Abstract
Although the literature describes mutY homolog gene (MYH) polyposis as an autosomal recessive syndrome, we report a case of colorectal cancer in a carrier of MYH polyposis. Biallelic mutations in the MYH gene have been shown to increase the risk of colorectal cancer over the lifetime of the mutation carrier.1,2 However, there is no clear consensus in the literature as whether a monoallelic mutation increases the risk for colorectal cancer.3 In this report, we postulate that a single mutation is sufficient to increase the risk of colorectal cancer. We also propose that the G382D MYH mutation may play a dominant rather than a recessive role in polyposis and cancer development.
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Abbreviations
- MYH:
-
mutY homolog gene
- FAP:
-
Familial adenomatous polyposis
- HNPCC:
-
Hereditary nonpolyposis colorectal cancer
References
Kastrinos F, Syngal S (2011) Inherited colorectal cancer syndromes. Cancer J 17(6):405–15
Goodenberger M, Lindor NM (2011) Lynch syndrome and MYH-associated polyposis: review and testing strategy. J Clin Gastroenterol 45(6):488–500.
Balaguer F, Castellvi-Bel S, Castells A, Andreu M, Munoz J, Gisbert JP, et al. Identification of MYH mutation carriers in colorectal cancer: a multicenter, case–control, population-based study. Clin Gastroenterol Hepatol. 2007 5(3):379–87.
Bolocan A, Ion D, Stoian RV, Serban MB (2011) Map syndrome (MYH Associated Polyposis) colorectal cancer, etiopathological connections. J Med Life 4(1):109–11.
Gryfe R. Inherited colorectal cancer syndromes. Clin Colon Rectal Surg. 2009 22(4):198–208.
Lindor NM. Hereditary colorectal cancer: MYH-associated polyposis and other newly identified disorders. Best Pract Res Clin Gastroenterol. 2009 23(1):75–87.
Croitoru ME, Cleary SP, Di Nicola N, Manno M, Selander T, Aronson M, et al. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst. 2004 96(21):1631–4.
Plotz G, Casper M, Raedle J, Hinrichsen I, Heckel V, Brieger A (2012) et al. MUTYH gene expression and alternative splicing in controls and polyposis patients. Hum Mutat 33(7):1067–74.
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Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.
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The authors have no conflicts of interest or sources of funding to disclose.
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Khalaf, R., Jones, C., Strutt, W. et al. Colorectal Cancer in a Monoallelic MYH Mutation Carrier. J Gastrointest Surg 17, 1500–1502 (2013). https://doi.org/10.1007/s11605-013-2206-5
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DOI: https://doi.org/10.1007/s11605-013-2206-5