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

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Familial Cancer : Volume 4, Issue 1, Supplement,March 2005

Familial Cancer : Volume 4, Issue 1, March 2005

Familial Cancer : Volume 3

Familial Cancer : Volume 2

Familial Cancer : Volume 1

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

Content Provider	Springer Nature Link
Author	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
Copyright Year	2005
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.
Starting Page	85
Ending Page	88
Page Count	4
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	4
Issue Number	2
e-ISSN	15737292
Language	English
Publisher	Kluwer Academic Publishers
Publisher Date	2005-01-01
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	BRCA1 founder mutation population screen shared haplotype Human Genetics Oncology Epidemiology
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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