Hered Cancer Clin Pract. 2009 Jun 3;7(1):12.

Unusual presentation of Lynch Syndrome.

Yu VP, Novelli M, Payne SJ, Fisher S, Barnetson RA, Frayling IM, Barrett A, Goudie D, Ardern-Jones A, Eeles R, Shanley S.

Source

Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, Fulham Road, London, SW3 6JJ, UK. vyu@imperial.ac.uk

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.

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