Germ-line mutations at BRCA1 in northeastern France

Thirty-seven breast/ovarian or breast-only cancer families selected on a re gional basis have been analyzed for mutations at BRCA1. By combining direct sequence analysis and protein truncation test, mutations Were detected in 14 families (38%). We found seven different mutations, two of which have no t been described before. Mutations at BRCA1 were present in 60% of breast/o varian and 32% of breast-only cancer families. Mutations were frequent in f amilies with at least one breast cancer case before age 40 (44%) and/or one bilateral breast cancer case (54%). Two mutations, namely 3600del11 and G1 710X, are frequent in the population native from northeastern France. Orien ted BRCA1 analysis should facilitate carrier detection in breast and/or ova rian cancer families stemming from this French area.