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The 1100delAT BRCA1 and the 8765delAG BRCA2 Mutations: Occurrence in High-Risk Non-Ashkenazi Jews and Haplotype Comparison of Jewish and Non-Jewish Carriers

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The 1100delAT BRCA1 and the 8765delAG BRCA2 Mutations: Occurrence in High-Risk Non-Ashkenazi Jews and Haplotype Comparison of Jewish and Non-Jewish Carriers

Content Provider	Springer Nature Link
Author	Gal, Inbar Baruch, Ruth Gershoni Haber, Daniel Dagan, Efrat Eisenberg Barzilai, Shlomit Zidan, Jamal Friedman, Eitan
Copyright Year	2004
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 BRCA2 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.
Starting Page	11
Ending Page	14
Page Count	4
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	3
Issue Number	1
e-ISSN	15737292
Language	English
Publisher	Kluwer Academic Publishers
Publisher Date	2004-01-01
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Oncology Epidemiology
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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