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Anales del Sistema Sanitario de Navarra
versão impressa ISSN 1137-6627
Resumo
ALONSO, A. et al. Genetic mechanisms in the hereditary predisposition to colorectal cancer. Anales Sis San Navarra [online]. 2006, vol.29, n.1, pp.59-76. ISSN 1137-6627.
A proportion of colorectal cancers shows some type of genetic predisposition that can be recognised in clinical practice. From the classical dominant inheritance pattern of familial adenomatous polyposis or hereditary non-polyposis colorectal cancer, through the recessive transmission of the MYH associated polyposis, to the new syndromes of the "serrated pathway" or low-penetrance alleles, the discovery of new genes and a deeper understanding of the mechanisms of action of already-known ones are enabling us to understand new aspects of the colorectal carcinogenesis. This is throwing a new light on some of the observed familial aggregation patterns which had remained unexplained.
Palavras-chave : Colorectal cancer; Cancer genes; Hereditary non-polyposis colorectal cancer; APC; Neoplastic syndromes; Hereditary.