نتایج جستجو برای: ژن brca1
تعداد نتایج: 23914 فیلتر نتایج به سال:
سرطان پستان شایعترین سرطان در بین زنان ایرانی است. مطالعات مداوم ژنتیکی در خانواده های دچار سرطان پستان با تظاهر زود هنگام، منجر به کشف 2 ژن brca1 و brca2 شده است که استعداد ابتلا به این سرطان را افزایش می دهد. در بین بیماران دچار سرطان پستان، بیش از 5 تا 10 درصد موارد مستقیما با وراثت جهش های این دو ژن مرتبط هستند که منجر به ایجاد اکثر سرطان های پستان ارثی می شوند. تحقیقات گسترده بر روی snpهای...
The BRCA1 gene product plays numerous roles in regulating genome integrity. Its role in assembling supermolecular complexes in response to DNA damage has been extensively studied; however, much less is understood about its role as a transcriptional coregulator. Loss or mutation is associated with hereditary breast and ovarian cancers, whereas altered expression occurs frequently in sporadic for...
The breast- and ovarian-specific tumor suppressor BRCA1 has been implicated in numerous cellular processes, including transcription, ubiquitination, and DNA repair. Its tumor suppression activity is tightly linked to that of BARD1, a protein that heterodimerizes with BRCA1. It has been previously shown that BRCA1 binds to DNA, an interesting functional observation in light of the genetic data l...
Breast tumors from BRCA1 germ line mutation carriers typically exhibit features of the basal-like molecular subtype. However, the specific genes recurrently mutated as a consequence of BRCA1 dysfunction have not been fully elucidated. In this study, we used gene expression profiling to molecularly subtype 577 breast tumors, including 73 breast tumors from BRCA1/2 mutation carriers. Focusing on ...
PURPOSE The purpose of this study was to investigate the clinical features of epithelial ovarian cancer (EOC) patients according to BRCA1/2 mutation status (mutation, variant of uncertain significance [VUS], or wild type). MATERIALS AND METHODS We analyzed 116 patients whose BRCA1/2 genetic test results were available for mutation type and clinical features, including progression-free surviva...
Inherited mutations in BRCA1 confer susceptibility to breast and ovarian neoplasms. However, the function of BRCA1 and the role of BRCA1 in noninherited cancer remain unknown. Characterization of alternately spliced forms of BRCA1 may identify functional regions; thus, we constructed expression vectors of BRCA1 and a splice variant lacking exon 11, designated BRCA1 delta 672-4095. Immunofluores...
Triple negative (TN) breast cancers make up some 15% of all breast cancers. Approximately 10-15% are mutant for the tumor suppressor, BRCA1. BRCA1 is required for homologous recombination-mediated DNA repair and deficiency results in genomic instability. BRCA1-mutated tumors have a specific pattern of genomic copy number aberrations that can be used to classify tumors as BRCA1-like or non-BRCA1...
BACKGROUND Both BRCA1 and angiotensin II type 1 receptor (AGTR1) play a critical role in ovarian cancer progression. However, the crosstalk between BRCA1 and AGTR1 signaling pathways remains largely unknown. METHODS BRCA1 promoter methylation was analyzed by bisulfite sequence using primers focused on the core promoter region. Expression levels of BRCA1 and AGTR1 were assessed by immunohistoc...
The hypermetabolic nature of cancer cells and their increased reliance on "aerobic glycolysis", as originally described by Otto Warburg and colleagues, are considered metabolic hallmarks of cancer cells. BRCA1 is a major tumor suppressor in breast cancer and it was implicated in numerous pathways resulting in anticarcinogenic functions. The objective of our study was to address specific contrib...
BACKGROUND Both BRCA1 and epidermal growth factor receptor (EGFR) play a critical role in ovarian cancer progression. However, the crosstalk between BRCA1 and EGFR signaling pathways in ovarian cancer remains largely unknown. METHODS The effect of BRCA1 on EGFR was assessed in 146 serous ovarian cancer patients (28 pairs of BRCA1-mutated or not, 23 pairs of BRCA2-mutated or not, and 22 pairs ...
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