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- Title
Prevalence and Phenotypes of APC and MUTYH Mutations in Patients With Multiple Colorectal Adenomas.
- Authors
Grover, Shilpa; Kastrinos, Fay; Steyerberg, Ewout W.; Cook, E. Francis; Dewanwala, Akriti; Burbidge, Lynn Anne; Wenstrup, Richard J.; Syngal, Sapna
- Abstract
The article provides information on a clinical research conducted to determine the prevalence of pathogenic adenomatous polyposis coli (APC) gene and mutY homolog (MUTYH) gene mutations in patients with multiple colorectal adenomas who had undergone genetic testing, The study also compared the prevalence and clinical characteristics of APC and MUTYH mutation carriers. The study included 8676 individuals who had undergone full gene sequencing and large rearrangement analysis of the APC gene and targeted sequence analysis for the most common MUTYH mutations. The results of the study included colorectal adenomas in 7225 individuals, 1457 with classic polyposis and 3253 with attenuated polyposis.
- Subjects
MEDICAL research; GENETIC mutation; ADENOMATOUS polyposis coli; GENETIC testing; COLON cancer patients; HUMAN chromosome abnormality diagnosis; NUCLEOTIDE sequence; GENE targeting
- Publication
JAMA: Journal of the American Medical Association, 2012, Vol 308, Issue 5, p485
- ISSN
0098-7484
- Publication type
Article
- DOI
10.1001/jama.2012.8780