title: Missense alterations of BRCA1 gene detected in diverse cancer patients.
abstract: The mutations in the breast cancer susceptible gene BRCA1 are responsible for about 50% of inherited breast cancers and confer increased risk of breast and ovarian cancer to its carriers. BRCA1 gene mutations may also be related with other types of cancers such as prostate cancer and colorectal cancer. The goal of this study was to investigate if BRCA1 mutation could be detected 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. The positive samples were sequenced to confirm the nature of the mutations. We have identified a rare sequence variant, A3537G (Ser 1140Gly) in a B cell lymphoma patient and two polymorphisms, A1186G (Gln356Arg) in a brain cancer patient and A3667G (Lys1183Arg) in a germline tumor patient. In conclusion, 3 missense alterations of BRCA1 gene have been identified in cancers other than breast cancer.
authors.affiliation: Department of Medicine, Charles R. Drew University of Medicine and Science, UCLA School of Medicine 90059, USA.
authors.forename: D
authors.initials: D
authors.lastname: Shen
authors.forename: Y
authors.initials: Y
authors.lastname: Wu
authors.forename: R
authors.initials: R
authors.lastname: Chillar
authors.forename: J V
authors.initials: JV
authors.lastname: Vadgama
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D019313:BRCA1 Protein / Q000235:genetics*; D001483:Base Sequence; D001932:Brain Neoplasms / Q000235:genetics; D005091:Exons; D005260:Female; D019398:Genes, BRCA1; D014644:Genetic Variation; D006801:Humans; D016393:Lymphoma, B-Cell / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009369:Neoplasms / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D019313:BRCA1 Protein