Analysis of 6174delT Mutation in BRCA2 Gene by Mutagenically Separated PCR Among Libyan Patients with Breast Cancer

Abstract

Background: Breast cancer is the most common malignancy among women. It is estimated that 1 in 10 women worldwide is affected by breast cancer during their lifetime. In 5 to 10% of breast cancer patients, the disease results from a hereditary predisposition, which can be attributable to mutations in either of two tumor suppressor genes, BRCA1 and BRCA2 to a large extent. BRCA2 6174delT mutation constitutes the common mutant alleles which predispose to hereditary breast cancer in the Ashkenazi population with a reported carrier frequency of 1.52%. In this study, we investigated the presence of the 6174delT mutation of the BRCA2 gene in Libyan woman affected with breast cancer and compared the results with those of other population groups. Methods: Eighty- five Libyan women with breast cancer in additions to 5 relatives of the patients (healthy individuals) were recruited to this study. We obtained clinical information, family history, and peripheral blood for DNA extraction and analyzed the data using multiplex mutagenic polymerase chain reaction (MS-PCR) for detection of 6174delT mutation in the BRCA2 gene. Results: The 6174delT of the BRCA2 gene was not detected either in the 85 patients with breast cancer (18 with familial breast cancer and 67 with sporadic breast cancer) nor in the 5 healthy individuals. Conclusions: The present study showed that the 6174delT of the BRCA2 gene was not detectable using mutagenic PCR in the Libyan patients with breast cancer and can be considered to be exceedingly rare

Keywords

• BRCA2 gene
• Breast cancer
• Polymorphisms
• 6174delT