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Title

Prise en charge multidisciplinaire du cancer colorectal héréditaire

Authors
Delozier-Blanchet, C
Brundler, M. A.
Egger, J. F.
Queneau, P. E.
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Published in Swiss Surgery. 2001, vol. 7, no. 3, p. 99-104
Abstract 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.
Keywords Adenomatous Polyposis Coli/genetics/pathology/ therapyAdolescentAdultChildColectomyColorectal Neoplasms, Hereditary Nonpolyposis/genetics/pathology/ therapyCombined Modality TherapyFemaleGenes, APC/geneticsGenetic CounselingGerm-Line MutationHumansMaleMiddle AgedNeoplasm StagingPatient Care TeamSwitzerland
Identifiers
PMID: 11407044
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Research groups Groupe Roth Arnaud (oncologie) (285)
Chirurgie viscérale (104)
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(ISO format)
SORAVIA, Claudio et al. Prise en charge multidisciplinaire du cancer colorectal héréditaire. In: Swiss Surgery, 2001, vol. 7, n° 3, p. 99-104. https://archive-ouverte.unige.ch/unige:9261

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Deposited on : 2010-07-12

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