Familial adenomatous polyposis.
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.
Macrae
Finlay
F
Department 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
du Sart
D
D
Nasioulas
S
S
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000235:genetics; D045647:DNA Glycosylases / Q000235:genetics; D004252:DNA Mutational Analysis; D015972:Gene Expression Regulation, Neoplastic; D017491:Genes, APC; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D016045:Human Genome Project; D006801:Humans; D009030:Mosaicism; D009154:Mutation; D011237:Predictive Value of Tests
D045647:DNA Glycosylases; C061738:mutY adenine glycosylase