^
    Contact us  to learn more about
    our Premium Content:  News alerts, weekly reports and conference planners
    GENE:

    BRCA2 (Breast cancer 2, early onset)

    i
    Other names: BRCA2, BRCC2, FACD, FAD, FAD1, FANCD, FANCD1, Breast cancer 2, early onset
    23h
    High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia. (PubMed, Int J Mol Sci)
    The BLM, NBN, and MUTYH genes did not demonstrate associations with BC risk. Finding deleterious mutations in BC patients is important for diagnosis and management; in controls, it opens up the possibility of prevention and early diagnostics.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • MUTYH (MutY homolog) • XRCC2 (X-Ray Repair Cross Complementing 2)
    |
    PALB2 mutation • RAD51C mutation • RAD50 mutation • BARD1 mutation • BLM mutation • NBN mutation
    23h
    Exploring Aerobic Energy Metabolism in Breast Cancer: A Mutational Profile of Glycolysis and Oxidative Phosphorylation. (PubMed, Int J Mol Sci)
    These mutations are rs267606829 (FOXRED1), COSV53860306 (HK1), rs201634181 (NDUFS1), rs774052186 (DONSON), rs119103242 (PC), rs1436643226 (PC), and rs104894677 (ETFB). They could be further investigated as potential biomarkers for diagnosis, prognosis, and treatment of BC patients.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • NDUFS1 (NADH:Ubiquinone Oxidoreductase Core Subunit S1) • PGK1 (Phosphoglycerate Kinase 1)
    23h
    Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background. (PubMed, Int J Mol Sci)
    Further immunohistochemistry analysis of breast tumour tissues helped clarify the causative role of these variants. Comprehensive clinical and molecular genetic evaluation is beneficial for the diagnosis and management of patients with P/LP variants in hereditary tumour-predisposing genes and can serve as a basis for effective therapy selection, such as PARP inhibitors or immunotherapy.
    Retrospective data • Journal • BRCA Biomarker • PARP Biomarker • IO biomarker
    |
    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) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
    1d
    Long-Term Breast Cancer Risk in Hodgkin Lymphoma Survivors: Evaluating Background Parenchymal Enhancement and Radiotherapy-Induced Toxicity. (PubMed, Cancers (Basel))
    The study highlights the long-term risk of BC in HL survivors and suggests that advanced RT techniques and targeted therapies may help reduce the incidence of secondary tumors. Future research should focus on understanding the genetic and biological mechanisms behind treatment-induced cancers.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    |
    BRCA2 mutation • BRCA1 mutation • BRCA1 mutation + BRCA2 mutation
    1d
    The Tumour Microenvironment and Epigenetic Regulation in BRCA1 Pathogenic Variant-Associated Breast Cancers. (PubMed, Cancers (Basel))
    While LSD-1 itself does not directly cause mutations in BRCA1 or BRCA2 genes, its epigenetic influence sheds light on the potential role of LSD-1 inhibitors as a therapeutic approach in managing breast cancer, particularly in individuals with BRCA1/2 PVs. Targeting LSD-1 may help counteract its detrimental effects and provide a promising avenue for therapy in this specific subgroup of breast cancer.
    Review • Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    |
    BRCA2 mutation • BRCA1 mutation • BRCA1 expression
    1d
    Positive Selection Shapes Breast Cancer Tumor Suppressor Genes: Unveiling Insights into BRCA1, BRCA2, and MDC1 Stability. (PubMed, J Mol Evol)
    Our findings could be inspirational to foster future recommendations for drug-targeting sites and further illuminate the function of these proteins. Finally, the code developed in our study is delivered in the Automated tool for positive selection (ATPs) ( https://github.com/APS-P/Automated-Tool-for-Positive-Selection-ATPS-/wiki ) to assist the easy reproducibility and support future evolutionary genomics analyses.
    Journal
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, 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
    The oncogenic lncRNA MIR503HG suppresses cellular senescence counteracting supraphysiological androgen treatment in prostate cancer. (PubMed, J Exp Clin Cancer Res)
    The lncRNA MIR503HG acts as an oncogenic regulator in PCa by repressing cellular senescence. SAL-induced suppression of MIR503HG enhances the tumor-suppressive effects of AR signaling, suggesting that MIR503HG could serve as a biomarker for BAT responsiveness and as a target for combination therapies with PARP inhibitors.
    Journal • BRCA Biomarker • PARP Biomarker
    |
    BRCA2 (Breast cancer 2, early onset) • MIR424 (MicroRNA 424) • MIR503 (MicroRNA 503)
    |
    miR-503 expression
    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
    Aggressive renal cell carcinoma with somatic BRCA2 mutation-an emerging entity? A case report with literature review. (PubMed, Virchows Arch)
    This unusual co-expression of the commonly used IHC stains during the workup of RCC could serve as a potential diagnostic pitfall. Although very rare, it is important for pathologists to be aware of this form of RCC due to its aggressive clinical behavior, possibility of a germline mutation, and current therapeutic options for tumors with BRCA2 mutation.
    Review • Journal • BRCA Biomarker
    |
    BRCA2 (Breast cancer 2, early onset) • CA9 (Carbonic anhydrase 9) • MME (Membrane Metalloendopeptidase) • PAX8 (Paired box 8)
    |
    BRCA2 mutation • CA9 expression
    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
    |
    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
    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
    Next-Generation Sequencing-Guided Treatment of BRCA2-Mutant Metastatic Uterine Leiomyosarcoma With Poly(ADP-ribose) Polymerase Inhibitor Therapy. (PubMed, JCO Precis Oncol)
    No abstract available
    Journal • Next-generation sequencing • BRCA Biomarker • Metastases
    |
    BRCA2 (Breast cancer 2, early onset)
    |
    BRCA2 mutation
    6d
    Prevalence and Distribution of Unexpected Actionable Germline Pathogenic Variants Identified on Broad-Based Multigene Panel Testing Among Patients With Cancer. (PubMed, JCO Precis Oncol)
    In patients with cancer, MGPT identified a rate of 1.7% PV in unexpected actionable cancer predisposition genes. Findings were more often unexpected (2.8%) when considering only the patient cancer history. These findings may justify consideration of broader MGPT panels in patients with cancer, given implications for subsequent surveillance, cascade testing, and treatment options dependent on specific findings.
    Retrospective data • Journal • BRCA Biomarker
    |
    TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MSH6 (MutS homolog 6) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • MITF (Melanocyte Inducing Transcription Factor) • SDHC (Succinate Dehydrogenase Complex Subunit C) • HOXB13 (Homeobox B13) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)
    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
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    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
    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
    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)
    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
    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
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)
    |
    BRCA2 mutation • BRCA1 mutation
    |
    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
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    13d
    Targeted and cytotoxic inhibitors used in the treatment of breast cancer. (PubMed, Pharmacol Res)
    Hormonal or endocrine therapy includes selective estrogen receptor modulators (SERMs) such as raloxifene, tamoxifen and toremifene, selective estrogen-receptor degraders (SERDs) including elacestrant and fulvestrant, and aromatase inhibitors such as anastrozole, letrozole, and exemestane...These agents include taxanes (docetaxel, nab-paclitaxel, and paclitaxel), anthracyclines (doxorubicin, epirubicin), anti-metabolites (capecitabine, gemcitabine, fluorouracil, methotrexate), alkylating agents (carboplatin, cisplatin, and cyclophosphamide), and drugs that target microtubules (eribulin, ixabepilone, ado-trastuzumab emtansine). Patients with ER-positive tumors are treated with 5-10 years of endocrine therapy and chemotherapy. For patients with metastatic breast cancer, standard first-line and follow-up therapy options include targeted approaches such as CDK4/6 inhibitors, PI3K inhibitors, PARP inhibitors, and anti-PDL1 immunotherapy, depending on the tumor type and molecular profile.
    Review • Journal • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • 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)
    |
    HER-2 positive • ER positive • HR positive • HER-2 negative • HR positive + HER-2 negative • HER-2 negative + ER positive • HER-2 negative + HR negative • HER-2 positive + HR negative
    |
    cisplatin • carboplatin • gemcitabine • docetaxel • 5-fluorouracil • tamoxifen • Kadcyla (ado-trastuzumab emtansine) • doxorubicin hydrochloride • capecitabine • albumin-bound paclitaxel • cyclophosphamide • fulvestrant • Halaven (eribulin mesylate) • methotrexate • letrozole • epirubicin • anastrozole • exemestane • Orserdu (elacestrant) • Ixempra (ixabepilone) • raloxifene hydrochloride
    13d
    TUBA: Early Salpingectomy (Tubectomy) With Delayed Oophorectomy in BRCA1/2 Gene Mutation Carriers (clinicaltrials.gov)
    P=N/A, N=510, Active, not recruiting, University Medical Center Nijmegen | Trial primary completion date: Jan 2025 --> Jan 2030
    Trial primary completion date • HEOR
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    |
    BRCA2 mutation • BRCA1 mutation
    13d
    Systematic identification of pathogenic variants of non-small cell lung cancer in the promoters of DNA-damage repair genes. (PubMed, EBioMedicine)
    Our findings indicate that functional promoter variants in DDR genes, in addition to protein-truncating variants, can be pathogenic and contribute to lung cancer susceptibility.
    Journal
    |
    BRCA2 (Breast cancer 2, early onset) • RAD51B (RAD51 Paralog B) • DDB2 (Damage Specific DNA Binding Protein 2) • ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit) • ALKBH2 (AlkB Homolog 2) • APEX1 (Apurinic/Apyrimidinic Endodeoxyribonuclease 1)
    14d
    New Therapeutic Options for BRCA Mutant Patients. (PubMed, Annu Rev Med)
    An understanding of the biology of BRCA1 and BRCA2 led to the development of targeted therapeutics, specifically poly(ADP-ribose) polymerase (PARP) inhibitors, which are approved by the US Food and Drug Administration for multiple BRCA1/2-associated cancers. Here, we discuss the development of PARP inhibitors, mechanisms of resistance, and the potential utility of these drugs beyond canonical BRCA1/2 tumors, and we describe novel agents under study.
    Review • Journal • BRCA Biomarker • PARP Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
    |
    BRCA mutation
    14d
    TOMAS2: Randomized Trial in Advanced, Metastatic or Unresectable Soft Tissue Sarcoma After Failure of Standard Treatments. (clinicaltrials.gov)
    P2, N=130, Completed, Italian Sarcoma Group | Active, not recruiting --> Completed
    Trial completion • Metastases
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
    |
    Lynparza (olaparib) • Yondelis (trabectedin)
    15d
    Fuzuloparib Arsenic Trioxide Platinum Resistance Relapsed Ovarian Cancer (clinicaltrials.gov)
    P1/2, N=50, Recruiting, Xing Xie | Trial primary completion date: Jan 2024 --> Dec 2024
    Trial primary completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MUC16 (Mucin 16, Cell Surface Associated)
    |
    BRCA2 mutation • BRCA1 mutation • MUC16 elevation
    |
    AiRuiYi (fluzoparib) • arsenic trioxide
    15d
    A scoping review of parents' disclosure of BRCA1/2 genetic alteration test results to underage children. (PubMed, Patient Educ Couns)
    These findings equip healthcare professionals in their efforts to develop and test interventions which support the communication of genetic risk information. Furthermore, it is evident there is a need for more research to understand how the disclosure process occurs in the families.
    Review • Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    |
    BRCA2 mutation • BRCA1 mutation