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Role of MUTYH in human cancer.

Mazzei F, Viel A, Bignami M.

Mutat Res. 2013 Mar-Apr;743-744:33-43. doi: 10.1016/j.mrfmmm.2013.03.003. Epub 2013 Mar 16. Review.


Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.

Ruggieri V, Pin E, Russo MT, Barone F, Degan P, Sanchez M, Quaia M, Minoprio A, Turco E, Mazzei F, Viel A, Bignami M.

Oncogene. 2013 Sep 19;32(38):4500-8. doi: 10.1038/onc.2012.479. Epub 2012 Oct 29.


Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.

Kundu S, Brinkmeyer MK, Livingston AL, David SS.

DNA Repair (Amst). 2009 Dec 3;8(12):1400-10. doi: 10.1016/j.dnarep.2009.09.009.


Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

Ali M, Kim H, Cleary S, Cupples C, Gallinger S, Bristow R.

Gastroenterology. 2008 Aug;135(2):499-507. doi: 10.1053/j.gastro.2008.04.035. Epub 2008 May 7.


Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis.

D'Agostino VG, Minoprio A, Torreri P, Marinoni I, Bossa C, Petrucci TC, Albertini AM, Ranzani GN, Bignami M, Mazzei F.

DNA Repair (Amst). 2010 Jun 4;9(6):700-7. doi: 10.1016/j.dnarep.2010.03.008. Epub 2010 Apr 24.


Understanding the role of the Q338H MUTYH variant in oxidative damage repair.

Turco E, Ventura I, Minoprio A, Russo MT, Torreri P, Degan P, Molatore S, Ranzani GN, Bignami M, Mazzei F.

Nucleic Acids Res. 2013 Apr;41(7):4093-103. doi: 10.1093/nar/gkt130. Epub 2013 Mar 4.


Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.

Goto M, Shinmura K, Nakabeppu Y, Tao H, Yamada H, Tsuneyoshi T, Sugimura H.

Hum Mutat. 2010 Nov;31(11):E1861-74. doi: 10.1002/humu.21363.


MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.

Molatore S, Russo MT, D'Agostino VG, Barone F, Matsumoto Y, Albertini AM, Minoprio A, Degan P, Mazzei F, Bignami M, Ranzani GN.

Hum Mutat. 2010 Feb;31(2):159-66. doi: 10.1002/humu.21158.


First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes.

Morak M, Massdorf T, Sykora H, Kerscher M, Holinski-Feder E.

Eur J Cancer. 2011 May;47(7):1046-55. doi: 10.1016/j.ejca.2010.11.016. Epub 2010 Dec 30.


Alterations of the base excision repair gene MUTYH in sporadic colorectal cancer.

Kuno T, Matsubara N, Tsuda S, Kobayashi M, Hamanaka M, Yamagishi D, Tsukamoto K, Yamano T, Noda M, Ikeuchi H, Kim S, Tamura K, Tomita N.

Oncol Rep. 2012 Aug;28(2):473-80. doi: 10.3892/or.2012.1836. Epub 2012 May 25.


Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer.

Shinmura K, Goto M, Tao H, Kato H, Suzuki R, Nakamura S, Matsuda T, Yin G, Morita M, Kono S, Sugimura H.

Oxid Med Cell Longev. 2014;2014:617351. doi: 10.1155/2014/617351. Epub 2014 Mar 23.


Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells.

Raetz AG, Xie Y, Kundu S, Brinkmeyer MK, Chang C, David SS.

Carcinogenesis. 2012 Nov;33(11):2301-9. doi: 10.1093/carcin/bgs270. Epub 2012 Aug 26.


[Inherited mutations of MUTYH and colorectal cancer].

Zhou HH.

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2007 Jul;36(4):406-11. Review. Chinese.


MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing.

Cheadle JP, Sampson JR.

DNA Repair (Amst). 2007 Mar 1;6(3):274-9. Epub 2006 Dec 11. Review.


Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair.

Parker AR, Sieber OM, Shi C, Hua L, Takao M, Tomlinson IP, Eshleman JR.

Carcinogenesis. 2005 Nov;26(11):2010-8. Epub 2005 Jun 29.


Oxidative DNA damage drives carcinogenesis in MUTYH-associated-polyposis by specific mutations of mitochondrial and MAPK genes.

Venesio T, Balsamo A, Errichiello E, Ranzani GN, Risio M.

Mod Pathol. 2013 Oct;26(10):1371-81. doi: 10.1038/modpathol.2013.66. Epub 2013 Apr 19.


Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil.

Pitroski CE, Cossio SL, Koehler-Santos P, Graudenz M, Prolla JC, Ashton-Prolla P.

Int J Colorectal Dis. 2011 Jul;26(7):841-6. doi: 10.1007/s00384-011-1172-1. Epub 2011 Mar 22.


Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.

Dallosso AR, Dolwani S, Jones N, Jones S, Colley J, Maynard J, Idziaszczyk S, Humphreys V, Arnold J, Donaldson A, Eccles D, Ellis A, Evans DG, Frayling IM, Hes FJ, Houlston RS, Maher ER, Nielsen M, Parry S, Tyler E, Moskvina V, Cheadle JP, Sampson JR.

Gut. 2008 Sep;57(9):1252-5. doi: 10.1136/gut.2007.145748. Epub 2008 May 30.


Role of MUTYH and MSH2 in the control of oxidative DNA damage, genetic instability, and tumorigenesis.

Russo MT, De Luca G, Casorelli I, Degan P, Molatore S, Barone F, Mazzei F, Pannellini T, Musiani P, Bignami M.

Cancer Res. 2009 May 15;69(10):4372-9. doi: 10.1158/0008-5472.CAN-08-3292. Epub 2009 May 12.

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