Frequency of BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) mutations in Egyptian women with breast cancer compared to healthy controls

Abstract

BackgroundThe three founder mutations of BRCA1/2 (185delAG, 5382insC and 6174delT) have been reported to be associated with breast cancer. This work was designed to check for the frequency of these genetic mutations in Egyptian women affected with breast cancer compared to healthy first-degree relatives and unrelated controls. Subjects and methodsThis work is a case control study including 43 women diagnosed with breast cancer. Their genetic data were compared to controls including 63 first degree relatives in addition to 91 healthy unrelated controls from the same locality. DNA deletion or insertion mutations were characterized in blood samples of all participants using the PCR technique. ResultsThe frequency of BRCA1 (185delAG) mutation in BC patients and their first-degree relatives was higher than healthy controls (2.3% and 3.2% vs. 1.1%). However, the other two mutations BRCA1 (5382insC) and BRCA2 (6174delT) showed higher frequencies among healthy controls than BC patients and their first-degree relatives (49.5% vs. 11.6% and 6.3%; 61.5% vs. 11.6% and 14.3%, respectively). Furthermore, BC patients with BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) mutations showed no significant difference compared to others regarding their clinical and laboratory markers. ConclusionsThis study indicates that BRCA1 (185delAG) mutation might contribute to the incidence of breast cancer among Egyptian women, but not with BRCA1 (5382insC) and BRCA2 (6174delT) mutations. Furthermore, there was no significant association between these three founder mutations and the clinical presentation of BC among Egyptian women.