Unusual presentation of Lynch Syndrome

Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, endometrium, ovary, upper gastrointestinal tract a...

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Detalles Bibliográficos
Autores principales: Yu, Veronica PCC, Novelli, Marco, Payne, Stewart J, Fisher, Sam, Barnetson, Rebecca A, Frayling, Ian M, Barrett, Ann, Goudie, David, Ardern-Jones, Audrey, Eeles, Ros, Shanley, Susan
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2696413/
https://www.ncbi.nlm.nih.gov/pubmed/19493351
http://dx.doi.org/10.1186/1897-4287-7-12
Descripción
Sumario:Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, endometrium, ovary, upper gastrointestinal tract and the urothelium although other cancers are rarely described. We describe a family of Lynch Syndrome with an hMLH1 mutation, that harbours an unusual tumour spectrum and its diagnostic and management challenges.

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