메뉴 건너뛰기




Volumn 147, Issue 6, 2014, Pages 1308-1316.e1

Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations

Author keywords

Colon Cancer; dMMR; Genomic Instability; MSI

Indexed keywords

B RAF KINASE; EPITHELIAL CELL ADHESION MOLECULE; EXONUCLEASE; GENOMIC DNA; MISMATCH REPAIR PROTEIN PMS2; POLE PROTEIN; PROTEIN; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; UNCLASSIFIED DRUG; ADENOSINE TRIPHOSPHATASE; CELL ADHESION MOLECULE; DNA BINDING PROTEIN; DNA DIRECTED DNA POLYMERASE ALPHA; DNA DIRECTED DNA POLYMERASE GAMMA; DNA LIGASE; EPCAM PROTEIN, HUMAN; G-T MISMATCH-BINDING PROTEIN; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; NUCLEAR PROTEIN; PMS2 PROTEIN, HUMAN; POLD1 PROTEIN, HUMAN; POLE PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR ANTIGEN;

EID: 84913584766     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2014.08.041     Document Type: Article
Times cited : (305)

References (31)
  • 1
    • 17944362664 scopus 로고    scopus 로고
    • Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)
    • H. Hampel, W.L. Frankel, and E. Martin Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer) N Engl J Med 352 2005 1851 1860
    • (2005) N Engl J Med , vol.352 , pp. 1851-1860
    • Hampel, H.1    Frankel, W.L.2    Martin, E.3
  • 2
    • 57449097359 scopus 로고    scopus 로고
    • Feasibility of screening for Lynch syndrome among patients with colorectal cancer
    • H. Hampel, W.L. Frankel, and E. Martin Feasibility of screening for Lynch syndrome among patients with colorectal cancer J Clin Oncol 26 2008 5783 5788
    • (2008) J Clin Oncol , vol.26 , pp. 5783-5788
    • Hampel, H.1    Frankel, W.L.2    Martin, E.3
  • 3
    • 33747871345 scopus 로고    scopus 로고
    • Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients
    • H. Hampel, W. Frankel, and J. Panescu Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients Cancer Res 66 2006 7810 7817
    • (2006) Cancer Res , vol.66 , pp. 7810-7817
    • Hampel, H.1    Frankel, W.2    Panescu, J.3
  • 4
    • 35148901553 scopus 로고    scopus 로고
    • Comment on: Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients
    • H. Hampel, J. Panescu, and J. Lockman Comment on: screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients Cancer Res 67 2007 9603
    • (2007) Cancer Res , vol.67 , pp. 9603
    • Hampel, H.1    Panescu, J.2    Lockman, J.3
  • 5
    • 84863922124 scopus 로고    scopus 로고
    • Comprehensive molecular characterization of human colon and rectal cancer
    • Cancer Genome Atlas Network
    • Cancer Genome Atlas Network Comprehensive molecular characterization of human colon and rectal cancer Nature 487 7407 2012 330 337
    • (2012) Nature , vol.487 , Issue.7407 , pp. 330-337
  • 6
    • 59849108362 scopus 로고    scopus 로고
    • Recommendations from the EGAPP Working Group: Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives
    • Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group
    • Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives Genet Med 11 2009 35 41
    • (2009) Genet Med , vol.11 , pp. 35-41
  • 7
    • 84862530392 scopus 로고    scopus 로고
    • Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for lynch syndrome among us cancer programs and follow-up of abnormal results
    • L.C. Beamer, M.L. Grant, and C.R. Espenschied Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for lynch syndrome among us cancer programs and follow-up of abnormal results J Clin Oncol 30 2012 1058 1063
    • (2012) J Clin Oncol , vol.30 , pp. 1058-1063
    • Beamer, L.C.1    Grant, M.L.2    Espenschied, C.R.3
  • 8
    • 58149144567 scopus 로고    scopus 로고
    • Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3[prime] exons of TACSTD1
    • M.J.L. Ligtenberg, R.P. Kuiper, and T.L. Chan Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3[prime] exons of TACSTD1 Nat Genet 41 2009 112 117
    • (2009) Nat Genet , vol.41 , pp. 112-117
    • Ligtenberg, M.J.L.1    Kuiper, R.P.2    Chan, T.L.3
  • 9
    • 84903135901 scopus 로고    scopus 로고
    • Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population
    • J. Rhees, M. Arnold, and C.R. Boland Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population Fam Cancer 13 2013 219 225
    • (2013) Fam Cancer , vol.13 , pp. 219-225
    • Rhees, J.1    Arnold, M.2    Boland, C.R.3
  • 10
    • 84876492979 scopus 로고    scopus 로고
    • Risk of cancer in cases of suspected Lynch syndrome without germline mutation
    • M. Rodríguez-Soler, L. Pérez-Carbonell, and C. Guarinos Risk of cancer in cases of suspected Lynch syndrome without germline mutation Gastroenterology 144 2013 926 932.e921
    • (2013) Gastroenterology , vol.144 , pp. 926-932e921
    • Rodríguez-Soler, M.1    Pérez-Carbonell, L.2    Guarinos, C.3
  • 11
    • 84863609627 scopus 로고    scopus 로고
    • Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer Joint Practice Guideline
    • S. Weissman, R. Burt, and J. Church Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer Joint Practice Guideline J Genet Counsel 21 2012 484 493
    • (2012) J Genet Counsel , vol.21 , pp. 484-493
    • Weissman, S.1    Burt, R.2    Church, J.3
  • 12
    • 84873412484 scopus 로고    scopus 로고
    • Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors
    • I. Sourrouille, F. Coulet, and J. Lefevre Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors Fam Cancer 12 2013 27 33
    • (2013) Fam Cancer , vol.12 , pp. 27-33
    • Sourrouille, I.1    Coulet, F.2    Lefevre, J.3
  • 13
    • 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.G. van Zelst-Stams Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors Gastroenterology 146 2014 643 646.e648
    • (2014) Gastroenterology , vol.146 , pp. 643-646e648
    • Mensenkamp, A.R.1    Vogelaar, I.P.2    Van Zelst-Stams, W.A.G.3
  • 15
    • 84862651279 scopus 로고    scopus 로고
    • ColoSeq provides comprehensive Lynch and polyposis syndrome mutational analysis using massively parallel sequencing
    • C.C. Pritchard, C. Smith, and S.J. Salipante ColoSeq provides comprehensive Lynch and polyposis syndrome mutational analysis using massively parallel sequencing J Mol Diagn 14 2012 357 366
    • (2012) J Mol Diagn , vol.14 , pp. 357-366
    • Pritchard, C.C.1    Smith, C.2    Salipante, S.J.3
  • 16
    • 84890067177 scopus 로고    scopus 로고
    • A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing
    • C.C. Pritchard, C. Smith, and T. Marushchak A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing Genet Med 15 2013 1004 1007
    • (2013) Genet Med , vol.15 , pp. 1004-1007
    • Pritchard, C.C.1    Smith, C.2    Marushchak, T.3
  • 17
    • 84863229597 scopus 로고    scopus 로고
    • VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
    • D.C. Koboldt, Q. Zhang, and D.E. Larson VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing Genome Res 22 2012 568 576
    • (2012) Genome Res , vol.22 , pp. 568-576
    • Koboldt, D.C.1    Zhang, Q.2    Larson, D.E.3
  • 18
    • 84861135980 scopus 로고    scopus 로고
    • CONTRA: Copy number analysis for targeted resequencing
    • J. Li, R. Lupat, and K.C. Amarasinghe CONTRA: copy number analysis for targeted resequencing Bioinformatics 28 2012 1307 1313
    • (2012) Bioinformatics , vol.28 , pp. 1307-1313
    • Li, J.1    Lupat, R.2    Amarasinghe, K.C.3
  • 19
    • 70350694443 scopus 로고    scopus 로고
    • Pindel: A pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
    • K. Ye, M.H. Schulz, Q. Long, R. Apweiler, and Z. Ning Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads Bioinformatics 25 2009 2865 2871
    • (2009) Bioinformatics , vol.25 , pp. 2865-2871
    • Ye, K.1    Schulz, M.H.2    Long, Q.3    Apweiler, R.4    Ning, Z.5
  • 20
    • 84890409823 scopus 로고    scopus 로고
    • Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens
    • C.C. Pritchard, S.J. Salipante, and K. Koehler Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens J Mol Diag 16 2014 56 67
    • (2014) J Mol Diag , vol.16 , pp. 56-67
    • Pritchard, C.C.1    Salipante, S.J.2    Koehler, K.3
  • 21
    • 84906841915 scopus 로고    scopus 로고
    • Microsatellite instability detection by next generation sequencing
    • S.J. Salipante, S.M. Scroggins, and H.L. Hampel Microsatellite instability detection by next generation sequencing Clin Chem 60 2014 1192 1199
    • (2014) Clin Chem , vol.60 , pp. 1192-1199
    • Salipante, S.J.1    Scroggins, S.M.2    Hampel, H.L.3
  • 22
    • 84895789502 scopus 로고    scopus 로고
    • Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
    • B.A. Thompson, A.B. Spurdle, and J.-P. Plazzer Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database Nat Genet 46 2014 107 115
    • (2014) Nat Genet , vol.46 , pp. 107-115
    • Thompson, B.A.1    Spurdle, A.B.2    Plazzer, J.-P.3
  • 23
    • 84894320117 scopus 로고    scopus 로고
    • Differentiating Lynch-like from Lynch syndrome
    • J.M. Carethers Differentiating Lynch-like from Lynch syndrome Gastroenterology 146 2014 602 604
    • (2014) Gastroenterology , vol.146 , pp. 602-604
    • Carethers, J.M.1
  • 24
    • 31544454387 scopus 로고    scopus 로고
    • Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers
    • J. Zhang, A. Lindroos, and S. Ollila Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers Cancer Res 66 2006 659 664
    • (2006) Cancer Res , vol.66 , pp. 659-664
    • Zhang, J.1    Lindroos, A.2    Ollila, S.3
  • 25
    • 34447132378 scopus 로고    scopus 로고
    • Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: A novel approach
    • M. Ollikainen, U. Hannelius, and C.M. Lindgren Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach Oncogene 26 2007 4541 4549
    • (2007) Oncogene , vol.26 , pp. 4541-4549
    • Ollikainen, M.1    Hannelius, U.2    Lindgren, C.M.3
  • 26
    • 84863078821 scopus 로고    scopus 로고
    • A meta-analysis of the prevalence of somatic mutations in the hMLH1 and hMSH2 genes in colorectal cancer
    • R. Zhang, W. Qin, and G.L. Xu A meta-analysis of the prevalence of somatic mutations in the hMLH1 and hMSH2 genes in colorectal cancer Colorectal Dis 14 2012 e80 e89
    • (2012) Colorectal Dis , vol.14 , pp. e80-e89
    • Zhang, R.1    Qin, W.2    Xu, G.L.3
  • 27
    • 0028152314 scopus 로고
    • Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer
    • A. Hemminki, P. Peltomaki, and J.-P. Mecklin Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer Nat Genet 8 1994 405 410
    • (1994) Nat Genet , vol.8 , pp. 405-410
    • Hemminki, A.1    Peltomaki, P.2    Mecklin, J.-P.3
  • 28
    • 0033828829 scopus 로고    scopus 로고
    • Recurrent germline mutation in MSH2 arises frequently de novo
    • D.C. Desai, J.C. Lockman, and R.B. Chadwick Recurrent germline mutation in MSH2 arises frequently de novo J Med Genet 37 2000 646 652
    • (2000) J Med Genet , vol.37 , pp. 646-652
    • Desai, D.C.1    Lockman, J.C.2    Chadwick, R.B.3
  • 29
    • 0028859670 scopus 로고
    • Polymerase [delta] variants in RER colorectal tumours
    • L.T. da Costa, B. Liu, and W.S. El-Deiry Polymerase [delta] variants in RER colorectal tumours Nat Genet 9 1995 10 11
    • (1995) Nat Genet , vol.9 , pp. 10-11
    • Da Costa, L.T.1    Liu, B.2    El-Deiry, W.S.3
  • 30
    • 84873096362 scopus 로고    scopus 로고
    • Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
    • C. Palles, J.-B. Cazier, and K.M. Howarth Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas Nat Genet 45 2013 136 144
    • (2013) Nat Genet , vol.45 , pp. 136-144
    • Palles, C.1    Cazier, J.-B.2    Howarth, K.M.3
  • 31
    • 84876481864 scopus 로고    scopus 로고
    • The mystery of mismatch repair deficiency: Lynch or Lynch-like?
    • C.R. Boland The mystery of mismatch repair deficiency: Lynch or Lynch-like? Gastroenterology 144 2013 868 870
    • (2013) Gastroenterology , vol.144 , pp. 868-870
    • Boland, C.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.