title: The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews.
abstract: BACKGROUND
  The Tyr978X BRCA1 mutation is a founder mutation detected in high-risk Iraqi-Iranian Jewish families as well as in the general non-Ashkenazi population. The same mutation was also reported in non-Jewish high-risk women from Canada. Its occurrence in non-Jewish individuals from Iran has never been tested.
  
  
  OBJECTIVE
  Assess the occurrence rate of Tyr978X BRCA1 germline mutation in the general population of Iranian non- Jewish individuals and compare the BRCA1-linked haplotype of Jewish and non-Jewish mutation carriers.
  
  
  METHODS
  PCR amplification of the relevant fragment of the BRCA1 gene, followed by restriction enzyme digestion that differentiates wild type from mutant allele. For haplotyping, 7 BRCA1-linked markers were used. The tested population included 442 apparently healthy Iranian non-Jewish individuals, and 17 mutation carriers from Israel and Canada.
  
  
  RESULTS
  The Tyr978X BRCA1 mutation was not detected in any Iranian non-Jewish individual. The intragenic haplotype of all Jewish Israeli mutation carriers was identical, but differed from that of Canadian non-Jews in two intragenic markers.
  
  
  CONCLUSIONS
  The Tyr978X BRCA1 mutation which is a founder mutation in Jews, may be a hot spot in non-Jewish high risk women, and probably does not represent a rare sequence variant in Iranian non-Jews.
authors.affiliation: Laboratoire de Reproduction, Fertilite' et Populations, Institut Pasteur, Paris, France.
authors.forename: Lluís
authors.initials: L
authors.lastname: Quintana-Murci
authors.forename: Inbar
authors.initials: I
authors.lastname: Gal
authors.forename: Tangiz
authors.initials: T
authors.lastname: Bakhan
authors.forename: Hélène
authors.initials: H
authors.lastname: Quach
authors.forename: S Hamid
authors.initials: SH
authors.lastname: Sayar
authors.forename: Ronit
authors.initials: R
authors.lastname: Shiri-Sverdlov
authors.forename: Ruth Gershoni
authors.initials: RG
authors.lastname: Baruch
authors.forename: Ken
authors.initials: K
authors.lastname: McElreavey
authors.forename: Efrat
authors.initials: E
authors.lastname: Dagan
authors.forename: Steven
authors.initials: S
authors.lastname: Narod
authors.forename: Eitan
authors.initials: E
authors.lastname: Friedman
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics; D002170:Canada / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D005602:France / Q000208:ethnology; D019398:Genes, BRCA1; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D007492:Iran / Q000453:epidemiology; D007557:Israel / Q000453:epidemiology; D007585:Jews / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics; D012307:Risk Factors