Women carrying a germ-line mutation in the BRCA1 or BRCA2 genes have a high risk of developing breast cancer, and loss of the wild-type allele in tumors suggests that these genes function as tumor suppressor genes. The BRCA2 gene encodes a 3418-amino acid protein with no significant sequence similarity to any known protein. To begin to elucidate the cellular role of BRCA2, we have raised antibodies to the BRCA2 protein and used these to study its subcellular localization and expression. We show that BRCA2 is a nuclear protein expressed in response to cell proliferation and that BRCA2 expression is initiated before DNA synthesis.
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BMC Cancer
January 2025
Medical and Translational Oncology, Department of Oncology, Azienda Ospedaliera Santa Maria, Viale Tristano Di Joannuccio 1, Terni, 05100, Italy.
Prostate cancer (PCa) ranks among the most prevalent malignancies in men, with notable associations to Hereditary Breast and Ovarian Cancer Syndrome (HBOC) and Lynch Syndrome, both linked to germline likely pathogenetic variant/pathogenetic variant (LPV/PV) in genes involved in DNA repair. Among these genes, BRCA2 in PCa patients is the most frequently altered. Despite progresses, challenges in BRCA carriers detection persist, with a quarter of PCa cases lacking family history.
View Article and Find Full Text PDFClin Proteomics
January 2025
Division of Breast Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, 112, Taiwan.
Integrating functional proteomics and next-generation sequencing (NGS) offers a comprehensive approach to unraveling the molecular intricacies of breast cancer. This study investigates the functional interplay between genomic alterations and protein expression in Taiwanese breast cancer patients. By analyzing 61 breast cancer samples using tandem mass tag (TMT) labeling and mass spectrometry, coupled with whole-exome sequencing (WES) or targeted sequencing, we identified key genetic mutations and their impact on protein expression.
View Article and Find Full Text PDFCardiooncology
January 2025
Department of Oncology-Pathology, Karolinska Institutet, Stockholm, SE-171 77, Sweden.
Background: Breast cancer (BC) and cardiovascular disease (CVD) are prevalent comorbidities in aging populations. Advances in BC treatment have improved survival rates but increased the risk of CVD, particularly among younger patients with BRCA1/2 mutations. BRCA1/2 gene mutations, prevalent in younger BC patients, impair cardioprotective effects, elevating CVD risk alongside cancer treatments.
View Article and Find Full Text PDFBMC Bioinformatics
January 2025
Department of Applied Computer Science, University of Winnipeg, Winnipeg, MB, R3B 2E9, Canada.
Background: Comprehensively mapping the hierarchical structure of breast cancer protein communities and identifying potential biomarkers from them is a promising way for breast cancer research. Existing approaches are subjective and fail to take information from protein sequences into consideration. Deep learning can automatically learn features from protein sequences and protein-protein interactions for hierarchical clustering.
View Article and Find Full Text PDFJ Pak Med Assoc
January 2025
Department of Pathology, Islamic International Medical College, Rawalpindi, Pakistan.
Objectives: To determine the frequency of genetic variants in breast cancer types 1 and 2 gene in breast cancer Pakistani patients.
Methods: The case-control study was conducted at the Islamic International Medical College and Pakistan Railway Hospital, Rawalpindi, Pakistan, from October 2022 to August 2023, and comprised females with breast cancer in group A, with an age range of 23-83 years (mean 51.9 ± 10.
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