Some of the mutations we detected may be unrecognized germline mutations; for example, two of our patients demonstrate a BRCA1 mutation recently described as a possible Northern Italian founder mutation [31], and one of the MSH6 mutations we detected in five different patients has been described in a family with Muir-Torre syndrome, a variant of Lynch syndrome [32] as well as a family with early-onset colorectal cancer [33]. The gene discussed is MSH6; the disease is colorectal cancer.