title: [Novel BRCA1 gene mutations in breast cancer patients from St. Petersburg].
abstract: Screening of patients with familial breast cancer from St. Petersburg for BRCA1 gene mutations resulted in identification of three mutations (414del3, 276delA, and A622V) and two polymorphisms (P871L and S1436S). Mutations 4146del3 and 276delA are novel, never previously described elsewhere. Deletion 2761delA produces a reading frame shift, premature protein synthesis termination and can cause predisposition for breast cancer. Deletion 414de13 does not cause a frame shift, but can result both in the disappearance of amino acid residue (D1343del) in the BRCA1 protein and in alteration of folding of the protein, entailing loss of its functional activity. Two variants of nucleotide sequence observed in the number of patients were classified as DNA polymorphisms (P871L and S1436S) rather than mutations as they were not tightly associated with the increased risk of breast cancer.
authors.forename: O S
authors.initials: OS
authors.lastname: Tikhomirova
authors.forename: N A
authors.initials: NA
authors.lastname: Grudinina
authors.forename: V I
authors.initials: VI
authors.lastname: Golubkov
authors.forename: M Iu
authors.initials: MIu
authors.lastname: Mandel'shtam
authors.forename: B V
authors.initials: BV
authors.lastname: Vasil'ev
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D012426:Russia
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human