Affiliation: Royal Melbourne Hospital
- A review of juvenile polyposis syndromeElizabeth Chow
Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Victoria, Australia
J Gastroenterol Hepatol 20:1634-40. 2005..This article reviews our knowledge to date of the genetics and clinicopathological features of the Juvenile Polyposis Syndrome, and discusses the current expert recommendations for genetic testing, disease screening and management...
- Survey of HNPCC Management Analysis of Responses from 18 International Cancer CentresElizabeth Chow
Familial Cancer Clinic, Royal Melbourne Hospital, Victoria, Australia
Hered Cancer Clin Pract 3:137-46. 2005....
- Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYHElizabeth Chow
Familial Cancer Clinic, Royal Melbourne Hospital, Melbourne, Victoria, Australia
Gastroenterology 131:30-9. 2006..There is no known germ-line predisposition. We aimed to characterize the clinicopathologic features of 38 patients with HPS and explore the role of germ-line mutations in the base excision repair genes MBD4 and MYH...
- A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene?Elizabeth Chow
Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Victoria, Australia
J Gastroenterol Hepatol 22:2292-7. 2007..Genetic heterogeneity remains evident, as the balance of cases is not accounted for by mutations in these genes. The aim of this study was to determine the mutation responsible in a family with juvenile polyposis...
- Colorectal cancer and inherited mutations in base-excision repairElizabeth Chow
Royal Melbourne Hospital, Victoria, Australia
Lancet Oncol 5:600-6. 2004..Current recommendations for the screening and management of the disease are also discussed...