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BIOMARKER:

BRCA2 mutation

i
Other names: BRCA2, BRCC2, FACD, FAD, FAD1, FANCD, FANCD1, Breast cancer 2, early onset
Entrez ID:
Related tests:
3d
Pembrolizumab and olaparib in homologous-recombination-deficient metastatic pancreatic cancer: the phase 2 POLAR trial. (PubMed, Nat Med)
These data suggest that a subset of HRD PC may derive prolonged benefit from PARP-ICB maintenance and support further development of biomarker-guided precision immunotherapy strategies in PC. ClinicalTrials.gov identifier: NCT04666740 .
P2 data • Journal • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2)
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BRCA2 mutation • BRCA1 mutation • HRD • PALB2 mutation
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Keytruda (pembrolizumab) • Lynparza (olaparib)
3d
Niraparib in Patients With Pancreatic Cancer (clinicaltrials.gov)
P2, N=32, Completed, Dana-Farber Cancer Institute | Active, not recruiting --> Completed
Trial completion
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CHEK2 (Checkpoint kinase 2)
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BRCA2 mutation • BRCA1 mutation • ATM mutation • PALB2 mutation • CHEK2 mutation
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Zejula (niraparib)
4d
A lasso-based model combining miRNA and clinical variables predicts future risk of breast and ovarian cancer. (PubMed, Sci Rep)
When the model was used to predict future onset of ovarian cancer directly, the AUC offered was AUC = 0.75 (95% CI 0.70-0.78). Together, these data suggest the proposed model is a predictor of future ovarian cancer risk.
Clinical • 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
4d
Clinicopathological Characteristics of Lesions Diagnosed by MRI-Guided Biopsy in BRCA1/2 Mutation Carriers. (PubMed, Eur J Breast Health)
For new lesions categorized as breast imaging reporting and data system 3 on MRI, biopsy should be considered, particularly for BRCA1/2 carriers. Prospective studies are needed to validate these findings and assess long-term clinical outcomes to inform personalized management approaches for high-risk populations.
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
4d
Homologous Recombination Deficiency and Genomic Alterations in Advanced Prostate Cancer: Insights for Precision Therapy. (PubMed, Oncologist)
BRCA2-loss CAPC displays a distinct genomic landscape, marked by robust HRD features, suggesting the potential of higher sensitivity to PARPi. These findings highlight the relevance of HRDsig, and routinely use of CGP in refining patient selection for PARPi and guiding the design of future clinical trials.
Journal • Tumor mutational burden • BRCA Biomarker • MSi-H Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • HRD (Homologous Recombination Deficiency) • RB1 (RB Transcriptional Corepressor 1) • SPOP (Speckle Type BTB/POZ Protein) • RAD21 (RAD21 Cohesin Complex Component)
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PD-L1 expression • BRCA2 mutation • TMB-H • MSI-H/dMMR • HRD • BRCA wild-type
4d
BRCA2 Reversion Mutation after Neoadjuvant Dose-Dense EC and Dose-Dense Paclitaxel in Triple-Negative Breast Cancer: A Case Report and Literature Review. (PubMed, Surg Case Rep)
This case suggests that a BRCA2 reversion mutation can arise early, even before PARPi or platinum exposure. Serial monitoring of BRCA status may help predict therapeutic resistance in patients with germline BRCA-mutated breast cancer.
Journal • BRCA Biomarker • PARP Biomarker
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BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
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BRCA2 mutation • BRCA mutation
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paclitaxel • cyclophosphamide • epirubicin
9d
Comprehensive genomic analysis of non-BRCA familial breast cancer in an Arab population. (PubMed, NPJ Breast Cancer)
PRS assessment identified four PRSs with good discriminatory power (AUC > 0.690), with PGS003738 showing the highest performance (AUC = 0.702, top decile OR = 3.57). These findings highlight the need for population-specific genetic studies to improve breast cancer risk stratification in Arab populations.
Journal • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • PALB2 (Partner and localizer of BRCA2) • BRCA (Breast cancer early onset) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1)
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BRCA2 mutation • BRCA1 mutation
9d
Pulmonary Cryptococcosis Mimicking Lung Metastasis in a Patient with Pancreatic Cancer: A Case Report and Review of the Literature. (PubMed, Intern Med)
Postoperatively, fluconazole was administered without recurrence and systemic chemotherapy was resumed. Early histopathological confirmation is crucial to make an accurate diagnosis and select the appropriate management.
Journal • BRCA Biomarker
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BRCA2 (Breast cancer 2, early onset) • CA 19-9 (Cancer antigen 19-9)
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BRCA2 mutation
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5-fluorouracil • leucovorin calcium
9d
Genomic Profiling in Localized Prostate Cancer: Associations With Biochemical Recurrence and Response to Salvage Radiotherapy. (PubMed, Cancer Sci)
These findings suggest that somatic genomic alterations identified at prostatectomy are associated with early recurrence in localized PC. Further validation in independent cohorts is required to determine whether genomic profiling may contribute to future risk stratification and management strategies.
Journal • BRCA Biomarker
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BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • POLD1 (DNA Polymerase Delta 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase)
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BRCA2 mutation
9d
Genomic Features and Response to Poly(ADP-ribose) Polymerase Inhibition in Metastatic Castration-Resistant Prostate Cancer. (PubMed, JCO Precis Oncol)
Most PARPi responders had alterations in HRR genes, particularly BRCA2, although some responders lacked known biomarkers associated with PARPi response. Our findings in this real-world data set support HRR gene testing for PARPi use in mCRPC and highlight the need for novel genome-wide biomarkers for patient selection.
Observational data • Retrospective data • Journal • BRCA Biomarker • PARP Biomarker
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BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • BARD1 (BRCA1 Associated RING Domain 1)
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BRCA2 mutation • BRCA mutation
9d
Treatment patterns and safety of adjuvant therapy after chemoimmunotherapy for early-stage triple-negative breast cancer: real-world data from the Neo-Real/GBECAM 0123 study. (PubMed, Breast Cancer Res Treat)
Most patients with pCR continued adjuvant pembrolizumab, while combination strategies predominated among those with residual disease and were associated with higher rates of grade ≥ 3 AEs. The efficacy of these combined regimens remains to be determined.
Journal • Real-world evidence • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO 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
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Keytruda (pembrolizumab) • Lynparza (olaparib) • capecitabine
9d
Austrian treatment algorithms 2025: CDK 4/6 inhibitors in the adjuvant therapy of HR+/HER2- early breast cancer. (PubMed, Wien Klin Wochenschr)
Abemaciclib (monarchE) has demonstrated sustained improvements in invasive disease-free survival (IDFS), distant relapse-free survival (DRFS), and a statistically significant overall survival (OS) benefit at 7 years. Ribociclib (NATALEE) demonstrated statistically significant IDFS improvement across a broader clinical risk spectrum, including selected node-negative disease.However, these advances must be considered in the context of distinct toxicity, treatment burden, and substantial additional healthcare system costs. Although emerging evidence supports treatment intensification with CDK4/6 inhibitors in certain settings, uncertainty persists regarding which patient subgroups derive sufficient benefit to justify routine use from both a clinical and health-economic perspective.Further clarification is expected from ongoing randomized studies and real-world evidence, as this paper aims to provide a structured, evidence-based overview of the current standard of knowledge and to support Austrian breast cancer specialists in navigating treatment decisions regarding adjuvant CDK4/6 inhibitor use.
Review • Journal • BRCA Biomarker • PARP Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • 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 • HR positive • HER-2 negative • BRCA mutation
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Verzenio (abemaciclib) • Kisqali (ribociclib)