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Could the 185delAG BRCA1 mutation be an ancient Jewish mutation?
R B Bar-Sade1, L Theodor, E Gak
1Susanne Levy Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
European Journal of Human Genetics : EJHG
|February 5, 1998
Summary
The BRCA1 185delAG mutation, linked to breast and ovarian cancers, was found in healthy Iraqi Jews, a low-risk group. This suggests the mutation predates Jewish diaspora and occurs in populations previously considered low-risk.
Area of Science:
- Genetics
- Oncology
- Population Studies
Background:
- The BRCA1 185delAG mutation is prevalent in Ashkenazi Jews, a high-risk group for breast and ovarian cancers.
- Iraqi Jews are considered a low-risk population for these cancers.
Purpose of the Study:
- To investigate the presence of the BRCA1 185delAG mutation in healthy Iraqi Jews.
- To determine the historical origins and population distribution of this specific BRCA1 mutation.
Main Methods:
- Screening of 639 unrelated healthy Iraqi Jews for the 185delAG mutation.
- Haplotype analysis of mutation carriers to assess genetic relatedness.
Main Results:
- Three individuals of Iraqi extraction were identified as carriers of the 185delAG mutation.
- Haplotype analysis indicated shared ancestry between two Iraqi carriers and Ashkenazi carriers, suggesting a common origin.
- One Iraqi carrier exhibited a distinct haplotype, differing by a single marker.
Conclusions:
- The BRCA1 185delAG mutation is present in populations considered at low risk for breast and ovarian cancers.
- The mutation likely predates the Jewish Diaspora, possibly originating around the time of Christ.
- This finding expands our understanding of the mutation's prevalence and historical spread across diverse Jewish populations.