Detection Of BRCA1 Exon 11-B 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-B 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-B BRCA1 genewere studied.PCR and Direct sequencing methods were used for this study. There is a newNonsynonymous mutations was first identified mutations Thr 951 Arg, which in a sample wasobserved. BRCA1 gene as a tumor suppressor gene the large and important role in DNA repairthrough recombination Homologous, maintaining stability of chromosomes, DNA damagecheckpoint activation and cell cycle regulation. Therefore changes in the expression levels of BRCA1gene can lead to vulnerability breast cells to function as oncogenes. BRCA1 gene has 24 exons and aprotein with the same name during the 1863 amino acids. This gene is on the long arm ofchromosome 17, paragraph 21 (21q17) .gene BRCA1 ( Breast Cancer Susceptibility) was cloned in1996 by Miki et al. Screening for mutations in exon 22 encoder, the role of this gene in about 45% ofbreast cancers are hereditary and about 80 percent of eligible families both breast and ovariancancer revealed. Mutation in the BRCA1 gene in germ cells cause susceptibility to breast andovarian cancer . Mutations in this gene 5 to 10 percent of breast cancer cases and 20 to 40 percent ofbreast cancers are familial. This amount is equivalent risk about 85 to 60 percent in lifetime. Incarriers of mutations in the deadly BRCA1 up to the age of 40 to 20 percent risk of developing breastcancer and 17 percent risk of ovarian cancer. This risk increases with age rises so that by the age of80 for breast cancer risk 82 and for the risk of ovarian cancer by age 70 is 39 percent and up to 80years 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 8.6 percent. The resultsshowed that there is a new mutations in exon 11-B BRCA1 gene in Azeri women with breast cancer.