Detection Of BRCA1 Exon 11-A Mutations Among Breast Cancer Patients In Azerbaijan

Breast cancer is the most common cancer in women world-wide one-third of cancers in women areincluded. Our multi-year study on patients with this cancer represents the lower age for breastcancer patients undergoing surgery in the region. This cancer is the second leading cancer killeramong women, after lung cancer. The results of a study on breast cancer cases in Iran suggests thatbreast cancer patients in Iran are relatively younger than their Western counterparts. More than 15percent of healthy women with at least one first-degree relative with breast cancer; experience hasshown that the risk of breast cancer in these individuals is doubled. 20 to 30 percent of breastcancer patients have a family history of this cancer. Proposed for breast cancer genes important asgenetic factors include genes with high penetrance follows: BRCA1, BRCA2, P53, PTEN, STK11 /LKB1, CDH1. While others, such as ATM, CHECK2, PALB2, BRIP1 that genetic factors are consideredaverage. BRCA1 gene are discussed in this article. The aim of this study was to evaluate mutationsin exons 11-A gene BRCA1 in Azerbaijani women with breast cancer. The study also identifiedpossible genetic problem a number of families of patients, the first data about databases this gene inthe northwestern area of the country s population will bring. In this study of 30 cancer patientsduring surgery to lower the age of forty years and get blood samples and exons 11-A BRCA1 genewere studied. PCR and Direct sequencing methods were used for this study. There are twosynonymous mutations that is new identification were reported for the first time: 2 mutation of Ser589 Thr in the two samples was observed. BRCA1 gene as a tumor suppressor gene the large andimportant role in DNA repair through recombination Homologous, maintaining stability ofchromosomes, DNA damage checkpoint activation and cell cycle regulation. Therefore changes inthe expression levels of BRCA1 gene can lead to vulnerability breast cells to function as oncogenes.BRCA1 gene has 24 exons and a protein with the same name during the 1863 amino acids. This geneis on the long arm of chromosome 17, paragraph 21 (21q17) .gene BRCA1 ( Breast CancerSusceptibility) was cloned in 1996 by Miki et al. Screening for mutations in exon 22 encoder, the roleof this gene in about 45% of breast cancers are hereditary and about 80 percent of eligible familiesboth breast and ovarian cancer revealed. Mutation in the BRCA1 gene in germ cells causesusceptibility to breast and ovarian cancer . Mutations in this gene 5 to 10 percent of breast cancercases and 20 to 40 percent of breast cancers are familial. This amount is equivalent risk about 85 to60 percent in lifetime. In carriers of mutations in the deadly BRCA1 up to the age of 40 to 20 percentrisk of developing breast cancer and 17 percent risk of ovarian cancer. This risk increases with agerises so that by the age of 80 for breast cancer risk 82 and for the risk of ovarian cancer by age 70 is39 percent and up to 80 years of age is 54%. Reports from around the world shows that the incidence of BRCA1 mutations from 1/8 to 13/1 and the Asian countries the rate from 0.8 percent to 8.6percent. In these study, the results showed that there are two new mutations in exon 11-A BRCA1gene in Azeri women with breast cancer.