Prise en charge multi-disciplinaire du cancer colorectal héréditaire
| Autor: | Marie-Anne Brundler, Jean-Louis Blouin, C. D. DeLozier-Blanchet, Arnaud Roth, Philippe Morel, Marc-Claude Marti, P. E. Queneau, Pierre Hutter, Stylianos E. Antonarakis, Jean-François Egger, Claudio Soravia |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Amsterdam criteria medicine.medical_specialty medicine.diagnostic_test business.industry Colorectal cancer Genetic counseling nutritional and metabolic diseases Microsatellite instability medicine.disease Gastroenterology digestive system diseases Germline mutation Internal medicine Operative report Medicine Surgery Family history business neoplasms Genetic testing |
| Zdroj: | Swiss Surgery. 7:0099-0104 |
| ISSN: | 1023-9332 |
| DOI: | 10.1024/1023-9332.7.3.99 |
| Popis: | AIM: The aim of this study was to assess the feasibility and success of multidisciplinary approach for the management of hereditary colorectal cancer. MATERIAL AND METHODS: From November 1998 to November 2000, 32 individuals with putative familial/hereditary predisposition to colorectal cancer were investigated for adenomatous polyposis (attenuated or classical familial adenomatous polyposis coli, FAP) or for hereditary nonpolyposis colorectal cancer (HNPCC). Amsterdam criteria (I and II) and Bethesda guidelines were used to select putative HNPCC kindreds. Clinical data including endoscopy, pathological and operative reports as well as family history were collected. Pre- and post-test genetic counseling was offered to at-risk individuals. Genetic testing included microsatellite instability (MSI) and search for germline mutations in the APC, hMSH2 and hMLH1 genes. Immunohistochemistry (IHC) of hMSH2 and hMLH1 protein expression in tumour samples was also performed. RESULTS: 11 APC mutations were characterized, whereas four mutations in HNPCC genes were found in hMSH2 (2) and in hMLH1 (2). MSI and IHC correlated completely for cases with identified pathogenic mutation (100%). CONCLUSION: A thorough evaluation and management of hereditary colorectal requires a multidisciplinary approach. Thus, more mutation carriers can be identified and benefit from appropriate genetic counselling, while non-carrier individuals are relieved from unnecessary surveillance. |
| Databáze: | OpenAIRE |
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