Author/Authors :
Mehrgou, Amir Department of Medical Genetics and Molecular Biology - School of Medicine - Iran University of Medical Sciences, Tehran, Iran , Akouchekian, Mansoureh Department of Medical Genetics and Molecular Biology - School of Medicine - Iran University of Medical Sciences, Tehran, Iran
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.
Keywords :
Breast cancer , Mutations , BRCA2 gene , BRCA1 gene