Evolution of the nomenclature for the hereditary colorectal cancer syndromes.
DOI: 10.1007/S10689-004-4489-X
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摘要: The hereditary forms of colorectal cancer have been given many names historically as the manifestations gradually understood. Lynch syndrome has had several names, most prominently ‘Hereditary Nonpolyposis Colorectal Cancer’ or HNPCC. Clarification genetic basis and full phenotypic expression this disease mandates a more clinically useful name that clarifies consideration non-colonic cancers in family history, unifies diagnosis around germline mutation DNA mismatch repair (MMR) gene. term ‘Lynch syndrome’ is proposed for autosomal dominant caused by MMR
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