous recombination deficiency. (PubMed, Biochem Biophys Res Commun)
    These data suggest that the combination of nicaraven with X-ray irradiation selectively increases the cytotoxic effects of X-ray irradiation on HR-deficient cancer cells. Thus, nicaraven might be a valuable agent for cancer therapy, particularly in combination with radiotherapy.
    Journal
    |
    BRCA1 (Breast cancer 1, early onset) • HRD (Homologous Recombination Deficiency) • RAD51 (RAD51 Homolog A)
    |
    HRD
    5d
    Cisplatin With or Without Veliparib in Treating Patients With Recurrent or Metastatic Triple-Negative and/or BRCA Mutation-Associated Breast Cancer With or Without Brain Metastases (clinicaltrials.gov)
    P2, N=333, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Oct 2024 --> Mar 2025 | Trial primary completion date: Oct 2024 --> Mar 2025
    Trial completion date • Trial primary completion date • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • HER-2 negative • BRCA mutation
    |
    Prosigna™ Breast Cancer Prognostic Gene Signature Assay
    |
    cisplatin • veliparib (ABT-888)
    5d
    EVER-132-001: Study of Sacituzumab Govitecan in Chinese Patients With Metastatic Triple-negative Breast Cancer Who Received at Least Two Prior Treatments (clinicaltrials.gov)
    P2, N=80, Active, not recruiting, Gilead Sciences | Trial completion date: Dec 2024 --> Dec 2025
    Trial completion date • Metastases
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    |
    BRCA2 mutation • BRCA1 mutation
    |
    Trodelvy (sacituzumab govitecan-hziy)
    5d
    Population-based germline testing of BRCA1, BRCA2, and PALB2 in breast cancer patients in the United Kingdom: Evidence to support extended testing, and definition of groups who may not require testing. (PubMed, Genet Med Open)
    The best strategy to detect all PVs was an MS ≥3 with specificity of 32.6%. In order to detect higher PV rates on a population basis the best strategy is to reduce the MS threshold for genetic testing.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • BRCA (Breast cancer early onset)
    5d
    Cancer burden in individuals with single versus double pathogenic variants in cancer susceptibility genes. (PubMed, Genet Med Open)
    Individuals with ATM+CHEK2 or 2 CHEK2 PVs have a greater cancer burden than single gene controls. These findings can be used to counsel individuals with DPVs and their families and inform cancer screening recommendations.
    Journal
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2)
    5d
    Combining rare and common genetic variants improves population risk stratification for breast cancer. (PubMed, Genet Med Open)
    Moreover, women with a pLOF in ATM or CHEK2 and ranking in the top 50% of the PRS displayed a high risk (39.2% probability of breast cancer at age 70), whereas their counterparts in the bottom 50% of the PRS were not at high risk (14.4% probability at age 70). Our findings suggest that a combined monogenic and polygenic approach allowed a better identification of participants with high risk while minimizing false positives.
    Journal
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2)
    5d
    Integrated immunogenomic analyses of high-grade serous ovarian cancer reveal vulnerability to combination immunotherapy. (PubMed, Front Immunol)
    Genomic instability in HGSOC affects the tumor immune environment, and TAMs play a crucial role in modulating the immune response. Based on various datasets, we have developed a diagnostic application that uses RNA sequencing data not only to comprehensively characterize HGSOC but also to predict vulnerability and response to combination immunotherapy.
    Journal • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
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    BRCA1 (Breast cancer 1, early onset) • HRD (Homologous Recombination Deficiency) • LILRB4 (Leukocyte Immunoglobulin Like Receptor B4) • TREM2 (Triggering Receptor Expressed On Myeloid Cells 2)
    |
    BRCA1 mutation
    5d
    Prognostic implications of ductal carcinoma in situ components in BRCA1/2-positive breast cancer: a retrospective cohort study. (PubMed, Ann Surg Treat Res)
    The presence of a DCIS component carries varied prognostic significance in BRCA1 and BRCA2 mutations. A tailored approach may be necessary when determining treatment options for breast cancer patients with BRCA1/2 mutations based on the presence of DCIS.
    Retrospective data • Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • BRCA1 mutation + BRCA2 mutation • BRCA1 positive • BRCA2 positive
    6d
    Identification and Validation of Molecular Features of the Anoikis Gene-Related Hub Genes in Nasopharyngeal Carcinoma. (PubMed, Appl Biochem Biotechnol)
    This study identifies MYC, FN1, BRCA1, and FGF2 as anoikis-related genes (ARGs) with significant regulatory roles in nasopharyngeal carcinoma (NPC). These ARGs are found to be involved in the development and progression of NPC, suggesting their potential as therapeutic targets for this cancer.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • CD4 (CD4 Molecule) • FGF2 (Fibroblast Growth Factor 2)
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    MYC positive
    6d
    BRD7 enhances the radiosensitivity of nasopharyngeal carcinoma cells by negatively regulating USP5/METTL3 axis-mediated homologous recombination repair. (PubMed, Int J Biol Sci)
    Moreover, high BRD7 expression and low METTL3 expression are positively correlated with radiosensitivity and good prognosis in NPC patients. Taken together, our findings reveal that BRD7 promotes the radiosensitization of NPC cells by negatively regulating USP5/METTL3 axis activity and indicate that targeting the BRD7/METTL3 axis might be a novel therapeutic strategy for NPC radiosensitization.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • HRD (Homologous Recombination Deficiency) • RAD51 (RAD51 Homolog A) • BRD7 (Bromodomain Containing 7) • METTL3 (Methyltransferase Like 3) • USP5 (Ubiquitin Specific Peptidase 5)
    6d
    OptiTROP-Breast01: SKB264 Injection Vs Investigator Selected Regimens to Treat Locally Advanced, Recurrent or Metastatic Triple-negative Breast Cancer (clinicaltrials.gov)
    P3, N=254, Active, not recruiting, Sichuan Kelun Pharmaceutical Research Institute Co., Ltd. | Trial completion date: Dec 2024 --> Mar 2025
    Trial completion date • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    |
    BRCA2 mutation • BRCA1 mutation • HER-2 negative • HER-2 expression • PGR negative • HER-2 negative + HR positive + BRCA mutation
    |
    gemcitabine • capecitabine • Halaven (eribulin mesylate) • vinorelbine tartrate • sacituzumab tirumotecan (MK-2870)
    6d
    Carboplatin With or Without Atezolizumab in Treating Patients With Stage IV Triple Negative Breast Cancer (clinicaltrials.gov)
    P2, N=106, Completed, Vanderbilt-Ingram Cancer Center | Active, not recruiting --> Completed
    Trial completion • Tumor mutational burden • IO biomarker • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • BRCA (Breast cancer early onset) • INPP4B (Inositol polyphosphate-4-phosphatase type II B)
    |
    HER-2 negative • PIK3CA mutation • PTEN mutation
    |
    Tecentriq (atezolizumab) • carboplatin
    6d
    Niraparib in Tumors Metastatic to the CNS (clinicaltrials.gov)
    P2, N=20, Recruiting, Massachusetts General Hospital | Trial completion date: Dec 2026 --> Jun 2027 | Trial primary completion date: Dec 2024 --> Dec 2025
    Trial completion date • Trial primary completion date • Metastases
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BAP1 (BRCA1 Associated Protein 1) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • XRCC2 (X-Ray Repair Cross Complementing 2) • RAD54B (RAD54 Homolog B) • XRCC3 (X-Ray Repair Cross Complementing 3)
    |
    BRCA1 mutation • HRD • ATM mutation • PALB2 mutation • BAP1 mutation • BRIP1 mutation • HRD + BRCA1 mutation • RAD51C mutation • RAD51D mutation • RAD50 mutation • RAD51B mutation • BARD1 mutation • MRE11A mutation • RAD54L mutation • NBN mutation • HRD signature
    |
    Zejula (niraparib)
    6d
    TUMOSPEC: Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes. (clinicaltrials.gov)
    P=N/A, N=7274, Active, not recruiting, UNICANCER | Trial primary completion date: Sep 2024 --> Sep 2025
    Trial primary completion date
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    6d
    Testing the Addition of Abemaciclib to Olaparib for Women With Recurrent Ovarian Cancer (clinicaltrials.gov)
    P1, N=42, Recruiting, National Cancer Institute (NCI) | Trial completion date: Dec 2024 --> Nov 2025 | Trial primary completion date: Dec 2024 --> Nov 2025
    Trial completion date • Trial primary completion date
    |
    BRCA1 (Breast cancer 1, early onset) • HRD (Homologous Recombination Deficiency) • CCNE1 (Cyclin E1) • BRCA (Breast cancer early onset) • CASP3 (Caspase 3)
    |
    HRD
    |
    Lynparza (olaparib) • Verzenio (abemaciclib)
    7d
    Predicting the likelihood of BRCA1/2 germline pathogenic variants in unselected patients with breast cancer: analysis of more than 10,000 individuals. (PubMed, J Med Genet)
    Our model provides a useful tool for accurately assessing the BRCA1/2 carrier probability for unselected patients with breast cancer.
    Journal • BRCA Biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    7d
    Hiding in plain sight: a partial deletion of BRCA1 exon 7 undetectable by MLPA is a Nepali founder variant. (PubMed, J Med Genet)
    No abstract available
    Journal
    |
    BRCA1 (Breast cancer 1, early onset)
    7d
    Integration of Ayurvedic and Allopathic treatment in hereditary breast and ovarian cancer patient with Germline BRCA1 mutation for long term disease free survival: A case report. (PubMed, J Ayurveda Integr Med)
    Methotrexate and Inj. Carboplatin from June to August 2004 followed by optimum cytoreduction in September 2004...Tab Etoposide was given from December 2004 to October 2006...Now she is living with better quality of life with adjunct Ayurvedic treatment, including Oral Ayurvedic Medicines possessing Rasayana (immunomodulatory) and hepato-protective activity and 12 sets of Panchakarma Chikitsa. In this case of Stage IIIA Ovarian carcinoma and second primary Breast carcinoma with BRCA 1 genetic mutation (HBOC syndrome), a long-term 13 years of disease-free survival, and 20 years of overall survival is achieved with the integration of Ayurvedic treatment and conventional cancer treatment.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA (Breast cancer early onset)
    |
    BRCA1 mutation • BRCA mutation
    |
    carboplatin • etoposide IV • methotrexate
    7d
    Response to Carboplatin and Paclitaxel in the treatment of hereditary breast ovarian cancer syndrome (HBOC): a case report. (PubMed, J Pak Med Assoc)
    This dynamic treatment not only led to nearly complete remission of high-grade ovarian serous cancer but also triggered regression in grade-2 invasive ductal breast cancer after just a few rounds of chemotherapy. Consequently, what started as palliative care evolved into a curative triumph.
    Journal • BRCA Biomarker
    |
    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1)
    |
    TP53 mutation • BRCA2 mutation • BRCA1 mutation • PALB2 mutation • CHEK1 mutation • CHEK1 expression
    |
    carboplatin • paclitaxel
    8d
    Phosphorylation of 'SDT-like' motifs in ATRX mediates its interaction with the MRN complex and is important for ALT pathway suppression. (PubMed, Open Biol)
    Furthermore, treatment with a casein kinase 2 inhibitor prevented the ability of ATRX to bind MRN, suggesting that phosphorylation of these residues by casein kinase 2 is also important for the interaction. Finally, we show that a functional ATRX-MRN interaction is important for the ability of ATRX to prevent induction of ALT hallmarks in the presence of chemotherapeutically induced DNA-protein crosslinks, and might also have implications for individuals with ATR-X syndrome.
    Journal
    |
    BRCA1 (Breast cancer 1, early onset) • ATRX (ATRX Chromatin Remodeler)
    8d
    Novel BRCA1-PLK1-CIP2A axis orchestrates homologous recombination-mediated DNA repair to maintain chromosome integrity during oocyte meiosis. (PubMed, Nucleic Acids Res)
    Importantly, the impaired chromosomal recruitment of CIP2A could be rescued by PLK1 inhibition. Consequently, our findings not only underscore the importance of the chromosomal recruitment of CIP2A in preventing chromosome fragmentation, but also demonstrate the regulatory role of the BRCA1-PLK1-CIP2A axis in this process during oocyte meiotic maturation.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • PLK1 (Polo Like Kinase 1) • CIP2A (Cellular Inhibitor Of PP2A)
    8d
    Role of BRCA1 in glioblastoma etiology. (PubMed, Cell Oncol (Dordr))
    Despite these advances, the heterogeneity of glioblastoma and its complex tumor microenvironment make the translation of such approaches into clinical practice still challenging, and there is an "unmet need". This review discusses the current mechanisms of etiology and potential treatment of BRCA1-related glioblastoma.
    Review • Journal • BRCA Biomarker • PARP Biomarker
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    BRCA1 (Breast cancer 1, early onset) • PTEN (Phosphatase and tensin homolog)
    |
    BRCA1 mutation • BRCA1 expression
    8d
    Proteomic biomarkers profiling in Pakistani pancreatic ductal adenocarcinoma population: a retrospective cohort study. (PubMed, Biomark Med)
    Moreover, KRAS expression was shown to be significantly associated with perineural invasion (p = 0.005). This is the first study that investigates protein biomarker expression in a large cohort of Pakistani PDAC patients. The findings from the study may provide directions about the population specific biomarkers and targeted therapies for these patients.
    Retrospective data • Journal • BRCA Biomarker
    |
    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset)
    |
    TP53 expression • BRCA1 expression
    9d
    Measuring the Effects of Talazoparib in Patients With Advanced Cancer and DNA Repair Variations (clinicaltrials.gov)
    P2, N=36, Recruiting, National Cancer Institute (NCI) | Trial completion date: Dec 2024 --> Dec 2026 | Trial primary completion date: Dec 2024 --> Dec 2026
    Trial completion date • Trial primary completion date • Metastases
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • FANCF (FA complementation group F) • FANCL (FA Complementation Group L) • FANCI (FA Complementation Group I) • FANCM (FA Complementation Group M) • BACH1 (BTB Domain And CNC Homolog 1) • FANCD2 (FA Complementation Group D2) • FANCE (FA Complementation Group E) • FANCG (FA Complementation Group G) • FANCB (FA Complementation Group B) • FANCC (FA Complementation Group C)
    |
    BRCA2 mutation • BRCA1 mutation • ATM mutation
    |
    Talzenna (talazoparib)
    9d
    Research progress on pathogenic germline mutations in malignant tumors (PubMed, Zhonghua Yi Xue Yi Chuan Xue Za Zhi)
    With the development of next-generation sequencing technology, more and more germline gene mutations have been discovered recently, which is of great significance for the prevention, screening, and treatment of tumors. This article has provided a review for common germline mutations, detection methods, and advances in drug therapy.
    Review • Journal • BRCA Biomarker
    |
    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • MLH1 (MutL homolog 1) • PMS1 (PMS1 protein homolog 1)
    |
    TP53 mutation • BRCA2 mutation • BRCA1 mutation
    9d
    Efficacy and Safety of Olaparib (MK-7339) in Participants With Previously Treated, Homologous Recombination Repair Mutation (HRRm) or Homologous Recombination Deficiency (HRD) Positive Advanced Cancer (MK-7339-002 / LYNK-002) (clinicaltrials.gov)
    P2, N=390, Active, not recruiting, Merck Sharp & Dohme LLC | Recruiting --> Active, not recruiting
    Enrollment closed • Metastases
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • PGR positive • BRCA mutation
    |
    Lynparza (olaparib)
    10d
    Can Morphology and Immune Infiltration Predict the Homologous Recombination Deficiency Status in Newly Diagnosed High-Grade Serous Ovarian Carcinoma? (PubMed, Arch Pathol Lab Med)
    The combination of these 3 criteria showed high specificity (0.99; 95% CI, 0.97-0.99) but low sensitivity (0.07; 95% CI, 0.04-0.10). The morphology of HGSOC correlates with HRD status and BRCA status but cannot substitute for molecular analysis in daily practice.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)
    |
    BRCA1 mutation • HRD • HRD + BRCA1 mutation • BRCA mutation
    |
    Myriad myChoice® CDx Plus
    11d
    Molecular testing of gastrointestinal tumours - current status and future prospects. (PubMed, Rozhl Chir)
    In gallbladder and biliary tract cancers, we are mainly looking for IDH1 and IDH2 mutations, FGFR2 gene fusions and mutations, HER2 amplifications or mutations, as well as mutations of BRAF or BRCA1/2. All results should be discussed within the molecular tumor board.
    Review • Journal • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)
    |
    PD-L1 expression • BRCA2 mutation • BRCA1 mutation • BRAF mutation • HER-2 amplification • NRAS mutation • HER-2 expression • IDH2 mutation • FGFR2 mutation • FGFR2 fusion • HER-2 amplification + PD-L1 expression
    11d
    The frequency of known germline LGR4 missense variant in the ethnic groups of West Siberia. (PubMed, Mol Biol Rep)
    We found no statistically significant differences in the rs34804482 frequency between breast cancer patients and healthy individuals in the ethnic groups studied. The highest frequency of this missense germline variant was observed among Tuvans.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RAD51 (RAD51 Homolog A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • LGR4 (Leucine Rich Repeat Containing G Protein-Coupled Receptor 4)
    11d
    BRCA1 & BRCA2 methylation as a prognostic and predictive biomarker in cancer: Implementation in liquid biopsy in the era of precision medicine. (PubMed, Clin Epigenetics)
    We believe that BRCA1/2 methylation alone or combined with other biomarkers in a clinical setting is expected to change the scenery in prognosis and predicting treatment response in multiple cancer types and is worthy of further attention. The quantitative BRCA1 promoter methylation assessment might predict treatment response in PARPi and analysis of BRCA1/2 methylation in liquid biopsy might define patient subgroups at different time points that may benefit from PARPi. Finally, we suggest a pipeline that could be implemented in liquid biopsy to aid precision pharmacotherapy in BRCA-associated tumors.
    Review • Journal • Liquid biopsy • BRCA Biomarker • PARP Biomarker • Biopsy
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • BRCA1 promoter methylation
    11d
    A missense variant effect map for the human tumor-suppressor protein CHK2. (PubMed, Am J Hum Genet)
    It also provides strong evidence toward pathogenicity for some clinical missense variants and supporting evidence toward benignity for others. Overall, this comprehensive missense variant effect map contributes to understanding of both known and yet-to-be-observed CHK2 variants.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • CHEK2 (Checkpoint kinase 2)
    12d
    Cancer-Control Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer With BRCA Gene or Tumor Suppressor Mutations Undergoing 177-Lutetium Prostate-Specific Membrane Antigen Radioligand Therapy. (PubMed, JCO Precis Oncol)
    In real-world setting, substantially lower OS in mCRPC is observed for BRCA- and PTEN/TP53/RB1-mutated patients, whereas no difference in first-line PFS could be computed. In Lu-PSMA-treated patients, worst outcomes were observed for BRCA patients.
    Journal • BRCA Biomarker • Metastases
    |
    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • BRCA (Breast cancer early onset)
    |
    TP53 mutation • PTEN mutation • RB1 mutation • BRCA mutation
    12d
    A phase II study evaluating safety and efficacy of niraparib in patients with previously treated homologous recombination defective metastatic esophageal/gastroesophageal junction/proximal gastric adenocarcinoma. (PubMed, Front Oncol)
    The most common adverse events seen were anemia, fatigue, and thrombocytopenia. In patients with metastatic EAC, single agent niraparib as second line therapy is not an effective option.
    P2 data • Journal • Metastases
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ARID1A (AT-rich interaction domain 1A) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • GEN1 (GEN1 Holliday junction 5' flap endonuclease) • PARP2 (Poly(ADP-Ribose) Polymerase 2)
    |
    FANCA deletion
    |
    Zejula (niraparib)
    12d
    Recent and Future Developments in the Use of Poly (ADP-ribose) Polymerase Inhibitors for Prostate Cancer. (PubMed, Eur Urol Oncol)
    PARPi are active against PCa with HRR mutations, especially in those with germline or somatic BRCA1/2 mutations.  There is still a need to further optimize patient stratification strategies, particularly for combination approaches. Future research should focus on refining predictive biomarkers, improving treatment delivery strategies, and exploring the potential benefits of PARPi in earlier stages of the disease.
    Review • Journal • BRCA Biomarker • PARP 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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    BRCA2 mutation • BRCA1 mutation
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    Lynparza (olaparib) • Talzenna (talazoparib) • Zejula (niraparib) • Rubraca (rucaparib)
    12d
    [18F]Fluorthanatrace PET in Ovarian Cancer: Comparison with [18F]FDG PET, Lesion Location, Tumor Grade, and Breast Cancer Gene Mutation Status. (PubMed, J Nucl Med)
    Our findings suggest that [18F]FTT PET may provide unique information on ovarian cancer distinct from [18F]FDG PET and commonly assessed tumor features. Our results imply a wide range of PARP1 expression in the studied ovarian tumors not explained by [18F]FDG PET, location, grade, or mutational status.
    Journal • BRCA Biomarker • PARP Biomarker • FDG PET
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    13d
    Evaluation of Breast Cancer Gene Type 1 (BRCA1) Protein Levels in Cancer Tissue Using Surface-Enhanced Raman Spectroscopy. (PubMed, Appl Spectrosc)
    The BRCA1 protein levels of cells were determined from the regression curve of the BRCA1 protein. The relation between the concentration of BRCA1 protein and SERS spectrum intensity was determined to be logarithmic in the range of 300 µg·mL-1 to 292 ng·mL-1 (R2 = 0.9928, limit of detection = 10.41 µg·mL-1, and limit of quantitation = 31.24 µg·mL-1).
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset)