MUTATION ANALYSIS OF THE BRCA2 GENE IN BREAST OVARIAN CANCER SPANISH FAMILIES - IDENTIFICATION OF 2 NEW MUTATIONS/

The recently isolated gene BRCA2 is responsible for about 45% of famil ial breast cancer and the majority of male breast cancer families. We have screened 12 high risk breast/ovarian Spanish families for mutatio ns in BRCA2, using SSCP followed by direct sequencing. We have found m utations in four of our 12 families (33.3%), including two with male b reast cancer. Three of the mutations were frameshift and one was a mis sense, Two of the mutations have been previously published and two are new mutations. (C) 1997 Elsevier Science Ireland Ltd.