Molecular Analysis of Breast Cancer 1 (BRCA1) Gene Mutations (5382insc and 185delag) and its Detection in Libyan Women with Breast Cancer

Abstract

Breast cancer remains a common cancer-related mortality in females aged 20 to59 years worldwide and is estimated that more than one million women have been diagnosed every year BRCA1and BRCA2 are two important tumor suppressor genes. Breast cancer is associated with mutations in the coding exons in the BRCA1 gene like 185delAG and 5382insC mutations. Our aim of study is to identify new mutations in BRCA1 gene in Libyan population and may contribute to the knowledge on the risk factors of tumor suppressor gene mutations which allows Libyan clinicians to assess whether an individual patient is at high risk. A total of 77 Libyan females were genetically analyzed by simple and rapid detection of 185delAG and 5382insC mutations in BRCA1 gene by multiplex mutagenically separated by polymerase chain reaction (MS-PCR) in exons 2 and 20. Whereas is heterozygous alleles of germ line mutation in the BRCA1 gene is at high risk for the development of breast cancer. Blood samples were collected from 64 Libyan Women attending the breast clinic, Surgery Department, Central Hospital, Tripoli- Libya and 13 normal females were used. The blood samples were transported to DNA Laboratory in Biotechnology Research Center, Twesha, Libya. Of the Studied 6 patients had a family history of breast cancer, 26 don't have a family history of breast cancer, 4 had a family history of Benign Breast Disease, 4 don't have a family history of familial of Benign Breast Disease and 24 had a relative with breast cancer. The results of this study showed the presence of 185delAG mutation as high as 81.25% of the subjects and The5382insC mutation is absent in Arab Libyan women.The conclusion of this study is the detection of 185delAG mutation and the absence of 5382insC mutation in BRCA1 gene.