Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population

The 185delAG BRCA1 deletion occurs with a high frequency in Ashkenazi Jews. We detected this mutation in two Spanish Gypsy women (the only Gypsy participants) in an extensive study of 90 high-risk families and 160 women with early-onset breast cancer. One of these Gypsy women belonged to a high-risk family and the other had had early-onset breast cancer. The mutation was also detected in 1 out of 25 Gypsy samples unrelated to breast cancer. All the samples with the mutation shared the marker alleles present in Jewish samples with 185delAG. This is the first report of this mutation in a non-Jewish well-defined ethnic population. According to these findings the carrier frequency of this mutation in Gypsy individuals could be several times higher than that of the general population, and this should be taken into consideration in genetic screening for cancer in Gypsy populations.