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Volumn 234, Issue 4, 2014, Pages 548-559

Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers

Author keywords

Colorectal cancer; Germline mutation; Lynch syndrome; Mismatch repair deficiency

Indexed keywords

ADULT; AGED; ARTICLE; CANCER PATIENT; CANCER SCREENING; CLINICAL ARTICLE; COLORECTAL CANCER; CONTROLLED STUDY; DNA METHYLATION; ENDOMETRIUM CANCER; FEMALE; GENE DELETION; GENE DISRUPTION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC PROCEDURES; GERMLINE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; MALE; MIDDLE AGED; MISMATCH REPAIR GENE; MLH1 GENE; MOLECULAR DIAGNOSIS; NETHERLANDS; NEXT GENERATION SEQUENCING; PROMOTER REGION; RETROSPECTIVE STUDY; SOMATIC MUTATION; TUMOR GENE; GENETICS; LYNCH SYNDROME II; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; NUCLEOTIDE SEQUENCE;

EID: 84911377223     PISSN: 00223417     EISSN: 10969896     Source Type: Journal    
DOI: 10.1002/path.4419     Document Type: Article
Times cited : (124)

References (42)
  • 1
    • 33747871345 scopus 로고    scopus 로고
    • Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients
    • Hampel H, Frankel W, Panescu J, et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 2006; 66: 7810-7817.
    • (2006) Cancer Res , vol.66 , pp. 7810-7817
    • Hampel, H.1    Frankel, W.2    Panescu, J.3
  • 2
    • 57449097359 scopus 로고    scopus 로고
    • Feasibility of screening for Lynch syndrome among patients with colorectal cancer
    • Hampel H, Frankel WL, Martin E, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 2008; 26: 5783-5788.
    • (2008) J Clin Oncol , vol.26 , pp. 5783-5788
    • Hampel, H.1    Frankel, W.L.2    Martin, E.3
  • 3
    • 58149144567 scopus 로고    scopus 로고
    • Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1
    • Ligtenberg MJ, Kuiper RP, Chan TL, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1. Nat Genet 2009; 41: 112-117.
    • (2009) Nat Genet , vol.41 , pp. 112-117
    • Ligtenberg, M.J.1    Kuiper, R.P.2    Chan, T.L.3
  • 4
    • 84880917823 scopus 로고    scopus 로고
    • EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients
    • Ligtenberg MJ, Kuiper RP, Geurts van Kessel A, et al. EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients. Fam Cancer 2013; 12: 169-174.
    • (2013) Fam Cancer , vol.12 , pp. 169-174
    • Ligtenberg, M.J.1    Kuiper, R.P.2    Geurts Van Kessel, A.3
  • 5
    • 24144493180 scopus 로고    scopus 로고
    • Evolution of the nomenclature for the hereditary colorectal cancer syndromes
    • Boland CR. Evolution of the nomenclature for the hereditary colorectal cancer syndromes. Fam Cancer 2005; 4: 211-218.
    • (2005) Fam Cancer , vol.4 , pp. 211-218
    • Boland, C.R.1
  • 6
    • 77951970005 scopus 로고    scopus 로고
    • A review on the molecular diagnostics of Lynch syndrome: A central role for the pathology laboratory
    • van Lier MG, Wagner A, van Leerdam ME, et al. A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory. J Cell Mol Med 2010; 14: 181-197.
    • (2010) J Cell Mol Med , vol.14 , pp. 181-197
    • Van Lier, M.G.1    Wagner, A.2    Van Leerdam, M.E.3
  • 7
    • 84857993554 scopus 로고    scopus 로고
    • Yield of routine molecular analyses in colorectal cancer patients ≤ 70 years to detect underlying Lynch syndrome
    • van Lier MG, Leenen CH, Wagner A, et al. Yield of routine molecular analyses in colorectal cancer patients ≤ 70 years to detect underlying Lynch syndrome. J Pathol 2012; 226: 764-774.
    • (2012) J Pathol , vol.226 , pp. 764-774
    • Van Lier, M.G.1    Leenen, C.H.2    Wagner, A.3
  • 8
    • 84859566031 scopus 로고    scopus 로고
    • Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years
    • Leenen CH, van Lier MG, van Doorn HC, et al. Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years. Gynecol Oncol 2012; 125: 414-420.
    • (2012) Gynecol Oncol , vol.125 , pp. 414-420
    • Leenen, C.H.1    Van Lier, M.G.2    Van Doorn, H.C.3
  • 9
    • 67449102218 scopus 로고    scopus 로고
    • Meta-analysis of MSH6 gene mutation frequency in colorectal and endometrial cancers
    • Zhao YS, Hu FL, Wang F, et al. Meta-analysis of MSH6 gene mutation frequency in colorectal and endometrial cancers. J Toxicol Environ Health A 2009; 72: 690-697.
    • (2009) J Toxicol Environ Health A , vol.72 , pp. 690-697
    • Zhao, Y.S.1    Hu, F.L.2    Wang, F.3
  • 10
    • 84863078821 scopus 로고    scopus 로고
    • A meta-analysis of the prevalence of somatic mutations in the hMLH1 and hMSH2 genes in colorectal cancer
    • Zhang R, Qin W, Xu GL, et al. A meta-analysis of the prevalence of somatic mutations in the hMLH1 and hMSH2 genes in colorectal cancer. Colorectal Dis 2012; 14: e80-89.
    • (2012) Colorectal Dis , vol.14 , pp. e80-e89
    • Zhang, R.1    Qin, W.2    Xu, G.L.3
  • 11
    • 84873412484 scopus 로고    scopus 로고
    • Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors
    • Sourrouille I, Coulet F, Lefevre JH, et al. Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors. Fam Cancer 2013; 12: 27-33.
    • (2013) Fam Cancer , vol.12 , pp. 27-33
    • Sourrouille, I.1    Coulet, F.2    Lefevre, J.H.3
  • 12
    • 84894353372 scopus 로고    scopus 로고
    • Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors
    • Mensenkamp AR, Vogelaar IP, van Zelst-Stams WA, et al. Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors. Gastroenterology 2014; 146: 643-646.
    • (2014) Gastroenterology , vol.146 , pp. 643-646
    • Mensenkamp, A.R.1    Vogelaar, I.P.2    Van Zelst-Stams, W.A.3
  • 13
    • 0034011564 scopus 로고    scopus 로고
    • Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer
    • Jarvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000; 118: 829-834.
    • (2000) Gastroenterology , vol.118 , pp. 829-834
    • Jarvinen, H.J.1    Aarnio, M.2    Mustonen, H.3
  • 14
    • 33644864321 scopus 로고    scopus 로고
    • Decrease in mortality in Lynch syndrome families because of surveillance
    • de Jong AE, Hendriks YM, Kleibeuker JH, et al. Decrease in mortality in Lynch syndrome families because of surveillance. Gastroenterology 2006; 130: 665-671.
    • (2006) Gastroenterology , vol.130 , pp. 665-671
    • De Jong, A.E.1    Hendriks, Y.M.2    Kleibeuker, J.H.3
  • 15
    • 58449114490 scopus 로고    scopus 로고
    • Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation
    • Stupart DA, Goldberg PA, Algar U, et al. Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation. Colorectal Dis 2009; 11: 126-130.
    • (2009) Colorectal Dis , vol.11 , pp. 126-130
    • Stupart, D.A.1    Goldberg, P.A.2    Algar, U.3
  • 16
    • 30944457531 scopus 로고    scopus 로고
    • Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome
    • Schmeler KM, Lynch HT, Chen LM, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 2006; 354: 261-269.
    • (2006) N Engl J Med , vol.354 , pp. 261-269
    • Schmeler, K.M.1    Lynch, H.T.2    Chen, L.M.3
  • 17
    • 77952536391 scopus 로고    scopus 로고
    • Two multiplex assays that simultaneously identify 22 possible mutation sites in the KRAS, BRAF, NRAS and PIK3CA genes
    • Lurkin I, Stoehr R, Hurst CD, et al. Two multiplex assays that simultaneously identify 22 possible mutation sites in the KRAS, BRAF, NRAS and PIK3CA genes. PLoS One 2010; 5: e8802.
    • (2010) PLoS One , vol.5 , pp. e8802
    • Lurkin, I.1    Stoehr, R.2    Hurst, C.D.3
  • 18
    • 84877111711 scopus 로고    scopus 로고
    • Molecular diagnostics of a single multifocal non-small cell lung cancer case using targeted next generation sequencing
    • Geurts-Giele WR, Dirkx-van der Velden AW, Bartalits NM, et al. Molecular diagnostics of a single multifocal non-small cell lung cancer case using targeted next generation sequencing. Virchows Arch 2013; 462: 249-254.
    • (2013) Virchows Arch , vol.462 , pp. 249-254
    • Geurts-Giele, W.R.1    Dirkx-Van Der Velden, A.W.2    Bartalits, N.M.3
  • 19
    • 55549101314 scopus 로고    scopus 로고
    • Sequence variant classification and reporting: Recommendations for improving the interpretation of cancer susceptibility genetic test results
    • Plon SE, Eccles DM, Easton D, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008; 29: 1282-1291.
    • (2008) Hum Mutat , vol.29 , pp. 1282-1291
    • Plon, S.E.1    Eccles, D.M.2    Easton, D.3
  • 20
    • 84895789502 scopus 로고    scopus 로고
    • Application of a five-tiered scheme for standardized classification of 2360 unique mismatch repair gene variants in the InSiGHT locus-specific database
    • Thompson BA, Spurdle AB, Plazzer JP, et al. Application of a five-tiered scheme for standardized classification of 2360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet 2014; 46: 107-115.
    • (2014) Nat Genet , vol.46 , pp. 107-115
    • Thompson, B.A.1    Spurdle, A.B.2    Plazzer, J.P.3
  • 21
    • 79953677482 scopus 로고    scopus 로고
    • LOH and copy neutral LOH (cnLOH) act as alternative mechanism in sporadic colorectal cancers with chromosomal and microsatellite instability
    • Melcher R, Hartmann E, Zopf W, et al. LOH and copy neutral LOH (cnLOH) act as alternative mechanism in sporadic colorectal cancers with chromosomal and microsatellite instability. Carcinogenesis 2011; 32: 636-642.
    • (2011) Carcinogenesis , vol.32 , pp. 636-642
    • Melcher, R.1    Hartmann, E.2    Zopf, W.3
  • 22
    • 13144307115 scopus 로고    scopus 로고
    • Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers
    • Veigl ML, Kasturi L, Olechnowicz J, et al. Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers. Proc Natl Acad Sci USA 1998; 95: 8698-8702.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 8698-8702
    • Veigl, M.L.1    Kasturi, L.2    Olechnowicz, J.3
  • 23
    • 55949095908 scopus 로고    scopus 로고
    • Genome-wide copy neutral LOHis infrequent in familial and sporadic microsatellite unstable carcinomas
    • van Puijenbroek M, Middeldorp A, Tops CM, et al. Genome-wide copy neutral LOHis infrequent in familial and sporadic microsatellite unstable carcinomas. Fam Cancer 2008; 7: 319-330.
    • (2008) Fam Cancer , vol.7 , pp. 319-330
    • Van Puijenbroek, M.1    Middeldorp, A.2    Tops, C.M.3
  • 24
    • 16544381802 scopus 로고    scopus 로고
    • Promoter hypermethylation frequency and BRAF mutations distinguish hereditary non-polyposis colon cancer from sporadic MSI-H colon cancer
    • McGivern A, Wynter CV, Whitehall VL, et al. Promoter hypermethylation frequency and BRAF mutations distinguish hereditary non-polyposis colon cancer from sporadic MSI-H colon cancer. Fam Cancer 2004; 3: 101-107.
    • (2004) Fam Cancer , vol.3 , pp. 101-107
    • McGivern, A.1    Wynter, C.V.2    Whitehall, V.L.3
  • 25
    • 84860314426 scopus 로고    scopus 로고
    • Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: A literature review assessing utility of tumour features for MMR variant classification
    • Parsons MT, Buchanan DD, Thompson B, et al. Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification. J Med Genet 2012; 49: 151-157.
    • (2012) J Med Genet , vol.49 , pp. 151-157
    • Parsons, M.T.1    Buchanan, D.D.2    Thompson, B.3
  • 26
    • 58149328950 scopus 로고    scopus 로고
    • CRAF inhibition induces apoptosis in melanoma cells with non-V600E BRAF mutations
    • Smalley KS, Xiao M, Villanueva J, et al. CRAF inhibition induces apoptosis in melanoma cells with non-V600E BRAF mutations. Oncogene 2009; 28: 85-94.
    • (2009) Oncogene , vol.28 , pp. 85-94
    • Smalley, K.S.1    Xiao, M.2    Villanueva, J.3
  • 27
    • 77955277111 scopus 로고    scopus 로고
    • Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: A retrospective consortium analysis
    • De Roock W, Claes B, Bernasconi D, et al. Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. Lancet Oncol 2010; 11: 753-762.
    • (2010) Lancet Oncol , vol.11 , pp. 753-762
    • De Roock, W.1    Claes, B.2    Bernasconi, D.3
  • 28
    • 78651071913 scopus 로고    scopus 로고
    • Detection of KRAS and BRAF mutations in colorectal carcinoma roles for high-sensitivity locked nucleic acid-PCR sequencing and broad-spectrum mass spectrometry genotyping
    • Arcila M, Lau C, Nafa K, et al. Detection of KRAS and BRAF mutations in colorectal carcinoma roles for high-sensitivity locked nucleic acid-PCR sequencing and broad-spectrum mass spectrometry genotyping. J Mol Diagn 2011; 13: 64-73.
    • (2011) J Mol Diagn , vol.13 , pp. 64-73
    • Arcila, M.1    Lau, C.2    Nafa, K.3
  • 29
    • 84876492979 scopus 로고    scopus 로고
    • Risk of cancer in cases of suspected Lynch syndrome without germline mutation
    • Rodriguez-Soler M, Perez-Carbonell L, Guarinos C, et al. Risk of cancer in cases of suspected Lynch syndrome without germline mutation. Gastroenterology 2013; 144: 926-932.
    • (2013) Gastroenterology , vol.144 , pp. 926-932
    • Rodriguez-Soler, M.1    Perez-Carbonell, L.2    Guarinos, C.3
  • 30
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
    • Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010; 38: e164.
    • (2010) Nucleic Acids Res , vol.38 , pp. e164
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 31
    • 25844449770 scopus 로고    scopus 로고
    • Galaxy: A platform for interactive large-scale genome analysis
    • Giardine B, Riemer C, Hardison RC, et al. Galaxy: a platform for interactive large-scale genome analysis. Genome Res 2005; 15: 1451-1455.
    • (2005) Genome Res , vol.15 , pp. 1451-1455
    • Giardine, B.1    Riemer, C.2    Hardison, R.C.3
  • 32
    • 77955801615 scopus 로고    scopus 로고
    • Galaxy: A comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences
    • Goecks J, Nekrutenko A, Taylor J, et al. Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences. Genome Biol 2010; 11: R86.
    • (2010) Genome Biol , vol.11 , pp. R86
    • Goecks, J.1    Nekrutenko, A.2    Taylor, J.3
  • 33
    • 75949108066 scopus 로고    scopus 로고
    • Galaxy: A web-based genome analysis tool for experimentalists
    • Blankenberg D, Von Kuster G, Coraor N, et al. Galaxy: a web-based genome analysis tool for experimentalists. Curr Protoc Mol Biol 2010; 19: 19.10.11-19.10.21.
    • (2010) Curr Protoc Mol Biol , vol.19 , pp. 19.10.11-19.10.21
    • Blankenberg, D.1    Von Kuster, G.2    Coraor, N.3
  • 34
    • 33644537810 scopus 로고    scopus 로고
    • Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
    • Tavtigian SV, Deffenbaugh AM, Yin L, et al. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet 2006; 43: 295-305.
    • (2006) J Med Genet , vol.43 , pp. 295-305
    • Tavtigian, S.V.1    Deffenbaugh, A.M.2    Yin, L.3
  • 35
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073-1081.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 36
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz JM, Rodelsperger C, Schuelke M, et al. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010; 7: 575-576.
    • (2010) Nat Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rodelsperger, C.2    Schuelke, M.3
  • 37
    • 0016197604 scopus 로고
    • Amino acid difference formula to help explain protein evolution
    • Grantham R. Amino acid difference formula to help explain protein evolution. Science 1974; 185: 862-864.
    • (1974) Science , vol.185 , pp. 862-864
    • Grantham, R.1
  • 38
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-249.
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 39
    • 84871578629 scopus 로고    scopus 로고
    • Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models
    • Shihab HA, Gough J, Cooper DN, et al. Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum Mutat 2013; 34: 57-65.
    • (2013) Hum Mutat , vol.34 , pp. 57-65
    • Shihab, H.A.1    Gough, J.2    Cooper, D.N.3
  • 40
    • 77957154710 scopus 로고    scopus 로고
    • Prioritization of driver mutations in pancreatic cancer using cancer-specific high-throughput annotation of somatic mutations (CHASM)
    • Carter H, Samayoa J, Hruban RH, et al. Prioritization of driver mutations in pancreatic cancer using cancer-specific high-throughput annotation of somatic mutations (CHASM). Cancer Biol Ther 2010; 10: 582-587.
    • (2010) Cancer Biol Ther , vol.10 , pp. 582-587
    • Carter, H.1    Samayoa, J.2    Hruban, R.H.3
  • 41
    • 84867301515 scopus 로고    scopus 로고
    • Predicting the functional effect of amino acid substitutions and indels
    • Choi Y, Sims GE, Murphy S, et al. Predicting the functional effect of amino acid substitutions and indels. PLoS One 2012; 7: e46688.
    • (2012) PLoS One , vol.7 , pp. e46688
    • Choi, Y.1    Sims, G.E.2    Murphy, S.3
  • 42
    • 6044244954 scopus 로고    scopus 로고
    • Human MutL homolog (MLH1) function in DNA mismatch repair: A prospective screen for missense mutations in the ATPase domain
    • Ellison AR, Lofing J, Bitter GA. Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain. Nucleic Acids Res 2004; 32: 5321-5338.
    • (2004) Nucleic Acids Res , vol.32 , pp. 5321-5338
    • Ellison, A.R.1    Lofing, J.2    Bitter, G.A.3


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