The Tyr978X BRCA1 mutation: Occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews

Lluís Quintana-Murci, Inbar Gal, Tangiz Bakhan, Hélène Quach, S. Hamid Sayar, Ronit Shiri-Sverdlov, Ruth Gershoni Baruch, Ken McElreavey, Efrat Dagan, Steven Narod, Eitan Friedman

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)85-88
Number of pages4
JournalFamilial Cancer
Volume4
Issue number2
DOIs
StatePublished - Jun 2005
Externally publishedYes

Fingerprint

Jews
Haplotypes
Mutation
Canada
Population
BRCA1 Gene
Germ-Line Mutation
Israel
Iran
Digestion
Alleles
Polymerase Chain Reaction

Keywords

  • BRCA1
  • Founder mutation
  • Population screen
  • Shared haplotype

ASJC Scopus subject areas

  • Cancer Research
  • Genetics

Cite this

Quintana-Murci, L., Gal, I., Bakhan, T., Quach, H., Sayar, S. H., Shiri-Sverdlov, R., ... Friedman, E. (2005). The Tyr978X BRCA1 mutation: Occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews. Familial Cancer, 4(2), 85-88. https://doi.org/10.1007/s10689-004-2101-z

The Tyr978X BRCA1 mutation : Occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews. / Quintana-Murci, Lluís; Gal, Inbar; Bakhan, Tangiz; Quach, Hélène; Sayar, S. Hamid; Shiri-Sverdlov, Ronit; Baruch, Ruth Gershoni; McElreavey, Ken; Dagan, Efrat; Narod, Steven; Friedman, Eitan.

In: Familial Cancer, Vol. 4, No. 2, 06.2005, p. 85-88.

Research output: Contribution to journalArticle

Quintana-Murci, L, Gal, I, Bakhan, T, Quach, H, Sayar, SH, Shiri-Sverdlov, R, Baruch, RG, McElreavey, K, Dagan, E, Narod, S & Friedman, E 2005, 'The Tyr978X BRCA1 mutation: Occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews', Familial Cancer, vol. 4, no. 2, pp. 85-88. https://doi.org/10.1007/s10689-004-2101-z
Quintana-Murci, Lluís ; Gal, Inbar ; Bakhan, Tangiz ; Quach, Hélène ; Sayar, S. Hamid ; Shiri-Sverdlov, Ronit ; Baruch, Ruth Gershoni ; McElreavey, Ken ; Dagan, Efrat ; Narod, Steven ; Friedman, Eitan. / The Tyr978X BRCA1 mutation : Occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews. In: Familial Cancer. 2005 ; Vol. 4, No. 2. pp. 85-88.
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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.",
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