title: The 4154delA mutation carriers in the BRCA1 gene share a common ancestry.
abstract: Uncertainty exists whether the 4154delA mutation of the BRCA1 gene detected in unrelated individuals from Latvia, Poland and Russia is a founder mutation with a common ancestral origin. To trace back this problem we analysed the mutation-associated haplotype of the BRCA1 intragenic SNPs as well as intragenic and nearby STR markers in mutation carriers from the aforementioned populations. The mutation-associated SNP alleles were found to be "T-A-A-A-A-G" for six intragenic SNPs of the BRCA1 gene (IVS8-58delT, 3232A/G, 3667A/G, IVS16-68A/G, IVS16-92A/G, IVS18+66G/A, respectively). The alleles 195, 154, 210 and 181 were found to be associated with the 4154delA mutation for STR markers D17S1325, D17S855, D17S1328 and D17S1320, correspondingly. Further analysis of markers in the 4154delA mutation carriers from all three populations allows us to assert that all analysed mutation carriers share a common ancestry.
authors.affiliation: Latvian Biomedical Research and Study Centre, Ratsupites str. 1, Riga, 1067, Latvia.
authors.forename: Silvija
authors.initials: S
authors.lastname: Ozolina
authors.forename: Olga
authors.initials: O
authors.lastname: Sinicka
authors.forename: Eriks
authors.initials: E
authors.lastname: Jankevics
authors.forename: Inna
authors.initials: I
authors.lastname: Inashkina
authors.forename: Jan
authors.initials: J
authors.lastname: Lubinski
authors.forename: Bohdan
authors.initials: B
authors.lastname: Gorski
authors.forename: Jacek
authors.initials: J
authors.lastname: Gronwald
authors.forename: Tatyana
authors.initials: T
authors.lastname: Nasedkina
authors.forename: Olga
authors.initials: O
authors.lastname: Fedorova
authors.forename: Ludmila
authors.initials: L
authors.lastname: Lyubchenko
authors.forename: Laima
authors.initials: L
authors.lastname: Tihomirova
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007844:Latvia; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree; D011044:Poland; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D012426:Russia