Familial adenomatous polyposis
Finlay Macrae1, D du Sart, S Nasioulas
1Department of Colorectal Medicine and Genetics and Familial Cancer Clinic, PO Box 2010, The Royal Melbourne Hospital, Melbourne, Victoria 3050, Australia. finlay.macrae@mh.org.au
Abstract:
A multimodal approach of complementary techniques targeting primarily truncating, deletion and rearrangement mutations provides a robust screening protocol that identifies the vast majority of pathogenic germline APC gene mutations in FAP patients. Patients in whom no mutation is identified through this mutation protocol, may be sub-cohorts representing a different FAP pathogenesis including MYH associated polyposis and somatic cell mosaicism for APC gene mutations.
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