title: Unusual presentation of Lynch Syndrome.
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.
authors.affiliation: Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, Fulham Road, London, SW3 6JJ, UK. vyu@imperial.ac.uk
authors.forename: Veronica P C C
authors.initials: VP
authors.lastname: Yu
authors.forename: Marco
authors.initials: M
authors.lastname: Novelli
authors.forename: Stewart J
authors.initials: SJ
authors.lastname: Payne
authors.forename: Sam
authors.initials: S
authors.lastname: Fisher
authors.forename: Rebecca A
authors.initials: RA
authors.lastname: Barnetson
authors.forename: Ian M
authors.initials: IM
authors.lastname: Frayling
authors.forename: Ann
authors.initials: A
authors.lastname: Barrett
authors.forename: David
authors.initials: D
authors.lastname: Goudie
authors.forename: Audrey
authors.initials: A
authors.lastname: Ardern-Jones
authors.forename: Ros
authors.initials: R
authors.lastname: Eeles
authors.forename: Susan
authors.initials: S
authors.lastname: Shanley