Minor role for BRCA2 (exon 2 and exon11) among patients with earlyonset breast cancer in Northwest of Iran

Breast cancer is the most common cancer in women. Every year, one millionnew cases are reported worldwide, representing 18% of the total number ofcancer in women. Hereditary BRCA1 and BRCA2 mutations account for about60% of inherited breast cancer and are the only known causes of hereditarybreast cancer syndrome. The aim of this study was to determine the BRCA2gene mutation frequency in patients with early-onset breast cancer in Northwestof Iran. We obtained clinical information, family history and peripheral bloodfrom 110 women under the age of 45 with early-onset breast cancer forscanning of germline mutations in the Exon 2 and 11 of BRCA2 genes whichcomprises over 50% of the gene. Single-strand conformation polymorphismassay was used to screen potential mutations on amplified regions followed bydirect sequencing analysis to determine of genotypes. In total, 11 sequencevariants were identified in this study group, including four homozygotes andseven heterozygotes silent substitution of c.3807T to C, p.Val1269Val(rs543304). Surprisingly, mutations in BRCA2 are infrequent in early onsetbreast cancer patients in North West of Iran.

Keywords:

BRCA2 , mutation detection , breast cancer , SSCP , Sequencing , Iranian population