BRCA1 and BRCA2 mutations in central and southern Italian patients

Protein truncation test (PTT) and single-strand conformation polymorphism ( SSCP) assay were used to scan the BRCA1 and BRCA2 genes in 136 unrelated It alian breast/ovarian cancer patients. In the sample tested, BRCA1 and BRCA2 equally contributed to site-specific breast cancer patients who reported o ne to two breast cancer-affected first-/ second-degree relative(s) or who w ere diagnosed before age 40 years in the absence of a family history of bre ast/ovarian cancer. BRCA1 and BRCA2 mutations were mostly found in patients with disease diagnosis before and after age 50 years, respectively. Moreov er, in cases with familial clustering of site-specific breast cancer, BRCA1 mostly accounted for tumours diagnosed before age 40 years and BRCA2 for t umours diagnosed after age 50 years. The BRCA1 and BRCA2 mutation spectrum was consistent with a lack of significant founder effects in the sample of patients studied.