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