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Items: 1 to 20 of 67

1.

Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype.

Seguí N, Navarro M, Pineda M, Köger N, Bellido F, González S, Campos O, Iglesias S, Valdés-Mas R, López-Doriga A, Gut M, Blanco I, Lázaro C, Capellá G, Puente XS, Plotz G, Valle L.

Gut. 2015 Feb;64(2):355-6. doi: 10.1136/gutjnl-2014-307084. Epub 2014 Apr 1. No abstract available.

PMID:
24691292
2.

Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.

Lejeune S, Guillemot F, Triboulet JP, Cattan S, Mouton C; PAFNORD Group, Porchet N, Manouvrier S, Buisine MP.

Hum Mutat. 2006 Oct;27(10):1064.

PMID:
16941501
3.

Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis.

De Rosa M, Galatola M, Borriello S, Duraturo F, Masone S, Izzo P.

Dis Colon Rectum. 2009 Feb;52(2):268-74. doi: 10.1007/DCR.0b013e318197d15c.

PMID:
19279422
4.

Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.

Knopperts AP, Nielsen M, Niessen RC, Tops CM, Jorritsma B, Varkevisser J, Wijnen J, Siezen CL, Heine-Bröring RC, van Kranen HJ, Vos YJ, Westers H, Kampman E, Sijmons RH, Hes FJ.

Fam Cancer. 2013 Mar;12(1):43-50. doi: 10.1007/s10689-012-9570-2. Review.

PMID:
23007840
5.

MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.

Morak M, Laner A, Bacher U, Keiling C, Holinski-Feder E.

Clin Genet. 2010 Oct;78(4):353-63. doi: 10.1111/j.1399-0004.2010.01478.x.

PMID:
20618354
6.

APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.

Filipe B, Baltazar C, Albuquerque C, Fragoso S, Lage P, Vitoriano I, Mão de Ferro S, Claro I, Rodrigues P, Fidalgo P, Chaves P, Cravo M, Nobre Leitão C.

Clin Genet. 2009 Sep;76(3):242-55. doi: 10.1111/j.1399-0004.2009.01241.x.

PMID:
19793053
7.

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.

PMID:
21424714
8.

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.

9.

Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer.

Wasielewski M, Out AA, Vermeulen J, Nielsen M, van den Ouweland A, Tops CM, Wijnen JT, Vasen HF, Weiss MM, Klijn JG, Devilee P, Hes FJ, Schutte M.

Breast Cancer Res Treat. 2010 Dec;124(3):635-41. doi: 10.1007/s10549-010-0801-7. Epub 2010 Feb 27.

PMID:
20191381
10.

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).

Hegde M, Ferber M, Mao R, Samowitz W, Ganguly A; Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee.

Genet Med. 2014 Jan;16(1):101-16. doi: 10.1038/gim.2013.166. Epub 2013 Dec 5.

PMID:
24310308
11.

MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.

Zorcolo L, Fantola G, Balestrino L, Restivo A, Vivanet C, Spina F, Cabras F, Ambu R, Casula G.

Tumori. 2011 Sep-Oct;97(5):676-80. doi: 10.1700/989.10731. Review.

12.

Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis.

Cattaneo F, Molatore S, Mihalatos M, Apessos A, Venesio T, Bione S, Grignani P, Nasioulas G, Ranzani GN.

Genet Med. 2007 Dec;9(12):836-41.

PMID:
18091433
13.

Relative role of APC and MUTYH mutations in the pathogenesis of familial adenomatous polyposis.

Pezzi A, Roncucci L, Benatti P, Sassatelli R, Varesco L, Di Gregorio C, Venesio T, Pedroni M, Maffei S, Reggiani Bonetti L, Borsi E, Ferrari M, Martella P, Rossi G, Ponz De Leon M.

Scand J Gastroenterol. 2009;44(9):1092-100. doi: 10.1080/00365520903100481.

PMID:
19593690
14.

The first mutations in the MYH gene reported in Moroccan colon cancer patients.

Laarabi FZ, Cherkaoui Jaouad I, Baert-Desurmont S, Ouldim K, Ibrahimi A, Kanouni N, Frebourg T, Sefiani A.

Gene. 2012 Mar 15;496(1):55-8. doi: 10.1016/j.gene.2011.12.024. Epub 2012 Jan 10.

PMID:
22266422
15.

Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.

Nielsen M, Hes FJ, Nagengast FM, Weiss MM, Mathus-Vliegen EM, Morreau H, Breuning MH, Wijnen JT, Tops CM, Vasen HF.

Clin Genet. 2007 May;71(5):427-33.

PMID:
17489848
16.

MUTYH-associated polyposis.

Sampson JR, Jones N.

Best Pract Res Clin Gastroenterol. 2009;23(2):209-18. doi: 10.1016/j.bpg.2009.03.006. Review.

PMID:
19414147
17.

Clinical and molecular features of attenuated adenomatous polyposis in northern Italy.

de Leon MP, Urso ED, Pucciarelli S, Agostini M, Nitti D, Roncucci L, Benatti P, Pedroni M, Kaleci S, Balsamo A, Laudi C, Di Gregorio C, Viel A, Rossi G, Venesio T.

Tech Coloproctol. 2013 Feb;17(1):79-87. doi: 10.1007/s10151-012-0887-5. Epub 2012 Sep 14.

PMID:
22976915
18.

Investigation of APC mutations in a Turkish familial adenomatous polyposis family by heterodublex analysis.

Tunca B, Menigatti M, Benatti P, Egeli U, Cecener G, Pedroni M, Scarselli A, Borghi F, Sala E, Yilmazlar T, Zorluoglu A, Yerci O, de Leon MP.

Dis Colon Rectum. 2005 Mar;48(3):567-71.

PMID:
15719192
19.

Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis.

Burt RW, Leppert MF, Slattery ML, Samowitz WS, Spirio LN, Kerber RA, Kuwada SK, Neklason DW, Disario JA, Lyon E, Hughes JP, Chey WY, White RL.

Gastroenterology. 2004 Aug;127(2):444-51.

PMID:
15300576
20.

MUTYH hotspot mutations in unselected colonoscopy patients.

Casper M, Plotz G, Juengling B, Zeuzem S, Lammert F, Raedle J.

Colorectal Dis. 2012 May;14(5):e238-44. doi: 10.1111/j.1463-1318.2012.02920.x.

PMID:
22469480

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