BRCA2 (Phospho-Ser3291) Antibody
- Known as:
- BRCA2 (Phospho-Ser3291) Antibody
- Catalog number:
- 11840
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Signalway
- Gene target:
- BRCA2 (Phospho-Ser3291) Antibody
Related genes to: BRCA2 (Phospho-Ser3291) Antibody
- Gene:
- BRCA2 NIH gene
- Name:
- BRCA2 DNA repair associated
- Previous symbol:
- FANCD1, FACD, FANCD
- Synonyms:
- FAD, FAD1, BRCC2, XRCC11
- Chromosome:
- 13q13.1
- Locus Type:
- gene with protein product
- Date approved:
- 1994-10-17
- Date modifiied:
- 2019-04-23
Related products to: BRCA2 (Phospho-Ser3291) Antibody
Related articles to: BRCA2 (Phospho-Ser3291) Antibody
- Women harboring pathogenic variant (PV) in the BRCA1 or BRCA2 genes (= BRCA) have an elevated lifetime risk for breast cancer (BC). One of the main options for active BC risk reduction is bilateral risk-reducing mastectomy (RRM). Understanding the factors influencing that decision is important for genetic-counselling and risk mitigation strategy planning. A structured questionnaire was circulated to BRCA carriers, members of the Good Genes NGO in Israel. Data on RRM uptake and timing, factors previously reported to be associated with decision to undergo RRM (e.g., psychosocial, family history, counselling/health-system factors) were obtained. Comparison between carriers who elected to undergo RRM with those who opted for early detection schemes were performed using logistic regression and chi square statistical analyses. Of cancer free women (n = 391), 272 (69.6%) elected to adhere to the recommended surveillance scheme and 119 (30.4%) elected to undergo RRM. The major reasons for electing RRM over surveillance were active BC risk reduction (4.96 ± 0.23), fear of developing BC (4.86 ± 0.50), and having at least one relative with BC diagnosed under age 45 years. Support group discussions emerged as a stronger determinant of RRM uptake than primary care physician or religious guidance. In conclusion, among healthy Israeli BRCA carriers the decision to undergo RRM was influenced by a complex interplay of factors-active BC risk reduction, fear of cancer diagnosis in the context of having one relative with early onset BC and support group discussions were the major drivers of RRM in Israeli BRCA1 carriers. - Source: PubMed
Publication date: 2026/05/13
Laitman YaelAharon KarinSchloss TaliaMargolin LibbyFriedman Eitan - Combination therapy with the PARP inhibitor niraparib and the androgen-receptor inhibitor abiraterone acetate plus prednisone (AAP) has recently shown improvement in radiographic progression-free survival (rPFS) in patients with metastatic castration-resistant prostate cancer (mCRPC) harboring homologous recombination repair (HRR) gene alterations, particularly BRCA1/2, in the phase III MAGNITUDE trial. Evidence outside clinical trials remains limited. - Source: PubMed
Publication date: 2026/04/27
Vascotto Ismaela AnnaCatalano MartinaVenturini JacopoCalandrelli ChiaraMancini SilviaPratesi LucaIzzi MartinaMela Marinella MicolRossi VirginiaFrancini EdoardoPillozzi SerenaAntonuzzo LorenzoRoviello Giandomenico - Wilms tumor (WT), the most common kidney neoplasm in children, is closely associated with hereditary factors. This study included 134 WT patients (62 males, median age of 7 years, age at diagnosis of 24.9 months) with unilateral ( = 90, 67%) or bilateral WT ( = 44, 33%). Genetic testing was performed using targeted sequencing of 415 genes and multiplex ligation-dependent probe amplification (MLPA). Twenty-five mutations in eight genes were found in 17% ( = 23) of patients: ( = 10), ( = 4), ( = 3), ( = 3), ( = 2), ( = 1), ( = 1), and ( = 1). Large deletions of the 11p13 region were revealed in 6% ( = 5) of patients. The 11p15 locus methylation was studied in blood, tumor, and healthy kidney tissue of nine patients suspected of Beckwith-Wiedemann syndrome (BWS) using methylation-sensitive MLPA (MS-MLPA). BWS was diagnosed in 3% ( = 4) of cases (one patient had mosaic disease). Thus, genetic and epigenetic aberrations were identified in 32 WT patients (24%). These patients had a higher frequency of bilateral WT and a higher rate of abnormalities compared to patients without aberrations (56% vs. 25%, = 0.002; and 86% vs. 25%, < 0.0001, respectively). The detection of WT hereditary predisposing factors is crucial for treatment strategies and long-term patient surveillance. - Source: PubMed
Publication date: 2026/05/01
Semenova VeraSagoyan GarikZhukovskaya ElenaKozlova ValentinaGegelia NinaMitrofanova AnnaSuleymanova AminaDruy AlexanderZelenova EkaterinaPavlov VladislavRubanskay MarinaKarelin AlexanderVarfolomeeva SvetlanaNasedkina Tatiana - Large genomic rearrangements (LGRs), occurring as copy number alterations (CNAs), represent a clinically relevant class of pathogenic or likely pathogenic variants (P LPVs) in () genes in ovarian cancer (OC). We evaluated the performance of a high-resolution algorithm integrated into a commercial homologous recombination deficiency (HRD) assay to improve the identification of clinically actionable CNAs in genes by formalin-fixed paraffin-embedded (FFPE) samples. A total of 760 OC samples were analyzed using a commercial HRD assay incorporating a bioinformatics algorithm for CNA detection. The algorithm was additionally applied to additional homologous recombination repair (HRR) genes, and associations between CNA events and genomic instability (GI) were evaluated. The algorithm demonstrated high sensitivity for both gene and exon-level CNA. The high correlation between CNA positivity cases and GI, in the absence of P/LPVs single-nucleotide or variants, emphasizes the value of integrating CNA detection into routine HRD testing workflows. The extended analysis of additional HRR genes enabled broader characterization of clinically relevant CNAs. This study enables reliable identification of clinically relevant LGRs from FFPE within HRD testing, supporting a tumor-first diagnostic strategy. This approach may expand the identification of OC patients potentially eligible for PARP inhibitor therapy. - Source: PubMed
Publication date: 2026/04/29
De Bonis MariaIapicca PierluigiDe Paolis ElisaBrisighelli FrancescaEvangelista JessicaPerrucci AlessiaRicciardi Tenore ClaudioManeri GiuliaConcolino PaolaPiermattei AlessiaMozzetta IolandaPasciuto TinaPreziosi AlessiaGiacò LucianoDuranti SimonaNero CamillaFagotti AnnaMinucci Angelo - : Most patients with hepatocellular carcinoma (HCC) present with advanced disease and have limited systemic treatment options. Oxaliplatin shows clinical activity in HCC but its effectiveness is frequently curtailed by intrinsic and acquired resistance. We sought to systematically identify genetic vulnerabilities that increase oxaliplatin sensitivity in HCC. : Genome-scale negative-selection CRISPR-Cas9 screens were conducted in two genetically distinct HCC cell lines (Hep3B and MHCC-97H) under low-dose oxaliplatin to discover conserved determinants of sensitivity. Selected DNA damage response (DDR) hits were validated. An oxaliplatin-resistant MHCC-97H subline was generated for transcriptomic profiling to characterize resistance-associated programs. Screen results were integrated with TCGA-LIHC expression and survival data to evaluate clinical relevance. Additionally, we analyzed bulk RNA-seq data from biopsy specimens collected from 36 HCC patients prior to initiation of hepatic arterial infusion chemotherapy (HAIC), comparing expression levels of the DDR genes between patients with objective response and non-responders. : Screens in both cell lines converged on DDR pathways, particularly nucleotide excision repair (NER) and the Fanconi anemia/interstrand crosslink repair network; shared sensitizers included (), and . Validation experiments showed that disruption of representative DDR factors ( and ) synergistically increased oxaliplatin efficacy at concentrations as low as 0.5 μM. Transcriptomic analysis of the resistant MHCC-97H subline revealed coordinated upregulation of DNA repair programs, G2/M checkpoint and E2F target signatures, and epithelial-mesenchymal transition features. Integration with TCGA-LIHC data demonstrated frequent overexpression of many screen-identified DDR genes in primary HCC and an association between higher expression of selected factors and poorer patient survival. In the HAIC cohort, several DDR genes, including , , , , , , , and , were significantly lower in the objective response group. : DDR components represent candidate biomarkers and therapeutic targets whose inhibition may enhance oxaliplatin efficacy in HCC. - Source: PubMed
Publication date: 2026/04/24
Ouyang HanyueHuang DiyunWen DongshengHuang LichangWu ZichaoLai ZhichengHe MinkeWu WenchaoShi Ming