Missense alterations of BRCA1 gene detected in diverse cancer patients

The mutations in the breast cancer susceptible gene BRCA1 are responsible f or about 50% of inherited breast cancers and confer increased risk of breas t and ovarian cancer to ifs carriers. BRCA1 gene mutations may also be rela ted with other types of cancers such as prostate cancer and colorectal canc er. The goal of this study was to investigate if BRCA1 mutation could be de tected in diverse types of cancers. We used PCR-NIRCA and PCR-SSCP methods for screening the BRCA1 mutation hot regions, exons 2, 5, 11, 16 and 20. Th e positive samples were sequenced to confirm the nature of the mutations. W e have identified a rare sequence variant, A3537G (Ser 1140Gly) in a B cell lymphoma patient and two polymorphisms, A1186G (Gln356Arg) in a brain canc er patient and A3667G (Lys1183Arg) in a germline tumor patient. In conclusi on, 3 missense alterations of BRCA1 gene have been identified in cancers ot her than breast cancer.