The breast cancer susceptibility gene BRCA1 encodes a nuclear protein, which functions as a tumor suppressor and is involved in gene transcription and DNA repair processes. Many families with inherited breast and ovarian cancers have mutations in the BRCA1 gene. However, only a few studies have reported on the mechanism underlying the regulation of BRCA1 expression in humans. In this study, we ...

This study aimed to characterize women at-risk for hereditary BC regarding their clinical and molecular characteristics (mutation and methylation in the BRCA1 gene) and correlate the gene expression levels with histopathological, clinical and family history information. BRCA1 real time qPCR was performed to evaluate methylation status and gene expression. The study included 88 women grouped acc...

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...

2. THE BREAST CANCER SUSCEPTIBILITY GENE 1 (BRCA1) ………………………….. 10 2.1 The BRCA1 gene is large with two distinct promoters 2.2 The BRCA1 protein is nuclear and has several functional domains 2.3 BRCA1 expression 2.4 Pathological variants of the BRCA1 gene 2.4.1 There is a wide spectrum of BRCA1 germline mutations 2.4.2 Germline mutations are found at a high frequency in families with multiple a...

background: breast cancer is the most common malignancy in women. breast cancer type 1 susceptibility gene (brca1) is a tumor suppressor gene, involved in dna damage repair and in 81% of the breast-ovarian cancer families were due to brca1. in some clinically investigated genes, the intragenic marker polymorphism is important and the screening of such mutations is faster by using short tandem r...

Introduction: Mutations in the BRCA1 gene are major risk factors for breast and ovarian cancers. However, the relationship between some BRCA1 mutations and cancer risk remains largely unknown. Cancer risk predictions could be improved by evaluation of the impairment degree in the BRCA1 functions due to a specific mutation. This study aimed to assess the functional effect of a novel variant (Glu...

 Abstract Background: Many disease susceptibility genes are large and consist of many exons in which point mutations are scattered throughout. Scanning each exon individually represents a tedious task which can be time consuming and expensive. There has been increasing demand for rapid and accurate methods for full scanning of unknown point mutations in large multi-exon genes. Gene Assembling i...

The breast cancer susceptibility gene 1 (BRCA1) has been shown to maintain genomic stability through multiple functions in the regulation of DNA damage repair and transcription. Its translated BRCT (BRCA1 C-terminal domain) acts as a strong transcriptional activator. BRCA1 damaged by carboplatin treatment may lead to a loss of such functions. To address the possibility of the BRCA1 gene as a th...

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...