Human Molecular Genetics, Vol 7, 801-805, Copyright © 1998 by Oxford University Press
RB Bar-Sade, A Kruglikova, B Modan, E Gak, G Hirsh-Yechezkel, L Theodor, I Novikov, R Gershoni-Baruch, S Risel, MZ Papa, G Ben-Baruch and E Friedman
The 185delAG mutation in BRCA1 is detected in Ashkenazi Jews both in
familial breast and ovarian cancer and in the general population. All
tested Ashkenazi mutation carriers share the same allelic pattern at the
BRCA1 locus. Our previous study showed that this 'Ashkenazi' mutation also
occurs in Iraqi Jews with a similar allelic pattern. We extended our
analysis to other non-Ashkenazi subsets: 354 of Moroccan origin, 200
Yemenites and 150 Iranian Jews. Heteroduplex analysis complemented by
direct DNA sequencing of abnormally migrating bands were employed. Four of
Moroccan origin (1. 1%) and none of the Yemenites or Iranians was a carrier
of the 185delAG mutation. BRCA1 allelic patterns were determined for four
of these individuals and for 12 additional non-Ashkenazi 185delAG mutation
carriers who had breast/ovarian cancer. Six non-Ashkenazi individuals
shared the common 'Ashkenazi haplotype', four had a closely related
pattern, and the rest ( n = 6) displayed a distinct BRCA1 allelic pattern.
We conclude that the 185delAG BRCA1 mutation occurs in some non-Ashkenazi
populations at rates comparable with that of Ashkenazim. The majority of
Jewish 185delAG mutation carriers have a common allelic pattern, supporting
the founder effect notion, but dating the mutation's origin to an earlier
date than currently estimated. However, the different allelic pattern at
the BRCA1 locus even in some Jewish mutation carriers, might suggest that
the mutation arose independently.
ARTICLES
The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim
The Susanne Levy Geatner Oncogenetics Laboratory, Institutes of Genetics and Oncology, Chaim Sheba Medical Center, Tel-Hashomer 52621, Israel.
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