Detection of BRCA1 2 gene mutation rate among women in Hilla Province

Abstract EN

Background : breast cancer is one of the leading causes of death among women.

One-fourth of women will be affected with cancer at some point in their lives.

Breast cancer is the most prevalent malignancy in women.

Mutations in breast cancer susceptibility genes BRCA1 and BRCA2 account for the majority of breast cancer cases.

BRCA1 and BRCA2 are tumor suppressor genes that repair and correct errors in DNA, act as sensors of DNA damage and participate in the DNA repair processes.

Aim : to illustrate the role of and analyzing the types and frequencies of the most common BRCA1, BRCA2 mutations in different groups of local Iraqi women.

Materials and methods : This is a case-control study design.

A total of forty women were chosen for the genetic study which was performed to detect BRCA1 and BRCA2 mutations, DNA was amplified by polymerase chain reaction (PCR), exon 2 and 20 of BRCA1 and exon 11 of BRCA2 genes, using a specific primer pairs and PCR conditions in four groups of Babylonian populations, including patients with breast cancer, healthy control people, first degree relatives, and patients with benign breast tumors.

Results : The overall frequency of BRCA genes mutation was more often detected among breast cancer patients than other groups in the study (P = 0.05).

Conclusions : There was a surprising high degree of BRCA gene mutation carriage rate, BRCA gene mutations were found to have a relatively high frequency (up to 75 %) among breast cancer patients in the study.