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Volumn 50, Issue 13, 2014, Pages 2241-2250

Prevalence of germline MUTYH mutations among Lynch-like syndrome patients

(28)  Castillejo, Adela a   Vargas, Gardenia b   Castillejo, María Isabel a   Navarro, Matilde b   Barberá, Víctor Manuel a   González, Sara b   Hernández Illán, Eva c   Brunet, Joan d   Ramón Y Cajal, Teresa e   Balmaña, Judith f   Oltra, Silvestre g   Iglesias, Sílvia b   Velasco, Àngela d   Solanes, Ares h   Campos, Olga b   Sánchez Heras, Ana Beatriz i,j   Gallego, Javier j   Carrasco, Estela k   González Juan, Dolors e   Segura, Ángel g   more..


Author keywords

KRAS mutations; Lynch syndrome; MAP syndrome; MUTYH

Indexed keywords

DNA GLYCOSYLASE MUTY; K RAS PROTEIN; DNA GLYCOSYLTRANSFERASE; KRAS PROTEIN, HUMAN; ONCOPROTEIN; RAS PROTEIN;

EID: 84905126480     PISSN: 09598049     EISSN: 18790852     Source Type: Journal    
DOI: 10.1016/j.ejca.2014.05.022     Document Type: Article
Times cited : (70)

References (40)
  • 1
    • 46449092873 scopus 로고    scopus 로고
    • Hereditary colorectal cancer syndromes: Molecular genetics, genetic counseling, diagnosis and management
    • H.T. Lynch, J.F. Lynch, P.M. Lynch, and T. Attard Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management Fam Cancer 7 1 2008 27 39
    • (2008) Fam Cancer , vol.7 , Issue.1 , pp. 27-39
    • Lynch, H.T.1    Lynch, J.F.2    Lynch, P.M.3    Attard, T.4
  • 2
    • 84880922941 scopus 로고    scopus 로고
    • A hundred years of Lynch syndrome research (1913-2013)
    • H.F. Vasen, and W.H. de Vos Tot Nederveen Cappel A hundred years of Lynch syndrome research (1913-2013) Fam Cancer 12 2 2013 141 142
    • (2013) Fam Cancer , vol.12 , Issue.2 , pp. 141-142
    • Vasen, H.F.1    De Vos Tot Nederveen Cappel, W.H.2
  • 3
    • 77954367535 scopus 로고    scopus 로고
    • Methylation analysis of MLH1 improves the selection of patients for genetic testing in Lynch syndrome
    • L. Perez-Carbonell, C. Alenda, and A. Paya et al. Methylation analysis of MLH1 improves the selection of patients for genetic testing in Lynch syndrome J Mol Diagn 12 4 2010 498 504
    • (2010) J Mol Diagn , vol.12 , Issue.4 , pp. 498-504
    • Perez-Carbonell, L.1    Alenda, C.2    Paya, A.3
  • 4
    • 84863716549 scopus 로고    scopus 로고
    • MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: A cost-effectiveness study
    • M. Gausachs, P. Mur, and J. Corral et al. MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study Eur J Hum Genet 20 7 2012 762 768
    • (2012) Eur J Hum Genet , vol.20 , Issue.7 , pp. 762-768
    • Gausachs, M.1    Mur, P.2    Corral, J.3
  • 5
    • 84867499525 scopus 로고    scopus 로고
    • Identification of Lynch syndrome among patients with colorectal cancer
    • L. Moreira, F. Balaguer, and N. Lindor et al. Identification of Lynch syndrome among patients with colorectal cancer JAMA 308 15 2012 1555 1565
    • (2012) JAMA , vol.308 , Issue.15 , pp. 1555-1565
    • Moreira, L.1    Balaguer, F.2    Lindor, N.3
  • 6
    • 0033591855 scopus 로고    scopus 로고
    • Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: Implications for clinical predisposition testing
    • S. Syngal, E.A. Fox, and C. Li et al. Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing JAMA 282 3 1999 247 253
    • (1999) JAMA , vol.282 , Issue.3 , pp. 247-253
    • Syngal, S.1    Fox, E.A.2    Li, C.3
  • 7
    • 16644378293 scopus 로고    scopus 로고
    • Refining the Amsterdam Criteria and Bethesda Guidelines: Testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic
    • L.R. Lipton, V. Johnson, and C. Cummings et al. Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic J Clin Oncol 22 24 2004 4934 4943
    • (2004) J Clin Oncol , vol.22 , Issue.24 , pp. 4934-4943
    • Lipton, L.R.1    Johnson, V.2    Cummings, C.3
  • 8
    • 22944433733 scopus 로고    scopus 로고
    • Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1721 German families suspected of hereditary nonpolyposis colorectal cancer
    • E. Mangold, C. Pagenstecher, and W. Friedl et al. Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1721 German families suspected of hereditary nonpolyposis colorectal cancer Int J Cancer 116 5 2005 692 702
    • (2005) Int J Cancer , vol.116 , Issue.5 , pp. 692-702
    • Mangold, E.1    Pagenstecher, C.2    Friedl, W.3
  • 9
    • 33847789751 scopus 로고    scopus 로고
    • Toward a consensus in molecular diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome)
    • H.T. Lynch, J.F. Lynch, and P.M. Lynch Toward a consensus in molecular diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome) J Natl Cancer Inst 99 4 2007 261 263
    • (2007) J Natl Cancer Inst , vol.99 , Issue.4 , pp. 261-263
    • Lynch, H.T.1    Lynch, J.F.2    Lynch, P.M.3
  • 10
    • 70149086692 scopus 로고    scopus 로고
    • Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases
    • J. Mueller, I. Gazzoli, P. Bandipalliam, J.E. Garber, S. Syngal, and R.D. Kolodner Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases Cancer Res 69 17 2009 7053 7061
    • (2009) Cancer Res , vol.69 , Issue.17 , pp. 7053-7061
    • Mueller, J.1    Gazzoli, I.2    Bandipalliam, P.3    Garber, J.E.4    Syngal, S.5    Kolodner, R.D.6
  • 11
    • 84876492979 scopus 로고    scopus 로고
    • Risk of cancer in cases of suspected lynch syndrome without germline mutation
    • 926-32 e1; quiz e13-4
    • M. Rodriguez-Soler, L. Perez-Carbonell, and C. Guarinos et al. Risk of cancer in cases of suspected lynch syndrome without germline mutation Gastroenterology 144 5 2013 926-32 e1; quiz e13-4
    • (2013) Gastroenterology , vol.144 , Issue.5
    • Rodriguez-Soler, M.1    Perez-Carbonell, L.2    Guarinos, C.3
  • 12
    • 84952875436 scopus 로고
    • MUTYH-associated polyposis
    • R.A. Pagon, M.P. Adam, T.D. Bird, University of Washington, Seattle Seattle, WA
    • R. Brand, M. Nielsen, H. Lynch, and E. Infante MUTYH-associated polyposis R.A. Pagon, M.P. Adam, T.D. Bird, GeneReviews™ [Internet] 1993-2014 University of Washington, Seattle Seattle, WA
    • (1993) GeneReviews™ [Internet]
    • Brand, R.1    Nielsen, M.2    Lynch, H.3    Infante, E.4
  • 14
    • 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
    • Y. Gu, A. Parker, T.M. Wilson, H. Bai, D.Y. Chang, and A.L. Lu 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    Bai, H.4    Chang, D.Y.5    Lu, A.L.6
  • 15
    • 47749140060 scopus 로고    scopus 로고
    • Pathological features of colorectal carcinomas in MYH-associated polyposis
    • A.M. O'Shea, S.P. Cleary, and M.A. Croitoru 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
  • 16
    • 69849112388 scopus 로고    scopus 로고
    • Clinical implications of the colorectal cancer risk associated with MUTYH mutation
    • S.J. Lubbe, M.C. Di Bernardo, I.P. Chandler, and R.S. Houlston 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    Houlston, R.S.4
  • 17
    • 67650751794 scopus 로고    scopus 로고
    • Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas
    • M. Nielsen, N.F. de Miranda, and M. van Puijenbroek et al. Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas BMC Cancer 9 2009 184
    • (2009) BMC Cancer , vol.9 , pp. 184
    • Nielsen, M.1    De Miranda, N.F.2    Van Puijenbroek, M.3
  • 18
    • 62949228316 scopus 로고    scopus 로고
    • Germline MutY human homologue mutations and colorectal cancer: A multisite case-control study
    • S.P. Cleary, M. Cotterchio, and M.A. Jenkins 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
  • 19
    • 33750433538 scopus 로고    scopus 로고
    • The role of MYH and microsatellite instability in the development of sporadic colorectal cancer
    • A. Colebatch, M. Hitchins, R. Williams, A. Meagher, N.J. Hawkins, and R.L. Ward The role of MYH and microsatellite instability in the development of sporadic colorectal cancer Br J Cancer 95 9 2006 1239 1243
    • (2006) Br J Cancer , vol.95 , Issue.9 , pp. 1239-1243
    • Colebatch, A.1    Hitchins, M.2    Williams, R.3    Meagher, A.4    Hawkins, N.J.5    Ward, R.L.6
  • 20
    • 78650186816 scopus 로고    scopus 로고
    • MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions
    • J.H. Lefevre, C. Colas, and F. Coulet et al. MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions Fam Cancer 9 4 2010 589 594
    • (2010) Fam Cancer , vol.9 , Issue.4 , pp. 589-594
    • Lefevre, J.H.1    Colas, C.2    Coulet, F.3
  • 21
    • 84908553713 scopus 로고    scopus 로고
    • Biallelic MUTYH mutations can mimic Lynch syndrome
    • 10.1038/ejhg.2014.15 [Epub ahead of print]
    • M. Morak, B. Heidenreich, and G. Keller et al. Biallelic MUTYH mutations can mimic Lynch syndrome Eur J Hum Genet 2014 10.1038/ejhg.2014.15 [Epub ahead of print]
    • (2014) Eur J Hum Genet
    • Morak, M.1    Heidenreich, B.2    Keller, G.3
  • 22
    • 84895789502 scopus 로고    scopus 로고
    • Application of a 5-tiered scheme for standardized classification of 2360 unique mismatch repair gene variants in the InSiGHT locus-specific database
    • B.A. Thompson, A.B. Spurdle, and J.P. Plazzer et al. Application of a 5-tiered scheme for standardized classification of 2360 unique mismatch repair gene variants in the InSiGHT locus-specific database Nat Genet 46 2 2013 107 115
    • (2013) Nat Genet , vol.46 , Issue.2 , pp. 107-115
    • Thompson, B.A.1    Spurdle, A.B.2    Plazzer, J.P.3
  • 23
    • 67649836973 scopus 로고    scopus 로고
    • Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: A different spectrum of mutations?
    • N. Gomez-Fernandez, S. Castellvi-Bel, and C. Fernandez-Rozadilla et al. Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? BMC Med Genet 10 2009 57
    • (2009) BMC Med Genet , vol.10 , pp. 57
    • Gomez-Fernandez, N.1    Castellvi-Bel, S.2    Fernandez-Rozadilla, C.3
  • 24
    • 84865712699 scopus 로고    scopus 로고
    • Nanofluidic digital PCR for KRAS mutation detection and quantification in gastrointestinal cancer
    • D. Azuara, M.M. Ginesta, and M. Gausachs et al. Nanofluidic digital PCR for KRAS mutation detection and quantification in gastrointestinal cancer Clin Chem 58 9 2012 1332 1341
    • (2012) Clin Chem , vol.58 , Issue.9 , pp. 1332-1341
    • Azuara, D.1    Ginesta, M.M.2    Gausachs, M.3
  • 25
    • 33947280508 scopus 로고    scopus 로고
    • Identification of MYH mutation carriers in colorectal cancer: A multicenter, case-control, population-based study
    • F. Balaguer, S. Castellvi-Bel, and A. Castells et al. Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study Clin Gastroenterol Hepatol 5 3 2007 379 387
    • (2007) Clin Gastroenterol Hepatol , vol.5 , Issue.3 , pp. 379-387
    • Balaguer, F.1    Castellvi-Bel, S.2    Castells, A.3
  • 26
    • 77955057944 scopus 로고    scopus 로고
    • Biallelic MYH germline mutations as cause of Muir-Torre syndrome
    • C. Guillen-Ponce, A. Castillejo, and V.M. Barbera et al. Biallelic MYH germline mutations as cause of Muir-Torre syndrome Fam Cancer 9 2 2010 151 154
    • (2010) Fam Cancer , vol.9 , Issue.2 , pp. 151-154
    • Guillen-Ponce, C.1    Castillejo, A.2    Barbera, V.M.3
  • 27
    • 0035444798 scopus 로고    scopus 로고
    • Kirsten ras mutations in patients with colorectal cancer: The 'RASCAL II' study
    • H.J. Andreyev, A.R. Norman, and D. Cunningham et al. Kirsten ras mutations in patients with colorectal cancer: the 'RASCAL II' study Br J Cancer 85 5 2001 692 696
    • (2001) Br J Cancer , vol.85 , Issue.5 , pp. 692-696
    • Andreyev, H.J.1    Norman, A.R.2    Cunningham, D.3
  • 28
    • 40749120502 scopus 로고    scopus 로고
    • Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G>T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue
    • M. van Puijenbroek, M. Nielsen, and C.M. Tops et al. Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G>T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue Clin Cancer Res 14 1 2008 139 142
    • (2008) Clin Cancer Res , vol.14 , Issue.1 , pp. 139-142
    • Van Puijenbroek, M.1    Nielsen, M.2    Tops, C.M.3
  • 29
    • 84894353372 scopus 로고    scopus 로고
    • Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in lynch syndrome-like tumors
    • A.R. Mensenkamp, I.P. Vogelaar, and W.A. van Zelst-Stams et al. Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in lynch syndrome-like tumors Gastroenterology 2014
    • (2014) Gastroenterology
    • Mensenkamp, A.R.1    Vogelaar, I.P.2    Van Zelst-Stams, W.A.3
  • 30
    • 84873409763 scopus 로고    scopus 로고
    • 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
    • A.P. Knopperts, M. Nielsen, and R.C. Niessen et al. 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 Fam Cancer 12 1 2013 43 50
    • (2013) Fam Cancer , vol.12 , Issue.1 , pp. 43-50
    • Knopperts, A.P.1    Nielsen, M.2    Niessen, R.C.3
  • 31
    • 3242689475 scopus 로고    scopus 로고
    • MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps
    • L. Wang, L.M. Baudhuin, and L.A. Boardman 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
  • 32
    • 78349250964 scopus 로고    scopus 로고
    • MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer
    • M.D. Giraldez, F. Balaguer, and L. Bujanda et al. MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer Clin Cancer Res 16 22 2010 5402 5413
    • (2010) Clin Cancer Res , vol.16 , Issue.22 , pp. 5402-5413
    • Giraldez, M.D.1    Balaguer, F.2    Bujanda, L.3
  • 33
    • 84880132096 scopus 로고    scopus 로고
    • Colorectal cancer in a monoallelic MYH mutation carrier
    • R. Khalaf, C. Jones, W. Strutt, and P. Williamson Colorectal cancer in a monoallelic MYH mutation carrier J Gastrointest Surg 17 8 2013 1500 1502
    • (2013) J Gastrointest Surg , vol.17 , Issue.8 , pp. 1500-1502
    • Khalaf, R.1    Jones, C.2    Strutt, W.3    Williamson, P.4
  • 34
    • 80052266917 scopus 로고    scopus 로고
    • Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer
    • A.K. Win, S.P. Cleary, and J.G. Dowty et al. Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer Int J Cancer 129 9 2011 2256 2262
    • (2011) Int J Cancer , vol.129 , Issue.9 , pp. 2256-2262
    • Win, A.K.1    Cleary, S.P.2    Dowty, J.G.3
  • 35
    • 7944225535 scopus 로고    scopus 로고
    • Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk
    • M.E. Croitoru, S.P. Cleary, and N. Di Nicola 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
  • 36
    • 84891673192 scopus 로고    scopus 로고
    • Genetic variants associated with colorectal cancer risk: Comprehensive research synopsis, meta-analysis, and epidemiological evidence
    • X. Ma, B. Zhang, and W. Zheng Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence Gut 63 2 2013 326 336
    • (2013) Gut , vol.63 , Issue.2 , pp. 326-336
    • Ma, X.1    Zhang, B.2    Zheng, W.3
  • 37
    • 84883635842 scopus 로고    scopus 로고
    • Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility
    • S. Picelli, J. Lorenzo Bermejo, and J. Chang-Claude et al. Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility PloS one 8 9 2013 e72091
    • (2013) PloS One , vol.8 , Issue.9 , pp. 72091
    • Picelli, S.1    Lorenzo Bermejo, J.2    Chang-Claude, J.3
  • 38
    • 77949487616 scopus 로고    scopus 로고
    • Common variants in human CRC genes as low-risk alleles
    • S. Picelli, P. Zajac, and X.L. Zhou et al. Common variants in human CRC genes as low-risk alleles Eur J Cancer 46 6 2010 1041 1048
    • (2010) Eur J Cancer , vol.46 , Issue.6 , pp. 1041-1048
    • Picelli, S.1    Zajac, P.2    Zhou, X.L.3
  • 39
    • 84868617486 scopus 로고    scopus 로고
    • Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells
    • A.G. Raetz, Y. Xie, S. Kundu, M.K. Brinkmeyer, C. Chang, and S.S. David Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells Carcinogenesis 33 11 2012 2301 2309
    • (2012) Carcinogenesis , vol.33 , Issue.11 , pp. 2301-2309
    • Raetz, A.G.1    Xie, Y.2    Kundu, S.3    Brinkmeyer, M.K.4    Chang, C.5    David, S.S.6
  • 40
    • 84876552334 scopus 로고    scopus 로고
    • Understanding the role of the Q338H MUTYH variant in oxidative damage repair
    • E. Turco, I. Ventura, and A. Minoprio et al. Understanding the role of the Q338H MUTYH variant in oxidative damage repair Nucl Acids Res 41 7 2013 4093 4103
    • (2013) Nucl Acids Res , vol.41 , Issue.7 , pp. 4093-4103
    • Turco, E.1    Ventura, I.2    Minoprio, A.3


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