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Protein truncation test (PTT) and single-strand conformation polymorphism (SSCP) assay were used to scan the BRCA1and BRCA2genes in 136 unrelated Italian breast/ovarian cancer patients. In the sample tested, BRCA1and BRCA2equally contributed to site-specific breast cancer patients who reported one to two breast cancer-affected first-/ second-degree relative(s) or who were diagnosed before age 40 years in the absence of a family history of breast/ovarian cancer. BRCA1and BRCA2mutations were mostly found in patients with disease diagnosis before and after age 50 years, respectively. Moreover, in cases with familial clustering of site-specific breast cancer, BRCA1mostly accounted for tumours diagnosed before age 40 years and BRCA2for tumours diagnosed after age 50 years. The BRCA1and BRCA2mutation spectrum was consistent with a lack of significant founder effects in the sample of patients studied.