Minor role of BRCA2 mutation (Exon2 and Exon11) in patients with early-onset breast cancer amongst Iranian Azeri-Turkish women
نویسندگان
چکیده
OBJECTIVE(S) Breast cancer is the most common cancer in women. Every year, one million new cases are reported worldwide, representing 18% of the total number of cancer in women. Hereditary BRCA1 and BRCA2 mutations account for about 60% of inherited breast cancer and are the only known causes of hereditary breast cancer syndrome. The aim of this study was to determine the frequency of BRCA2 (exon2 and exon11) gene mutation in patients with early-onset breast cancer among Iranian Azeri-Turkish women. MATERIALS AND METHODS We obtained clinical information, family history and peripheral blood from 110 women under the age of 45 with early-onset breast cancer for scanning germline mutations in the exon2 and 11 of BRCA2 genes which comprises over 50% of the gene. Single-strand conformation polymorphism assay was used in order for screening potential mutations on amplified regions followed by direct sequencing analysis to determine the genotypes. RESULTS Overall, 11 sequence variants were identified in this study group, including four homozygotes and seven heterozygotes silent substitution of c.3807T to C, p.Val1269Val (rs543304). CONCLUSION Mutations in BRCA2 were surprisingly infrequent in the early onset breast cancer patients among Iranian Azeri-Turkish women.
منابع مشابه
Minor role of BRCA2 mutation (Exon2 and Exon11) in patients with early-onset breast cancer amongst Iranian Azeri-Turkish women
Objective(s): Breast cancer is the most common cancer in women. Every year, one million new cases are reported worldwide, representing 18% of the total number of cancer in women. Hereditary BRCA1 and BRCA2 mutations account for about 60% of inherited breast cancer and are the only known causes of hereditary breast cancer syndrome. The aim of this study was to determine the frequency of BRCA2 (e...
متن کاملبررسی موتاسیون های شایع ژن BRCA1 و BRCA2 در دختران مادران مبتلا به سرطان سینه و مقایسه آن با گروه کنترل
Background and purpose: Breast Cancer is one of the health problems in every population. The aim of this study was to determine the frequency of BRCA1 and BRCA2 common mutations in women whose mothers were diagnosed with breast cancer. Materials and methods: A case–control study was performed in 109 females (less than 40 years of age) who had mothers with breast cancer. For scanning of...
متن کاملجهش های ژنتیکی جدید در ژن های اصلی سرطان پستان (BRCA1/BRCA2) در زنان ایرانی مبتلا به سرطان پستان زودرس
Background: Breast cancer is the most common female malignancy and the main cause of death in mid-aged women. Genetic germ line mutations in BRCAI/BRCA2 in Iranian women with breast or ovarian cancer have not been yet reported. Materials and methods: Clinical data, family history and blood samples were obtained from 83 females aged less than 45 years with primary breast cancer in order to su...
متن کاملMutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer
Male breast cancer is a rare disease with an increasing trend. Due to limited information especially about the genetic basis of the disease in Iran and the lower age of its onset, the disease requires more attention. The aim of this study was to screen the male patients with breast cancer for BRCA mutations as well as tissue markers of estrogen receptor (ER), progesterone receptor (PR), human e...
متن کاملThe importance of BRCA1 and BRCA2 genes mutations in breast cancer development
Many factors including genetic, environmental, and acquired are involved in breast cancer development across various societies. Among all of these factors in families with a history of breast cancer throughout several generations, genetics, like predisposing genes to develop this disease, should be considered more. Early detection of mutation carriers in these genes, in turn, can play an import...
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عنوان ژورنال:
دوره 17 شماره
صفحات -
تاریخ انتشار 2014