Could the 185delAG BRCA1 mutation be an ancient Jewish mutation?

Revital Bruchim Bar-Sade, Livia Theodor, Eva Gak, Anna Kruglikova, Galit Hirsch-Yechezkel, Baruch Modan, Graciela Kuperstein, Uri Seligsohn, Gideon Rechavi, Eitan Friedman*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


A predominant mutation within the BRCA1 predisposition gene, 185delAG, has been detected in about 1% of the Ashkenazi population, considered a high-risk group for breast and ovarian cancers. We examined 639 unrelated healthy Jews of Iraqi extraction, a presumed low-risk group, for the existence of this mutation. Three individuals were identified as 185delAG mutation carriers, and haplotype analysis of the Iraqi mutation carriers revealed that 2 of the Iraqis shared a common haplotype with 6 Ashkenazi mutation carriers, and 1 had a haplotype which differed by a single marker. This study suggests that the BRCA1 185delAG mutation also occurs in populations considered at low-risk for breast and ovarian cancers, and that it might have occurred prior to the dispersion of the Jewish people in the Diaspora, at least at the time of Christ.

Original languageEnglish
Pages (from-to)413-416
Number of pages4
JournalEuropean Journal of Human Genetics
Issue number6
StatePublished - 1997
Externally publishedYes


  • 185delAG mutation
  • BRCA1 gene
  • Common haplotype
  • Inherited predisposition
  • Low-risk population


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