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Open Access 01-12-2009 | Case report

Unusual presentation of Lynch Syndrome

Authors: Veronica PCC Yu, Marco Novelli, Stewart J Payne, Sam Fisher, Rebecca A Barnetson, Ian M Frayling, Ann Barrett, David Goudie, Audrey Ardern-Jones, Ros Eeles, Susan Shanley

Published in: Hereditary Cancer in Clinical Practice | Issue 1/2009

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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Title: Unusual presentation of Lynch Syndrome
Authors: Veronica PCC Yu
Marco Novelli
Stewart J Payne
Sam Fisher
Rebecca A Barnetson
Ian M Frayling
Ann Barrett
David Goudie
Audrey Ardern-Jones
Ros Eeles
Susan Shanley
Publication date: 01-12-2009
Publisher: BioMed Central
Published in: Hereditary Cancer in Clinical Practice / Issue 1/2009
Electronic ISSN: 1897-4287
DOI: https://doi.org/10.1186/1897-4287-7-12

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