The 1100delAT BRCA1 and the 8765delAG BRCA2 mutations: Occurrence in high-risk non-Ashkenazi Jews and haplotype comparison of Jewish and non-Jewish carriers

Inbar Gal, Ruth Gershoni Baruch, Daniel Haber, Efrat Dagan, Shlomit Eisenberg-Barzilai, Jamal Zidan, Eitan Friedman

Research output: Contribution to journalArticlepeer-review

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 both 1100delAT 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.

Original languageEnglish
Pages (from-to)11-14
Number of pages4
JournalFamilial Cancer
Volume3
Issue number1
DOIs
StatePublished - 2004
Externally publishedYes

Bibliographical note

Funding Information:
This study was performed in part in fulfillment of the requirements of Inbar Gal towards her masters degree at the Department of Human Genetics, Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel. This study was sponsored in part by a grant from the Middle East Cancer Consortium (MECC) to Eitan Friedman.

Keywords

  • BRCA1/2
  • Founder mutations
  • Genetic isolate
  • High-risk non-Ashkenazim
  • Shared haplotype

ASJC Scopus subject areas

  • Genetics
  • Oncology
  • Genetics(clinical)
  • Cancer Research

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