English abstract
Breast cancer is considered to be a rare disease in men, because it accounts for no more than 1% of breast cancer. Among the genes that were studied and have been associated with breast cancer in men is the BRCA2 gene. More than 40% of men who suffer from breast cancer have utations in this gene. The objective of this study was to investigate the potential association of BRCA2 gene mutations with male breast cancer in four Omani cases. Exons 3,5,6,7,9,10,11,14,17,18,19,20,22,23,24,25,26,27 which account for 85% of the coding region of the gene were screened using direct sequencing. A total of five polymorphisms were detected, one in exon 10 (1114A>C, rs# 144848) two in exon 11 (6513G>C, rs# 206076 and 4563A>G, rs# 206075) and two in exon 14 (7397C>A, rs# .169547 and 7242A>G, rs# 1799955). All were in the coding region of the gene, three were synonymous (Val2171 Val , Leu1521Leu and Ser2414$er) while the last two were nonsynonymous (Asn372His and Val2466Ala). The polymorphism in exon 10 (1114A>C) showed a significant association (OR [HH:NN]=7.92; 95% CI, 0.76-82.74 ) with breast cancer in males, three out of four were HH. This finding might be used to screen for the mutation among familial breast cancer.
