background: th e second leading cause of cancer deaths in women is breast cancer. germline mutations in susceptibility breast cancer gene brca1 increase the lifetime risk of breast cancer. eighty-one large genomic rearrangements (lgrs) have been reported up to date in brca1 gene, and evaluation of these rearrangements helps with precise risk assessment in high-risk individuals. in this study, w...

background: tumour suppressor genes such as tp53, brca1 and rad51 are involved in dna repair and their malfunctions result in genomic instability and cancer. wild type (wt) tp53 binds to brca1and rad51 in vivo and in vitro. however, mutated tp53 in tumours can interfere with wt tp53 function. we studied how mutation of tp53 in mda-mb-468 cell line could affect its binding capacity and interfere...

Mutations in the BRCA1 gene are known to be a major cause of hereditary breast cancer. However, characterizing the point mutationsassociated with cancer in BRCA1 is challenging because the functional impact of most of them is still unknown. Nowadays, a variety of methods are employed to identify cancer-associated mutations in BRCA1. This study is aimed to ass...

Mutations in the BRCA1 and BRCA2 genes are known risk factors drivers of breast ovarian cancers. So far, few studies have been focused on understanding differences transcriptome functional landscapes associated with disease (breast vs. cancers), gene (BRCA1 BRCA2), mutation type (germline somatic). In this study, we were aimed at systemic evaluation association germline somatic mutations expres...

many factors including genetic, environmental, and acquired are involved in breast cancer development across various societies. among all of these factors in families with a history of breast cancer throughout several generations, genetics, like predisposing genes to develop this disease, should be considered more. early detection of mutation carriers in these genes, in turn, can play an import...

BACKGROUND BRCA1 expression can be lost by a variety of mechanisms including germline or somatic mutation and promotor hypermethylation. Given the potential importance of BRCA1 loss as a predictive and prognostic biomarker in high-grade serous ovarian cancer, we sought to evaluate the utility of BRCA1 immunohistochemistry (IHC) in screening for BRCA1 loss by germline, somatic, and epigenetic me...

Breast cancer 1 (BRCA1) and insulin-like growth factor 1 receptor (IGF1R) are critical in ovarian cancer progression. However, the crosstalk between the BRCA1 and IGF1R signaling pathways in ovarian cancer remains largely unknown. The effects of BRCA1 on IGF1R were assessed in 121 serous ovarian cancer patients (BRCA1 mutation, n=30; non-BRCA1 mutation, n=32; hypermethylated BRCA1 promoter, n=2...