Case report
Unusual presentation of Lynch Syndrome
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* Corresponding author: Susan Shanley Susan.Shanley@rmh.nhs.uk
1 MRC Clinical Sciences Centre, Imperial College, Hammersmith Campus, Du Cane Road, London, W12 0NN, UK
2 Department of Histopathology, University College London, Rockefeller Building, University Street, London, WC1E 6JJ, UK
3 North West Thames Regional Genetics Service, Northwick Park & St Mark's Hospital, Watford Road, Harrow, London, HA1 3UJ, UK
4 Colon Cancer Genetics Group, University of Edinburgh Cancer Research Centre and MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2XU, UK
5 Institute of Medical Genetics, Cardiff University, School of Medicine, Heath Park, Cardiff, UK
6 School of Medicine, Health Policy and Practice, University of East Anglia, Norwich, NR4 7TJ, UK
7 Human Genetics, Department of Pathology, Ninewells Hospital and Medical School, Dundee, UK
8 Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, Fulham Road, London, SW3 6JJ, UK
9 The Institute of Cancer Research, 15 Cotswold Rd, Sutton, Surrey, SM2 5NG, UK
Hereditary Cancer in Clinical Practice 2009, 7:12 doi:10.1186/1897-4287-7-12
Published: 3 June 2009Abstract
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.