title: The 1100delAT BRCA1 and the 8765delAG BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews and haplotype comparison of Jewish and non-Jewish carriers.
abstract: Few mutations have been described in BRCA1 and BRCA2 in high-risk non-Ashkenazi Jews. In a Libyan family the 1100delAT BRCA1 mutation was detected and the 8765delAG BRCA2 mutation was previously described in two Jewish-Yemenite-families. In this study, the rate of these mutations in high-risk Jews of North African and Yemenite origin was assessed, and the BRCA1 -linked haplotype of Jewish and non-Jewish 1100delAT mutation carriers were compared. Genotyping included 64 high-risk Yemenite women (tested only for the BRCA 2 mutation) and 147 high-risk North African women, tested for both mutations. PCR amplification was followed by either restriction enzyme digestion or DGGE or dHPLC analyses and direct sequencing. For haplotyping, 5 BRCA1 -linked markers were used. Neither the 1100delAT BRCA1 nor the 8765delAG BRCA2 mutations were detected in any non-Ashkenazi individual. The haplotype of the non-Jewish 1100delAG mutation carrier differed from that of the Jewish-Libyan mutation carriers. We conclude that both1100delAT BRCA1 and 8765delAG BRCA2 mutations occur rarely in high-risk non-Ashkenazi Jews, and while the latter seems to be a founder mutation in some populations, the former occurs on a different background in ethnically diverse families.
authors.affiliation: Susanne Levy Gertner Oncogenetics Unit, the Danek Gertner Institute of Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
authors.forename: Inbar
authors.initials: I
authors.lastname: Gal
authors.forename: Ruth
authors.initials: R
authors.lastname: Gershoni Baruch
authors.forename: Daniel
authors.initials: D
authors.lastname: Haber
authors.forename: Efrat
authors.initials: E
authors.lastname: Dagan
authors.forename: Shlomit
authors.initials: S
authors.lastname: Eisenberg-Barzilai
authors.forename: Jamal
authors.initials: J
authors.lastname: Zidan
authors.forename: Eitan
authors.initials: E
authors.lastname: Friedman
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001483:Base Sequence; D044383:Black People / Q000235:genetics; D001943:Breast Neoplasms / Q000208:ethnology* / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018570:Risk Assessment
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein