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Indexed/Abstracted in: EMBASE, Scopus, Emerging Sources Citation Index
Online ISSN 1827-1782
Cavallaro I., Lauretta A., Pennisi S., Cavallaro V.
Patients with the familial syndrome hereditary nonpolyposis colorectal carcinoma (HNPCC) exhibit an increased risk for several tumor types, of which the greatest risk is for colorectal and endometrial carcinoma. HNPCC is caused by a germline mutation in one of several identified mismatch repair (MMR) genes and typically presents with microsatellite instability (MSI) and frequent loss of MMR protein expression in the tumor tissue. To date, seven mismatch-repair (MMR) genes MLH1, MLH3, MSH2, MSH6, MSH3, PMS1 and PMS2, are known to be involved in human MMR function. Two of those, MLH1 and MSH2, are further the most common susceptibility genes for hereditary non-polyposis colorectal cancer. We report the history of three families that fullfilled Amsterdam criteria and four cases of putative Hnpcc occurred in our experience since 1996. We performed resective surgery in all patients except one where an endoscopic polypectomy was performed. A female patient was affected of 4 metachronous cancers: colon, breast, endometrium and ureter. Genetic test was proposed to all patients: we found a mutation sequencing msh2 gene (C95>T, gln>stop) in a family. We discuss about diagnosis, counselling, screening and therapy managment in families that fullfill amsterdam critheria, in HNPCC putative families and families carriers of mutation.