Unusual presentation of Lynch Syndrome

Yu, Veronica P. C. C., Novelli, Marco, Payne, Stewart J., Fisher, Sam, Barnetson, Rebecca A., Frayling, Ian, Barrett, Ann, Goudie, David, Ardern-Jones, Audrey, Eeles, Ros and Shanley, Susan 2009. Unusual presentation of Lynch Syndrome. Hereditary Cancer in Clinical Practice 7 , 12. 10.1186/1897-4287-7-12

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Publisher:	BioMed Central
ISSN:	1897-4287
Last Modified:	13 Nov 2024 17:00
URI:	https://orca.cardiff.ac.uk/id/eprint/70063

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