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Volumn 18, Issue 4, 2009, Pages 599-610

MUTYH-Associated Polyposis and Colorectal Cancer

Author keywords

Base excision repair; Colorectal cancer; Genetic; MUTYH; Polyposis; Susceptibility

Indexed keywords

APC PROTEIN; BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; DNA GLYCOSYLASE MUTY; PROTEIN KINASE LKB1; PROTEIN MSH6; PROTEIN MUTS; SMAD4 PROTEIN;

EID: 70349452209     PISSN: 10553207     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.soc.2009.08.003     Document Type: Review
Times cited : (9)

References (42)
  • 1
    • 0034538160 scopus 로고    scopus 로고
    • Population carrier frequency of hMSH2 and hMLH1 mutations
    • Dunlop M.G., Farrington S.M., Nicholl I., et al. Population carrier frequency of hMSH2 and hMLH1 mutations. Br J Cancer 83 12 (2000) 1643-1645
    • (2000) Br J Cancer , vol.83 , Issue.12 , pp. 1643-1645
    • Dunlop, M.G.1    Farrington, S.M.2    Nicholl, I.3
  • 2
    • 33846332027 scopus 로고    scopus 로고
    • Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors
    • Aaltonen L., Johns L., Jarvinen H., et al. Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors. Clin Cancer Res 13 1 (2007) 356-361
    • (2007) Clin Cancer Res , vol.13 , Issue.1 , pp. 356-361
    • Aaltonen, L.1    Johns, L.2    Jarvinen, H.3
  • 3
    • 0037058317 scopus 로고    scopus 로고
    • After hMSH2 and hMLH1-what next? Analysis of three-generational, population-based, early-onset colorectal cancer families
    • Jenkins M.A., Baglietto L., Dite G.S., et al. After hMSH2 and hMLH1-what next? Analysis of three-generational, population-based, early-onset colorectal cancer families. Int J Cancer 102 2 (2002) 166-171
    • (2002) Int J Cancer , vol.102 , Issue.2 , pp. 166-171
    • Jenkins, M.A.1    Baglietto, L.2    Dite, G.S.3
  • 4
    • 69849112388 scopus 로고    scopus 로고
    • Clinical implications of the colorectal cancer risk associated with MUTYH mutation
    • Lubbe S.J., Di Bernardo M.C., Chandler I.P., et al. Clinical implications of the colorectal cancer risk associated with MUTYH mutation. J Clin Oncol 27 24 (2009) 3975-3980
    • (2009) J Clin Oncol , vol.27 , Issue.24 , pp. 3975-3980
    • Lubbe, S.J.1    Di Bernardo, M.C.2    Chandler, I.P.3
  • 5
    • 67349245787 scopus 로고    scopus 로고
    • New insights into the aetiology of colorectal cancer from genome-wide association studies
    • [Epub ahead of print]
    • Tenesa A., and Dunlop M.G. New insights into the aetiology of colorectal cancer from genome-wide association studies. Nat Rev Genet (May 12, 2009) [Epub ahead of print]
    • (2009) Nat Rev Genet
    • Tenesa, A.1    Dunlop, M.G.2
  • 6
    • 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.C., Jones N., et al. Analysis of MUTYH genotypes and colorectal phenotypes in patients with MUTYH-associated polyposis. Gastroenterology 136 2 (2009) 471-476
    • (2009) Gastroenterology , vol.136 , Issue.2 , pp. 471-476
    • Nielsen, M.1    Joerink-van de Beld, M.C.2    Jones, N.3
  • 7
    • 62949228316 scopus 로고    scopus 로고
    • Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study
    • Cleary S.P., Cotterchio M., Jenkins M.A., et al. Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. Gastroenterology 136 4 (2009) 1251-1260
    • (2009) Gastroenterology , vol.136 , Issue.4 , pp. 1251-1260
    • Cleary, S.P.1    Cotterchio, M.2    Jenkins, M.A.3
  • 8
    • 33745920193 scopus 로고    scopus 로고
    • Association of MUTYH and colorectal cancer
    • Tenesa A., Campbell H., Barnetson R., et al. Association of MUTYH and colorectal cancer. Br J Cancer 95 2 (2006) 239-242
    • (2006) Br J Cancer , vol.95 , Issue.2 , pp. 239-242
    • Tenesa, A.1    Campbell, H.2    Barnetson, R.3
  • 9
    • 0036478899 scopus 로고    scopus 로고
    • Inherited variants of MYH associated with somatic G:C->T:A mutations in colorectal tumors
    • Al-Tassan N., Chmiel N.H., Maynard J., et al. Inherited variants of MYH associated with somatic G:C->T:A mutations in colorectal tumors. Nat Genet 30 2 (2002) 227-232
    • (2002) Nat Genet , vol.30 , Issue.2 , pp. 227-232
    • Al-Tassan, N.1    Chmiel, N.H.2    Maynard, J.3
  • 10
    • 0036848267 scopus 로고    scopus 로고
    • Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C->T:A mutations
    • Jones S., Emmerson P., Maynard J., et al. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C->T:A mutations. Hum Mol Genet 11 23 (2002) 2961-2967
    • (2002) Hum Mol Genet , vol.11 , Issue.23 , pp. 2961-2967
    • Jones, S.1    Emmerson, P.2    Maynard, J.3
  • 11
    • 0038501052 scopus 로고    scopus 로고
    • Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH
    • Sampson J.R., Dolwani S., Jones S., et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 362 9377 (2003) 39-41
    • (2003) Lancet , vol.362 , Issue.9377 , pp. 39-41
    • Sampson, J.R.1    Dolwani, S.2    Jones, S.3
  • 12
    • 54749151451 scopus 로고    scopus 로고
    • MUTYH Associated Polyposis (MAP)
    • Poulsen M.L., and Bisgaard M.L. MUTYH Associated Polyposis (MAP). Curr Genomics 9 6 (2008) 420-435
    • (2008) Curr Genomics , vol.9 , Issue.6 , pp. 420-435
    • Poulsen, M.L.1    Bisgaard, M.L.2
  • 13
    • 0037468517 scopus 로고    scopus 로고
    • Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH
    • Sieber O.M., Lipton L., Crabtree M., et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 348 9 (2003) 791-799
    • (2003) N Engl J Med , vol.348 , Issue.9 , pp. 791-799
    • Sieber, O.M.1    Lipton, L.2    Crabtree, M.3
  • 14
    • 2942538325 scopus 로고    scopus 로고
    • High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis
    • Venesio T., Molatore S., Cattaneo F., et al. High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis. Gastroenterology 126 7 (2004) 1681-1685
    • (2004) Gastroenterology , vol.126 , Issue.7 , pp. 1681-1685
    • Venesio, T.1    Molatore, S.2    Cattaneo, F.3
  • 15
    • 7944225535 scopus 로고    scopus 로고
    • Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk
    • Croitoru M.E., Cleary S.P., Di Nicola N., et al. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst 96 21 (2004) 1631-1634
    • (2004) J Natl Cancer Inst , vol.96 , Issue.21 , pp. 1631-1634
    • Croitoru, M.E.1    Cleary, S.P.2    Di Nicola, N.3
  • 16
    • 0041423452 scopus 로고    scopus 로고
    • Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients
    • Enholm S., Hienonen T., Suomalainen A., et al. Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients. Am J Pathol 163 3 (2003) 827-832
    • (2003) Am J Pathol , vol.163 , Issue.3 , pp. 827-832
    • Enholm, S.1    Hienonen, T.2    Suomalainen, A.3
  • 17
    • 20544452084 scopus 로고    scopus 로고
    • Germline susceptibility to colorectal cancer due to base-excision repair gene defects
    • Farrington S.M., Tenesa A., Barnetson R., et al. Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am J Hum Genet 77 1 (2005) 112-119
    • (2005) Am J Hum Genet , vol.77 , Issue.1 , pp. 112-119
    • Farrington, S.M.1    Tenesa, A.2    Barnetson, R.3
  • 18
    • 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 L.M., Boardman L.A., et al. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology 127 1 (2004) 9-16
    • (2004) Gastroenterology , vol.127 , Issue.1 , pp. 9-16
    • Wang, L.1    Baudhuin, L.M.2    Boardman, L.A.3
  • 19
    • 50249128854 scopus 로고    scopus 로고
    • Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3
    • Dallosso A.R., Dolwani S., Jones N., et al. Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Gut 57 9 (2008) 1252-1255
    • (2008) Gut , vol.57 , Issue.9 , pp. 1252-1255
    • Dallosso, A.R.1    Dolwani, S.2    Jones, N.3
  • 20
    • 34250900982 scopus 로고    scopus 로고
    • Base-excision repair of oxidative DNA damage
    • David S.S., O'Shea V.L., and Kundu S. Base-excision repair of oxidative DNA damage. Nature 447 7147 (2007) 941-950
    • (2007) Nature , vol.447 , Issue.7147 , pp. 941-950
    • David, S.S.1    O'Shea, V.L.2    Kundu, S.3
  • 21
    • 0037040962 scopus 로고    scopus 로고
    • Activation of human MutS homologs by 8-oxo-guanine DNA damage
    • Mazurek A., Berardini M., and Fishel R. Activation of human MutS homologs by 8-oxo-guanine DNA damage. J Biol Chem 277 10 (2002) 8260-8266
    • (2002) J Biol Chem , vol.277 , Issue.10 , pp. 8260-8266
    • Mazurek, A.1    Berardini, M.2    Fishel, R.3
  • 22
    • 0037192812 scopus 로고    scopus 로고
    • Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6
    • Gu Y., Parker A., Wilson T.M., et al. Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6. J Biol Chem 277 13 (2002) 11135-11142
    • (2002) J Biol Chem , vol.277 , Issue.13 , pp. 11135-11142
    • Gu, Y.1    Parker, A.2    Wilson, T.M.3
  • 23
    • 0037018846 scopus 로고    scopus 로고
    • The mammalian mismatch repair pathway removes DNA 8-oxodGMP incorporated from the oxidized dNTP pool
    • Colussi C., Parlanti E., Degan P., et al. The mammalian mismatch repair pathway removes DNA 8-oxodGMP incorporated from the oxidized dNTP pool. Curr Biol 12 11 (2002) 912-918
    • (2002) Curr Biol , vol.12 , Issue.11 , pp. 912-918
    • Colussi, C.1    Parlanti, E.2    Degan, P.3
  • 24
    • 33847333956 scopus 로고    scopus 로고
    • MUTYH-associated polyposis-from defect in base excision repair to clinical genetic testing
    • Cheadle J.P., and Sampson J.R. MUTYH-associated polyposis-from defect in base excision repair to clinical genetic testing. DNA Repair (Amst) 6 3 (2007) 274-279
    • (2007) DNA Repair (Amst) , vol.6 , Issue.3 , pp. 274-279
    • Cheadle, J.P.1    Sampson, J.R.2
  • 25
    • 11144355687 scopus 로고    scopus 로고
    • Role of inherited defects of MYH in the development of sporadic colorectal cancer
    • Kambara T., Whitehall V.L., Spring K.J., et al. Role of inherited defects of MYH in the development of sporadic colorectal cancer. Genes Chromosomes Cancer 40 1 (2004) 1-9
    • (2004) Genes Chromosomes Cancer , vol.40 , Issue.1 , pp. 1-9
    • Kambara, T.1    Whitehall, V.L.2    Spring, K.J.3
  • 26
    • 10744220394 scopus 로고    scopus 로고
    • Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway
    • Lipton L., Halford S.E., Johnson V., et al. Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. Cancer Res 63 22 (2003) 7595-7599
    • (2003) Cancer Res , vol.63 , Issue.22 , pp. 7595-7599
    • Lipton, L.1    Halford, S.E.2    Johnson, V.3
  • 27
    • 33644747476 scopus 로고    scopus 로고
    • Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study
    • Jenkins M.A., Croitoru M.E., Monga N., et al. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev 15 2 (2006) 312-314
    • (2006) Cancer Epidemiol Biomarkers Prev , vol.15 , Issue.2 , pp. 312-314
    • Jenkins, M.A.1    Croitoru, M.E.2    Monga, N.3
  • 28
    • 67650979375 scopus 로고    scopus 로고
    • Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH
    • 494.e1; quiz 725-486
    • Jones N., Vogt S., Nielsen M., et al. Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology 137 2 (2009) 489-494 494.e1; quiz 725-486
    • (2009) Gastroenterology , vol.137 , Issue.2 , pp. 489-494
    • Jones, N.1    Vogt, S.2    Nielsen, M.3
  • 29
    • 10844274799 scopus 로고    scopus 로고
    • Myh deficiency enhances intestinal tumorigenesis in multiple intestinal neoplasia (ApcMin/+) mice
    • Sieber O.M., Howarth K.M., Thirlwell C., et al. Myh deficiency enhances intestinal tumorigenesis in multiple intestinal neoplasia (ApcMin/+) mice. Cancer Res 64 24 (2004) 8876-8881
    • (2004) Cancer Res , vol.64 , Issue.24 , pp. 8876-8881
    • Sieber, O.M.1    Howarth, K.M.2    Thirlwell, C.3
  • 30
    • 47749140060 scopus 로고    scopus 로고
    • Pathological features of colorectal carcinomas in MYH-associated polyposis
    • O'Shea A.M., Cleary S.P., Croitoru M.A., et al. Pathological features of colorectal carcinomas in MYH-associated polyposis. Histopathology 53 2 (2008) 184-194
    • (2008) Histopathology , vol.53 , Issue.2 , pp. 184-194
    • O'Shea, A.M.1    Cleary, S.P.2    Croitoru, M.A.3
  • 31
    • 12144289614 scopus 로고    scopus 로고
    • Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas
    • Gismondi V., Meta M., Bonelli L., et al. Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. Int J Cancer 109 5 (2004) 680-684
    • (2004) Int J Cancer , vol.109 , Issue.5 , pp. 680-684
    • Gismondi, V.1    Meta, M.2    Bonelli, L.3
  • 32
    • 27744462223 scopus 로고    scopus 로고
    • Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair
    • Parker A.R., Sieber O.M., Shi C., et al. Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair. Carcinogenesis 26 11 (2005) 2010-2018
    • (2005) Carcinogenesis , vol.26 , Issue.11 , pp. 2010-2018
    • Parker, A.R.1    Sieber, O.M.2    Shi, C.3
  • 33
    • 42549165647 scopus 로고    scopus 로고
    • Guidelines for the clinical management of familial adenomatous polyposis (FAP)
    • Vasen H.F., Moslein G., Alonso A., et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57 5 (2008) 704-713
    • (2008) Gut , vol.57 , Issue.5 , pp. 704-713
    • Vasen, H.F.1    Moslein, G.2    Alonso, A.3
  • 34
    • 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 119 4 (2006) 807-814
    • (2006) Int J Cancer , vol.119 , Issue.4 , pp. 807-814
    • Aretz, S.1    Uhlhaas, S.2    Goergens, H.3
  • 35
    • 33751208621 scopus 로고    scopus 로고
    • Duodenal carcinoma in MUTYH-associated polyposis
    • Nielsen M., Poley J.W., Verhoef S., et al. Duodenal carcinoma in MUTYH-associated polyposis. J Clin Pathol 59 11 (2006) 1212-1215
    • (2006) J Clin Pathol , vol.59 , Issue.11 , pp. 1212-1215
    • Nielsen, M.1    Poley, J.W.2    Verhoef, S.3
  • 36
    • 66849091419 scopus 로고    scopus 로고
    • Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor: report of a case
    • de Ferro S.M., Suspiro A., Fidalgo P., et al. Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor: report of a case. Dis Colon Rectum 52 4 (2009) 742-745
    • (2009) Dis Colon Rectum , vol.52 , Issue.4 , pp. 742-745
    • de Ferro, S.M.1    Suspiro, A.2    Fidalgo, P.3
  • 37
    • 34147217174 scopus 로고    scopus 로고
    • Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer
    • Dolwani S., Williams G.T., West K.P., et al. Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer. Gut 56 4 (2007) 593
    • (2007) Gut , vol.56 , Issue.4 , pp. 593
    • Dolwani, S.1    Williams, G.T.2    West, K.P.3
  • 38
    • 21244441064 scopus 로고    scopus 로고
    • Is prophylactic colectomy indicated in patients with MYH-associated polyposis?
    • Leite J.S., Isidro G., Martins M., et al. Is prophylactic colectomy indicated in patients with MYH-associated polyposis?. Colorectal Dis 7 4 (2005) 327-331
    • (2005) Colorectal Dis , vol.7 , Issue.4 , pp. 327-331
    • Leite, J.S.1    Isidro, G.2    Martins, M.3
  • 39
    • 33947545402 scopus 로고    scopus 로고
    • The use of aspirin for primary prevention of colorectal cancer: a systematic review prepared for the U.S. Preventive Services Task Force
    • Dube C., Rostom A., Lewin G., et al. The use of aspirin for primary prevention of colorectal cancer: a systematic review prepared for the U.S. Preventive Services Task Force. Ann Intern Med 146 5 (2007) 365-375
    • (2007) Ann Intern Med , vol.146 , Issue.5 , pp. 365-375
    • Dube, C.1    Rostom, A.2    Lewin, G.3
  • 40
    • 68849123400 scopus 로고    scopus 로고
    • Aspirin use and survival after diagnosis of colorectal cancer
    • Chan A.T., Ogino S., and Fuchs C.S. Aspirin use and survival after diagnosis of colorectal cancer. JAMA 302 6 (2009) 649-658
    • (2009) JAMA , vol.302 , Issue.6 , pp. 649-658
    • Chan, A.T.1    Ogino, S.2    Fuchs, C.S.3
  • 41
    • 57749107623 scopus 로고    scopus 로고
    • Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome
    • Burn J., Bishop D.T., Mecklin J.P., et al. Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. N Engl J Med 359 24 (2008) 2567-2578
    • (2008) N Engl J Med , vol.359 , Issue.24 , pp. 2567-2578
    • Burn, J.1    Bishop, D.T.2    Mecklin, J.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.