By Lisa A. Boardman
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Additional resources for Intestinal Polyposis Syndromes: Diagnosis and Management
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology. 2009;137:1976–85. 052. 36. Lipton L, Halford SE, Johnson V, Novelli MR, Jones A, Cummings C, et al. Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. Cancer Res. 2003;63:7595–9. 37. Aretz S, Tricarico R, Papi L, Spier I, Pin E, Horpaopan S, et al. Tyr179Cys and p. Gly396Asp by founder events. Eur J Hum Genet. 2014;22:923–9. 309. 38. Jones S, Lambert S, Williams GT, Best JM, Sampson JR, Cheadle JP.
MUTYH Heterozygotes As genetic testing for MUTYH has entered the algorithm for germline testing, either through cancer-specific genetic testing or via next-generation sequencing panels of hereditary cancer genes, this has led to the identification of monoallelic carriers of MUTYH mutations. The risk of CRC to MUTYH carriers was initially studied in parents of patients with biallelic MUTYH mutations and was estimated to be approximately twofold the general population incidence . However, a more recent 2 MUTYH-Associated Polyposis 31 study of 2,332 patients with monoallelic MUTYH mutations found that the risk to carriers was dependent upon the family history of CRC.
Steinbach G, Lynch PM, Phillips RK, Wallace MH, Hawk E, Gordon GB, et al. The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med. 2000;342(26):1946–52. Epub 2000/06/30. 24. Lynch PM, Ayers GD, Hawk E, Richmond E, Eagle C, Woloj M, et al. The safety and efficacy of celecoxib in children with familial adenomatous polyposis. Am J Gastroenterol. 2010;105(6):1437–43. Epub 2010/03/18. 25. Sturgeon D, Herline AJ, Wise PE. Do NSAIDs suppress polyps in MUTYH-associated polyposis?
Intestinal Polyposis Syndromes: Diagnosis and Management by Lisa A. Boardman