The importance of BRCA1 and BRCA2 genes mutations in breast cancer development
Authors
Abstract:
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 important role in its prevention. Because this disease has a high prevalence in half of the global population, female screening of reported mutations in predisposing genes, which have been seen in breast cancer patients, seems necessary. In this review, a number of mutations in two predisposing genes (BRCA1 and BRCA2) that occurred in patients with a family history was investigated. We studied published articles about mutations in genes predisposed to breast cancer between 2000 and 2015. We then summarized and classified reported mutations in these two genes to recommend some exons which have a high potential to mutate. According to previous studies, exons have been reported as most mutated exons presented in this article. Considering the large size and high cost of screening all exons in these two genes in patients with a family history, especially in developing countries, the results of this review article can be beneficial and helpful in the selection of exon to screen for patients with this disease.
similar resources
the importance of brca1 and brca2 genes mutations in breast cancer development
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...
full textGenetic diagnosis of cancer: diagnosis of mutations in BRCA1 and BRCA2 in breast cancer
During the last two decays the tremendous success in molecular biology and genetics which has surprised the entire world. So that today the sequencing of whole genome has been possible for each human individual to estimate its being affected with cardiovascular and cancer diseases. However, these achievements have some important limitations and deep ethical issues which might be ignored. Geneti...
full textFounder mutations in BRCA1 and BRCA2 genes.
BRCA1 and BRCA2 germline mutations contribute to a significant number of familial and hereditary breast and/or ovarian cancers. The proportion of high-risk families with breast and/or ovarian cancer cases due to mutations in these tumor suppressor genes varies widely among populations. In some population, a wide spectrum of different mutations in both genes are present, whereas in other groups ...
full textA breast cancer family from Spain with germline mutations in both the BRCA1 and BRCA2 genes.
There are two major cancer susceptibility genes, BRCA1 and BRCA2, mutations in which predispose to early onset breast and ovarian cancer. 2 The frequency of BRCA1 and BRCA2 mutations in the general population ranges from 1-500 to 1-800. 3 In a recent population study, the authors showed that the estimated population frequencies for BRCA1 and BRCA2 mutations were similar under both recessive and...
full textPresymptomatic breast cancer in Egypt: role of BRCA1 and BRCA2 tumor suppressor genes mutations detection
BACKGROUND Breast cancer is one of the most common diseases affecting women. Inherited susceptibility genes, BRCA1 and BRCA2, are considered in breast, ovarian and other common cancers etiology. BRCA1 and BRCA2 genes have been identified that confer a high degree of breast cancer risk. OBJECTIVE Our study was performed to identify germline mutations in some exons of BRCA1 and BRCA2 genes for ...
full textMy Resources
Journal title
volume 30 issue 1
pages 484- 495
publication date 2016-01
By following a journal you will be notified via email when a new issue of this journal is published.
Hosted on Doprax cloud platform doprax.com
copyright © 2015-2023