메뉴 건너뛰기




Volumn 14, Issue 5, 2012, Pages

MUTYH hotspot mutations in unselected colonoscopy patients

Author keywords

Colorectal adenomas; Genetic testing; Hereditary colorectal cancer; MutY human homologue; MUTYH associated polyposis

Indexed keywords

DNA GLYCOSYLASE MUTY;

EID: 84859250601     PISSN: 14628910     EISSN: 14631318     Source Type: Journal    
DOI: 10.1111/j.1463-1318.2012.02920.x     Document Type: Article
Times cited : (11)

References (33)
  • 1
    • 0036478899 scopus 로고    scopus 로고
    • Inherited variants of MYH associated with somatic G:C - >T:A mutations in colorectal tumors
    • Al-Tassan N, Chmiel NH, Maynard J et al. Inherited variants of MYH associated with somatic G:C - >T:A mutations in colorectal tumors. Nat Genet 2002; 30: 227-32.
    • (2002) Nat Genet , vol.30 , pp. 227-232
    • Al-Tassan, N.1    Chmiel, N.H.2    Maynard, J.3
  • 2
    • 0037468517 scopus 로고    scopus 로고
    • Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH
    • Sieber OM, Lipton L, Crabtree M et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003; 348: 791-9.
    • (2003) N Engl J Med , vol.348 , pp. 791-799
    • Sieber, O.M.1    Lipton, L.2    Crabtree, M.3
  • 3
    • 33745903402 scopus 로고    scopus 로고
    • MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype
    • Aretz S, Uhlhaas S, Goergens H et al. MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer 2006; 119: 807-14.
    • (2006) Int J Cancer , vol.119 , pp. 807-814
    • Aretz, S.1    Uhlhaas, S.2    Goergens, H.3
  • 4
    • 33746775351 scopus 로고    scopus 로고
    • Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)
    • Nielsen M, Franken PF, Reinards TH et al. Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet 2005; 42: e54.
    • (2005) J Med Genet , vol.42
    • Nielsen, M.1    Franken, P.F.2    Reinards, T.H.3
  • 5
    • 33645454806 scopus 로고    scopus 로고
    • Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli
    • Aceto G, Cristina Curia M, Veschi S et al. Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. Hum Mutat 2005; 26: 394.
    • (2005) Hum Mutat , vol.26 , pp. 394
    • Aceto, G.1    Cristina Curia, M.2    Veschi, S.3
  • 6
    • 3242689475 scopus 로고    scopus 로고
    • MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps
    • Wang L, Baudhuin LM, Boardman LA et al. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology 2004; 127: 9-16.
    • (2004) Gastroenterology , vol.127 , pp. 9-16
    • Wang, L.1    Baudhuin, L.M.2    Boardman, L.A.3
  • 7
    • 62949228316 scopus 로고    scopus 로고
    • Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study
    • Cleary SP, Cotterchio M, Jenkins MA et al. Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. Gastroenterology 2009; 136: 1251-60.
    • (2009) Gastroenterology , vol.136 , pp. 1251-1260
    • Cleary, S.P.1    Cotterchio, M.2    Jenkins, M.A.3
  • 8
    • 77954426271 scopus 로고    scopus 로고
    • Adenoma development in a patient with MUTYH-associated polyposis (MAP): new insights into the natural course of polyp development
    • Casper M, Plotz G, Juengling B, Trojan J, Lammert F, Raedle J. Adenoma development in a patient with MUTYH-associated polyposis (MAP): new insights into the natural course of polyp development. Dig Dis Sci 2010; 55: 1711-5.
    • (2010) Dig Dis Sci , vol.55 , pp. 1711-1715
    • Casper, M.1    Plotz, G.2    Juengling, B.3    Trojan, J.4    Lammert, F.5    Raedle, J.6
  • 9
    • 54749151451 scopus 로고    scopus 로고
    • MUTYH associated polyposis (MAP)
    • Poulsen MLM, Bisgaard ML. MUTYH associated polyposis (MAP). Curr Genet 2008; 9: 420-35.
    • (2008) Curr Genet , vol.9 , pp. 420-435
    • Poulsen, M.L.M.1    Bisgaard, M.L.2
  • 10
    • 70649083240 scopus 로고    scopus 로고
    • Expanded extracolonic tumor spectrum in MUTYH-associated polyposis
    • Vogt S, Jones N, Christian D et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009; 137: 1976-85.
    • (2009) Gastroenterology , vol.137 , pp. 1976-1985
    • Vogt, S.1    Jones, N.2    Christian, D.3
  • 11
    • 69849112388 scopus 로고    scopus 로고
    • Clinical implications of the colorectal cancer risk associated with MUTYH mutation
    • Lubbe SJ, Bernardo MC, Chandler IP, Houlston RSC. Clinical implications of the colorectal cancer risk associated with MUTYH mutation. J Clin Oncol 2009; 27: 3975-80.
    • (2009) J Clin Oncol , vol.27 , pp. 3975-3980
    • Lubbe, S.J.1    Bernardo, M.C.2    Chandler, I.P.3    Houlston, R.S.C.4
  • 12
    • 7944225535 scopus 로고    scopus 로고
    • Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk
    • Croitoru ME, Cleary SP, Di Nicola N et al. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst 2004; 96: 1631-4.
    • (2004) J Natl Cancer Inst , vol.96 , pp. 1631-1634
    • Croitoru, M.E.1    Cleary, S.P.2    Di Nicola, N.3
  • 13
    • 20544452084 scopus 로고    scopus 로고
    • Germline susceptibility to colorectal cancer due to base-excision repair gene defects
    • Farrington SM, Tenesa A, Barnetson R et al. Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am J Hum Genet 2005; 77: 112-9.
    • (2005) Am J Hum Genet , vol.77 , pp. 112-119
    • Farrington, S.M.1    Tenesa, A.2    Barnetson, R.3
  • 14
    • 33750460975 scopus 로고    scopus 로고
    • Increased frequency of disease-causing MYH mutations in colon cancer families
    • Peterlongo P, Mitra N, Sanchez de Abajo A et al. Increased frequency of disease-causing MYH mutations in colon cancer families. Carcinogenesis 2006; 27: 2243-9.
    • (2006) Carcinogenesis , vol.27 , pp. 2243-2249
    • Peterlongo, P.1    Mitra, N.2    Sanchez de Abajo, A.3
  • 15
    • 44149127195 scopus 로고    scopus 로고
    • Contribution of common monoallelic MUTYH gene variants in German patients with familial colorectal cancer
    • Grünhage F, Jungck M, Lamberti C et al. Contribution of common monoallelic MUTYH gene variants in German patients with familial colorectal cancer. Cancer Biomark 2008; 4: 55-61.
    • (2008) Cancer Biomark , vol.4 , pp. 55-61
    • Grünhage, F.1    Jungck, M.2    Lamberti, C.3
  • 17
    • 0032526616 scopus 로고    scopus 로고
    • Mitochondrial targeting of human DNA glycosylases for repair of oxidative DNA damage
    • Takao M, Aburatani H, Kobayashi K, Yasui A. Mitochondrial targeting of human DNA glycosylases for repair of oxidative DNA damage. Nucleic Acids Res 1998; 26: 2917-22.
    • (1998) Nucleic Acids Res , vol.26 , pp. 2917-2922
    • Takao, M.1    Aburatani, H.2    Kobayashi, K.3    Yasui, A.4
  • 18
    • 10744220394 scopus 로고    scopus 로고
    • Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway
    • Lipton L, Halford SE, Johnson V et al. Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. Cancer Res 2003; 63: 7595-9.
    • (2003) Cancer Res , vol.63 , pp. 7595-7599
    • Lipton, L.1    Halford, S.E.2    Johnson, V.3
  • 19
    • 33744509162 scopus 로고    scopus 로고
    • Microsatellite stable colorectal cancers in clinically suspected Heriditary Nonpolyposis Colorectal Cancer parients without vertical transmission of disease are unlike to be caused by biallelic germline mutations in MYH
    • Görgens H, Krüger S, Kuhlisch E et al. Microsatellite stable colorectal cancers in clinically suspected Heriditary Nonpolyposis Colorectal Cancer parients without vertical transmission of disease are unlike to be caused by biallelic germline mutations in MYH. J Mol Diagn 2006; 8: 178-82.
    • (2006) J Mol Diagn , vol.8 , pp. 178-182
    • Görgens, H.1    Krüger, S.2    Kuhlisch, E.3
  • 20
    • 48549095660 scopus 로고    scopus 로고
    • Characterization of mutant MUTYH proteins associated with familial colorectal cancer
    • Ali M, Kim H, Cleary S, Gallinger S, Bristow R. Characterization of mutant MUTYH proteins associated with familial colorectal cancer. Gastroenterology 2008; 135: 499-507.
    • (2008) Gastroenterology , vol.135 , pp. 499-507
    • Ali, M.1    Kim, H.2    Cleary, S.3    Gallinger, S.4    Bristow, R.5
  • 21
    • 0038501052 scopus 로고    scopus 로고
    • Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH
    • Sampson JR, Dolwani S, Jones S et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 2003; 362: 39-41.
    • (2003) Lancet , vol.362 , pp. 39-41
    • Sampson, J.R.1    Dolwani, S.2    Jones, S.3
  • 22
    • 16644377955 scopus 로고    scopus 로고
    • Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas
    • Isidro G, Laranjeira F, Pires A et al. Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. Hum Mutat 2004; 24: 353-60.
    • (2004) Hum Mutat , vol.24 , pp. 353-360
    • Isidro, G.1    Laranjeira, F.2    Pires, A.3
  • 23
    • 58649111511 scopus 로고    scopus 로고
    • Analysis of MUTYH genotypes and colorectal phenotypes in patients with MUTYH-associated polyposis
    • Nielsen M, Joerink van de Beld M, Jones N et al. Analysis of MUTYH genotypes and colorectal phenotypes in patients with MUTYH-associated polyposis. Gastroenterology 2009; 136: 471-6.
    • (2009) Gastroenterology , vol.136 , pp. 471-476
    • Nielsen, M.1    Joerink van de Beld, M.2    Jones, N.3
  • 24
    • 32344444909 scopus 로고    scopus 로고
    • Twelve years of endoscopic surveillance in a family carrying biallelic Y165C MYH defect: report of a case
    • Fornasarig M, Minisini AM, Viel A, Quaia M, Canzonieri V, Veronesi A. Twelve years of endoscopic surveillance in a family carrying biallelic Y165C MYH defect: report of a case. Dis Colon Rectum 2006; 49: 272-5.
    • (2006) Dis Colon Rectum , vol.49 , pp. 272-275
    • Fornasarig, M.1    Minisini, A.M.2    Viel, A.3    Quaia, M.4    Canzonieri, V.5    Veronesi, A.6
  • 25
    • 0034671587 scopus 로고    scopus 로고
    • Adenine excisional repair function of MYH protein on the adenine:8-hydroxyguanine base pair in double-stranded DNA
    • Shinmura K, Yamaguchi S, Saitoh T et al. Adenine excisional repair function of MYH protein on the adenine:8-hydroxyguanine base pair in double-stranded DNA. Nucleic Acids Res 2000; 28: 4912-8.
    • (2000) Nucleic Acids Res , vol.28 , pp. 4912-4918
    • Shinmura, K.1    Yamaguchi, S.2    Saitoh, T.3
  • 26
    • 77949487616 scopus 로고    scopus 로고
    • Common variants in human CRC genes as low-risk alleles
    • Picelli S, Zajoc P, Zhou XL et al. Common variants in human CRC genes as low-risk alleles. Eur J Cancer 2010; 46: 1041-8.
    • (2010) Eur J Cancer , vol.46 , pp. 1041-1048
    • Picelli, S.1    Zajoc, P.2    Zhou, X.L.3
  • 27
    • 33645244368 scopus 로고    scopus 로고
    • Prevalence of MYH germline mutations in Swiss APC-negative polyposis patients
    • Russell AM, Zhang J, Luz J et al. Prevalence of MYH germline mutations in Swiss APC-negative polyposis patients. Int J Cancer 2006; 118: 1937-40.
    • (2006) Int J Cancer , vol.118 , pp. 1937-1940
    • Russell, A.M.1    Zhang, J.2    Luz, J.3
  • 28
    • 78650005336 scopus 로고    scopus 로고
    • A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants
    • Theodoratou E, Campbell H, Tenesa A et al. A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. Br J Cancer 2010; 103: 1875-84.
    • (2010) Br J Cancer , vol.103 , pp. 1875-1884
    • Theodoratou, E.1    Campbell, H.2    Tenesa, A.3
  • 29
    • 3042599473 scopus 로고    scopus 로고
    • Inflammation and cancer IV. Colorectal cancer in inflammatory bowel disease: the role of inflammation
    • Itzkowitz SH, Yio X. Inflammation and cancer IV. Colorectal cancer in inflammatory bowel disease: the role of inflammation. Am J Physiol Gastrointest Liver Physiol 2004; 287: G7-17.
    • (2004) Am J Physiol Gastrointest Liver Physiol , vol.287
    • Itzkowitz, S.H.1    Yio, X.2
  • 30
    • 68849121037 scopus 로고    scopus 로고
    • Altered expression of MUTYH and an increase in 8-hydroxydeoxyguanosine are early events in ulcerative colitis-associated carcinogenesis
    • Gushima M, Hirahashi M, Matsumoto T et al. Altered expression of MUTYH and an increase in 8-hydroxydeoxyguanosine are early events in ulcerative colitis-associated carcinogenesis. J Pathol 2009; 219: 77-86.
    • (2009) J Pathol , vol.219 , pp. 77-86
    • Gushima, M.1    Hirahashi, M.2    Matsumoto, T.3
  • 31
    • 84859597255 scopus 로고    scopus 로고
    • Evidence for accelerated colorectal adenoma-carcinoma progression in MUTYH-associated polyposis?
    • doi:
    • Nieuwenhuis MH, Vogt S, Jones N et al. Evidence for accelerated colorectal adenoma-carcinoma progression in MUTYH-associated polyposis? Gut 2011. doi:.
    • (2011) Gut
    • Nieuwenhuis, M.H.1    Vogt, S.2    Jones, N.3
  • 32
    • 79851493086 scopus 로고    scopus 로고
    • Effect of direct-to-consumer genomewide profiling to assess disease risk
    • Bloss CS, Schork NJ, Topol EJ. Effect of direct-to-consumer genomewide profiling to assess disease risk. NEJM 2011; 364: 524-34.
    • (2011) NEJM , vol.364 , pp. 524-534
    • Bloss, C.S.1    Schork, N.J.2    Topol, E.J.3
  • 33
    • 42549165647 scopus 로고    scopus 로고
    • Guidelines for the clinical management of familial adenomatous polyposis (FAP)
    • Vasen HF, Möslein G, Alonso A et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008; 57: 704-13.
    • (2008) Gut , vol.57 , pp. 704-713
    • Vasen, H.F.1    Möslein, G.2    Alonso, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.