TY - JOUR
T1 - Could the 185delAG BRCA1 mutation be an ancient Jewish mutation?
AU - Bar-Sade, Revital Bruchim
AU - Theodor, Livia
AU - Gak, Eva
AU - Kruglikova, Anna
AU - Hirsch-Yechezkel, Galit
AU - Modan, Baruch
AU - Kuperstein, Graciela
AU - Seligsohn, Uri
AU - Rechavi, Gideon
AU - Friedman, Eitan
PY - 1997
Y1 - 1997
N2 - 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.
AB - 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.
KW - 185delAG mutation
KW - BRCA1 gene
KW - Common haplotype
KW - Inherited predisposition
KW - Low-risk population
UR - http://www.scopus.com/inward/record.url?scp=13144305098&partnerID=8YFLogxK
U2 - 10.1159/000484800
DO - 10.1159/000484800
M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???
AN - SCOPUS:13144305098
SN - 1018-4813
VL - 5
SP - 413
EP - 416
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 6
ER -