TITLE

AETIOLOGY OF COLORECTAL CANCER AND RELIEVANCE OF MONOGENIC INHERITANCE

AUTHOR(S)
de Leon, M. Ponz; Benatti, P.; Pedroni, M.; Borghi, F.; Scarselli, A.; Di Gregorio, C.; Losi, L.; Rossi, G.; Roncucci, L.
PUB. DATE
April 2003
SOURCE
Gut;Apr2003 Supplement 1, Vol. 52, pA29
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Although many factors contribute to the development of colorectal tumours, the only clearly identified aetiological factors include inheritance (Lynch syndrome (HNPCC) and familial polyposis (FAP)), inflammatory bowel diseases (ulcerative colitis and Crohn's disease, IBD), papillomavirus and AIDS (HIV). Purpose: To find our what proportion of colorectal malignancies can be attributed to each of these specific factors. Patients and Methods: Data ora colorectal cancer registry have been analysed, over a period of 15 years, during which nearly 2500 cases were recorded. In patients with clinical suspicion of hereditary tumours, microsatellite instability was assessed, and in positive families constitutional mutations of the main mismatch repair genes (hMSH2, hMLH1, hMSH6) were evaluated by single strand conformation polymorphism and sequencing. Results: IBD, FAP, and AIDS were rare causes of colorectal cancer (3, 3 and 1 cases, respectively). Anal squamous carcinoma (attributed to papillomavirus infection) developed in 27 patients (1.0%). In 58 patients (from 34 families) a clinical diagnosis of HNPCC could be established (2.4% of the total). Altogether, cases with a know aetiology (N = 92) accounted for only 3.7% of all patients. Microsatellite instability was found in 15 HNPCC families, while germ line mutations in one of the mismatch repair genes were detected in 6 families (12 patients, 0.5% of the total). Microsatellite positive families, regardless the mutational status, were clinically similar, thus suggesting an involvement of the mismatch repair system even when mutations were not detected. Conclusion: The study suggests that the aetiology of colorectal neoplasms remains elusive in the large majority of cases. Among specific causes, HNPCC represents by far the most frequent. However, by using a population based approach, constitutional mutations of the main genes responsible for HNPCC can be detected in only 20% of the cases.
ACCESSION #
9747454

 

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