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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
Trial initiation date
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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
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abiraterone acetate • prednisone • saruparib (AZD5305)
1d
Enrollment closed • Trial 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
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Lynparza (olaparib) • Xtandi (enzalutamide) • abiraterone acetate • prednisone
1d
New trial
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
1d
ScrePan: Pancreatic Cancer Screening in a Population at High Risk (clinicaltrials.gov)
P=N/A, N=700, Recruiting, Masaryk Memorial Cancer Institute | Trial primary completion date: Dec 2025 --> Jun 2026
Trial primary completion date
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KRAS (KRAS proto-oncogene GTPase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSH2 (MutS Homolog 2)
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TP53 mutation • PALB2 mutation
2d
Eprenetapopt in combination with carboplatin in high-grade ovarian and triple negative breast cancer cell lines with acquired resistance to olaparib. (PubMed, Front Oncol)
Combining eprenetapopt with carboplatin shows promising preclinical efficacy by enhancing cytotoxicity in olaparib-resistant models and demonstrating synergistic interaction; these data support the combination as a potential strategy to mitigate PARPi resistance and carboplatin cross-resistance in TP53 mutant HGSOC and TNBC cell lines. Although further studies are needed to elucidate the molecular mechanisms underlying the synergistic effect, here we point out the combination of eprenetapopt and carboplatin as a potential therapeutic strategy to address olaparib resistance in HGSOC and TNBC patients.
Preclinical • Journal • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ANXA5 (Annexin A5)
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TP53 mutation • BRCA2 mutation • BRCA1 mutation • HRD • TP53 wild-type
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Lynparza (olaparib) • carboplatin • eprenetapopt (APR-246)
2d
Unique social, identity, and community factors impact prophylactic surgery discussions in young adults who are BRCA1, BRCA2, and PALB2 positive. (PubMed, J Genet Couns)
Participants desired more follow-up, better support and education around practical and emotional considerations for prophylactic surgery, and acknowledgment of personal and community factors that impacted them. Genetic counselors can personalize each visit to the patient and their needs by extensively contracting and bringing up topics that may be relevant and adjusting based on their preferences and values.
Journal
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2)
2d
Genetic mutations in salivary duct carcinoma. (PubMed, Otolaryngol Pol)
<br><br><b></b> This study delineated the mutational spectrum of recurrent and/or metastatic SDC. Even in advanced disease, prognostically relevant mutations were identified, emphasizing the clinical importance of cancer genomic profiling tests.
Journal • BRCA Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • CDK12 (Cyclin dependent kinase 12) • NOTCH3 (Notch Receptor 3)
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TP53 mutation
2d
(E)-Labda dial-Loaded Nanoparticles for Triple Negative Breast Cancer. (PubMed, Curr Drug Targets)
This work lays the basis for precision and personalised treatment for TNBC patients. However, future optimisation and clinical validation of these nanoparticles can be done in future to determine their translational potential for use in practice.
Journal • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • BARD1 (BRCA1 Associated RING Domain 1)
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TP53 mutation • BRCA1 mutation • PALB2 mutation
2d
The use of cell-free DNA (cfDNA)/circulating tumor DNA (ctDNA) to guide treatment selection in metastatic breast cancer. (PubMed, Pharmacogenomics)
Actionable genomic mutations such as PIK3CA, ESR1, ERBB2, BRCA1/2, and AKT/PTEN are reviewed in relation to their corresponding therapeutic agents. Implementation challenges, pre-analysis pitfalls, uncertain sampling cadence, cost barriers, and disparities in access are discussed, along with potential solutions.
Review • Journal • BRCA Biomarker • Circulating tumor DNA
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog)
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BRCA2 mutation • BRCA1 mutation • PIK3CA mutation • HER-2 mutation • PTEN mutation
5d
Circulating Alu Elements as Biomarkers for Radiation-Induced Toxicity in Cancer. (PubMed, Genet Test Mol Biomarkers)
In parallel, circulating cell-free DNA fragments containing Alu sequences have also been correlated with delivered radiation dose and clinical toxicity, underscoring their potential as minimally invasive biomarkers. Taken together, these findings position Alu activation as both a mechanistic driver of radio-response heterogeneity and a minimally invasive biomarker for biodosimetry and toxicity risk stratification.
Review • Journal • Tumor mutational burden • BRCA Biomarker
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TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability)
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TP53 mutation
5d
Synchronous Bilateral Breast Invasive Ductal Carcinoma With Osteoclast-Like Stromal Giant Cells in a 44-Year-Old Woman: A Case Report. (PubMed, Cureus)
This report highlights an extremely rare, pathologically confirmed case of synchronous bilateral primary breast carcinoma with OCGCs. The presence of OCGCs in both invasive and in situ components suggests that their formation can be induced at early stages of tumor development, likely reflecting a distinct immune-reactive tumor microenvironment driven by host-related factors.
Journal • BRCA 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) • CD68 (CD68 Molecule)
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HR positive • HER-2 negative
5d
Germline Variants in Bladder and Upper Tract Urothelial Cancers: Prevalence and Clinical Context in a Large Testing Registry. (PubMed, Eur Urol Open Sci)
However, many patients with these variants have urothelial cancer of the bladder only. Broader genetic testing, particularly in those with a suggestive personal or family cancer history, may help identify patients at risk who might otherwise be missed.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)