{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T18:14:40Z","timestamp":1792088080286,"version":"4.4.0"},"reference-count":142,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2019,7,4]],"date-time":"2019-07-04T00:00:00Z","timestamp":1562198400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,7,4]],"date-time":"2019-07-04T00:00:00Z","timestamp":1562198400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Int J Clin Oncol"],"published-print":{"date-parts":[[2019,9]]},"DOI":"10.1007\/s10147-019-01494-y","type":"journal-article","created":{"date-parts":[[2019,7,4]],"date-time":"2019-07-04T05:59:27Z","timestamp":1562219967000},"page":"999-1011","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":81,"title":["Genetic and genomic basis of the mismatch repair system involved in Lynch syndrome"],"prefix":"10.1007","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1087-9851","authenticated-orcid":false,"given":"Kazuo","family":"Tamura","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Motohide","family":"Kaneda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mashu","family":"Futagawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miho","family":"Takeshita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanghyuk","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mina","family":"Nakama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norihito","family":"Kawashita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junko","family":"Tatsumi-Miyajima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,7,4]]},"reference":[{"key":"1494_CR1","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1056\/NEJM198809013190901","volume":"319","author":"B Vogelstein","year":"1988","unstructured":"Vogelstein B, Fearon ER, Hamilton SR et al (1988) Genetic alterations during colorectal-tumor development. N Engl J Med 319:525\u2013532","journal-title":"N Engl J Med"},{"key":"1494_CR2","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1016\/0092-8674(90)90186-I","volume":"61","author":"ER Fearon","year":"1990","unstructured":"Fearon ER, Vogelstein B (1990) A genetic model for colorectal tumorigenesis. Cell 61:759\u2013767","journal-title":"Cell"},{"key":"1494_CR3","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1038\/ng0394-217","volume":"6","author":"W Bodmer","year":"1994","unstructured":"Bodmer W, Bishop T, Karran P (1994) Genetic steps in colorectal cancer. Nature Genet 6:217\u2013219","journal-title":"Nature Genet"},{"key":"1494_CR4","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/S0092-8674(00)81333-1","volume":"87","author":"KW Kinzler","year":"1996","unstructured":"Kinzler KW, Vogelstein B (1996) Lessons from hereditary colorectal cancer. Cell 87:159\u2013170","journal-title":"Cell"},{"key":"1494_CR5","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1016\/j.cell.2011.02.013","volume":"144","author":"D Hanahan","year":"2011","unstructured":"Hanahan D, Weinberg RA (2011) Hallmarks of cancer: the next generation. Cell 144:646\u2013674","journal-title":"Cell"},{"key":"1494_CR6","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1007\/s10147-004-0430-4","volume":"9","author":"K Tamura","year":"2004","unstructured":"Tamura K, Utsunomiya J, Iwama T et al (2004) Mechanism of carcinogenesis in familial tumors. Int J Clin Oncol 9:232\u2013245","journal-title":"Int J Clin Oncol"},{"key":"1494_CR7","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1056\/NEJMra012242","volume":"348","author":"HT Lynch","year":"2003","unstructured":"Lynch HT, de la Chapelle A (2003) Hereditary colorectal cancer. N Engl J Med 348:919\u2013932","journal-title":"N Engl J Med"},{"key":"1494_CR8","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1017\/S0016672300001233","volume":"5","author":"R Holliday","year":"1964","unstructured":"Holliday R (1964) A mechanism for gene conversion in fungi. Genet Res 5:282\u2013304","journal-title":"Genet Res"},{"key":"1494_CR9","doi-asserted-by":"crossref","first-page":"8490","DOI":"10.1002\/anie.201601412","volume":"55","author":"P Modrich","year":"2016","unstructured":"Modrich P (2016) Mechanisms in E. coli and mismatch repair. Angew Chem Int Ed Engl 55:8490\u20138501","journal-title":"Angew Chem Int Ed Engl"},{"key":"1494_CR10","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1007\/BF00268974","volume":"139","author":"P Nevers","year":"1975","unstructured":"Nevers P, Spats HC (1975) Escherichia coli mutants uvr D and uvr E deficient in gene conversion of lambda-heteroduplexes. Mol Gen Genet 139:233\u2013243","journal-title":"Mol Gen Genet"},{"key":"1494_CR11","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/0027-5107(78)90091-X","volume":"52","author":"B Rydberg","year":"1978","unstructured":"Rydberg B (1978) Bromouracil mutagenesis and mismatch repair in mutator strains of Escherichia coli. Mutat Res 52:11\u201324","journal-title":"Mutat Res"},{"key":"1494_CR12","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1073\/pnas.77.2.1063","volume":"77","author":"BW Glickman","year":"1980","unstructured":"Glickman BW, Radman M (1980) Escherichia coli mutator mutants deficient in methylation-instructed DNA mismatch correction. Proc Natl Acad Sci USA 77:1063\u20131067","journal-title":"Proc Natl Acad Sci USA"},{"key":"1494_CR13","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1073\/pnas.84.6.1482","volume":"84","author":"RS Lauhe","year":"1987","unstructured":"Lauhe RS, Su SS, Morich P (1987) Requirement for d(GATC) sequences in Escherichia coli mutHLS mismatch correction. Proc Natl Acad Sci USA 84:1482\u20131486","journal-title":"Proc Natl Acad Sci USA"},{"key":"1494_CR14","doi-asserted-by":"crossref","first-page":"5057","DOI":"10.1073\/pnas.83.14.5057","volume":"83","author":"SS Su","year":"1986","unstructured":"Su SS, Morrich P (1986) Escherichia coli mutS-encoded protein binds to Mismatched DNA base pairs. Proc Natl Acad Sci USA 83:5057\u20135061","journal-title":"Proc Natl Acad Sci USA"},{"key":"1494_CR15","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/B978-0-12-456270-7.50009-6","volume-title":"Recombination of the genetic material","author":"M Meselson","year":"1988","unstructured":"Meselson M (1988) Methyl-directed repair of DNA mismatches. In: Low KB (ed) Recombination of the genetic material. Academic Press, San Diego, pp 91\u2013113"},{"key":"1494_CR16","doi-asserted-by":"crossref","first-page":"6597","DOI":"10.1016\/S0021-9258(18)83467-6","volume":"264","author":"P Modrich","year":"1989","unstructured":"Modrich P (1989) Methyl-directed DNA mismatch correction. J Biol Chem 264:6597\u20136600","journal-title":"J Biol Chem"},{"key":"1494_CR17","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/0921-8777(90)90009-T","volume":"236","author":"M Grilley","year":"1990","unstructured":"Grilley M, Holmes J, Yashar B et al (1990) Mechanisms of DNA-mismatch correction. Mutat Res 236:253\u2013267","journal-title":"Mutat Res"},{"key":"1494_CR18","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1146\/annurev.ge.25.120191.001305","volume":"25","author":"P Modrich","year":"1991","unstructured":"Modrich P (1991) Mechanisms and biological effects of mismatch repair. Annu Rev Genet 25:229\u2013253","journal-title":"Annu Rev Genet"},{"key":"1494_CR19","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1038\/ng.283","volume":"41","author":"MJL Ligtenberg","year":"2009","unstructured":"Ligtenberg MJL, Kuiper RP, Chan TL et al (2009) Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3-prime exons of TACSTD1. Nature Genet 41:112\u2013117","journal-title":"Nature Genet"},{"key":"1494_CR20","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1016\/0092-8674(93)90546-3","volume":"75","author":"R Fishel","year":"1993","unstructured":"Fishel R, Lescoe MK, Rao MRS et al (1993) The human mutator gene homolog MSH2 and its association. Cell 75:1027\u20131038","journal-title":"Cell"},{"key":"1494_CR21","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1016\/0092-8674(93)90330-S","volume":"75","author":"FS Leach","year":"1993","unstructured":"Leach FS, Nicolaides NC, Papadopoulos N et al (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75:1215\u20131225","journal-title":"Cell"},{"key":"1494_CR22","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1006\/geno.1994.1661","volume":"24","author":"RD Kolodner","year":"1994","unstructured":"Kolodner RD, Hall NR, Lipford J et al (1994) Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. Genomics 24:516\u2013526","journal-title":"Genomics"},{"key":"1494_CR23","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1126\/science.7973733","volume":"266","author":"R Fishel","year":"1993","unstructured":"Fishel R, Ewel A, Lee S et al (1993) Binding of mismatched microsatellite DNA sequences by the human MSH2 protein. Science 266:1403\u20131405","journal-title":"Science"},{"key":"1494_CR24","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1126\/science.8128251","volume":"263","author":"N Papadopoulos","year":"1994","unstructured":"Papadopoulos N, Nicolaides NC, Wei Y-F et al (1994) Mutation of a mutL homolog in hereditary colon cancer. Science 263:1625\u20131629","journal-title":"Science"},{"key":"1494_CR25","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1038\/368258a0","volume":"368","author":"CE Bronner","year":"1994","unstructured":"Bronner CE, Baker SM, Morrison PT et al (1994) Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368:258\u2013261","journal-title":"Nature"},{"key":"1494_CR26","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1093\/hmg\/4.2.237","volume":"4","author":"H-J Han","year":"1995","unstructured":"Han H-J, Maruyama M, Baba S et al (1995) Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC). Hum Molec Genet 4:237\u2013242","journal-title":"Hum Molec Genet"},{"key":"1494_CR27","doi-asserted-by":"crossref","first-page":"1909","DOI":"10.1126\/science.7604264","volume":"268","author":"JT Drummond","year":"1995","unstructured":"Drummond JT, Li G-M, Longley MJ et al (1995) Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. Science 268:1909\u20131912","journal-title":"Science"},{"key":"1494_CR28","doi-asserted-by":"crossref","first-page":"1912","DOI":"10.1126\/science.7604265","volume":"268","author":"F Palombo","year":"1995","unstructured":"Palombo F, Gallinari P, Iaccarino I et al (1995) GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science 268:1912\u20131914","journal-title":"Science"},{"key":"1494_CR29","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/ng1197-271","volume":"17","author":"M Miyaki","year":"1997","unstructured":"Miyaki M, Konishi M, Tanaka K et al (1997) Germline mutation of MSH6\u00a0as the cause of hereditary nonpolyposis colorectal cancer. Nature Genet 17:271\u2013272","journal-title":"Nature Genet"},{"key":"1494_CR30","first-page":"3920","volume":"57","author":"Y Akiyama","year":"1997","unstructured":"Akiyama Y, Sato H, Yamada T et al (1997) Germ-line mutation of the hMSH6\/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 57:3920\u20133923","journal-title":"Cancer Res"},{"key":"1494_CR31","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/371075a0","volume":"371","author":"NC Nicolaides","year":"1994","unstructured":"Nicolaides NC, Papadopoulos N, Liu B et al (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371:75\u201380","journal-title":"Nature"},{"key":"1494_CR32","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1086\/420796","volume":"74","author":"M De Vos","year":"2004","unstructured":"De Vos M, Hayward BE, Picton S et al (2004) Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am J Hum Genet 74:954\u2013964","journal-title":"Am J Hum Genet"},{"key":"1494_CR33","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/S0092-8674(00)80717-5","volume":"97","author":"C Ban","year":"1999","unstructured":"Ban C, Juno M, Yang W (1999) Transformation of MutL by ATP binding and hydrolysis: a switch in DNA mismatch repair. Cell 97:85\u201397","journal-title":"Cell"},{"key":"1494_CR34","doi-asserted-by":"crossref","first-page":"6390","DOI":"10.1128\/MCB.20.17.6390-6398.2000","volume":"20","author":"PT Tran","year":"2000","unstructured":"Tran PT, Liskay RM (2000) Functional studies on the candidate ATPase domains of Saccharomyces cerevisiae MutLalpha. Mol Cell Biol 20:6390\u20136398","journal-title":"Mol Cell Biol"},{"key":"1494_CR35","doi-asserted-by":"crossref","first-page":"21810","DOI":"10.1074\/jbc.M108787200","volume":"277","author":"M R\u00e4schle","year":"2002","unstructured":"R\u00e4schle M, Dufner P, Marra G et al (2002) Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha. J Biol Chem 277:21810\u201321820","journal-title":"J Biol Chem"},{"key":"1494_CR36","doi-asserted-by":"crossref","first-page":"6336","DOI":"10.1074\/jbc.274.10.6336","volume":"274","author":"S Guerrette","year":"1999","unstructured":"Guerrette S, Acharya S, Fishel R (1999) The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. J Biol Chem 274:6336\u20136341","journal-title":"J Biol Chem"},{"key":"1494_CR37","doi-asserted-by":"crossref","first-page":"1695","DOI":"10.1093\/nar\/29.8.1695","volume":"29","author":"E Kondo","year":"2001","unstructured":"Kondo E, Horii A, Fukushige S (2001) The interaction domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2. Nucleic Acids Res 29:1695\u20131708","journal-title":"Nucleic Acids Res"},{"key":"1494_CR38","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1093\/genetics\/132.4.963","volume":"132","author":"RA Reenan","year":"1992","unstructured":"Reenan RA, Kolodner RD (1992) Isolation and characterization of two Saccharomyces cerevisiae genes encoding homologs of the bacterial HexA and MutS mismatch repair proteins. Genetics 132:963\u2013973","journal-title":"Genetics"},{"key":"1494_CR39","doi-asserted-by":"crossref","first-page":"1950","DOI":"10.1073\/pnas.92.6.1950","volume":"92","author":"GM Li","year":"1995","unstructured":"Li GM, Modrich P (1995) Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs. Proc Natl Acad Sci USA 92:1950\u20131954","journal-title":"Proc Natl Acad Sci USA"},{"key":"1494_CR40","doi-asserted-by":"crossref","first-page":"27987","DOI":"10.1074\/jbc.271.45.27987","volume":"271","author":"RE Johnson","year":"1996","unstructured":"Johnson RE, Kovvali GK, Guzder SN et al (1996) Evidence for involvement of yeast proliferating cell nuclear antigen in DNA mismatch repair. J Biol Chem 271:27987\u201327990","journal-title":"J Biol Chem"},{"key":"1494_CR41","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/S0092-8674(00)81323-9","volume":"87","author":"A Umar","year":"1996","unstructured":"Umar A, Buermeyer AB, Simon JA et al (1996) Requirement for PCNA in DNA mismatch repair at a step preceding DNA resynthesis. Cell 87:65\u201373","journal-title":"Cell"},{"key":"1494_CR42","doi-asserted-by":"crossref","first-page":"7487","DOI":"10.1073\/pnas.94.14.7487","volume":"94","author":"DX Tishkoff","year":"1997","unstructured":"Tishkoff DX, Boerger AL, Bertrand P et al (1997) Identification and characterization of Saccharomyces cerevisiae EXO1, a gene encoding an exonuclease that interacts with MSH2. Proc Natl Acad Sci USA 94:7487\u20137492","journal-title":"Proc Natl Acad Sci USA"},{"key":"1494_CR43","doi-asserted-by":"crossref","first-page":"10917","DOI":"10.1074\/jbc.272.16.10917","volume":"272","author":"MJ Longley","year":"1997","unstructured":"Longley MJ, Pierce AJ, Modrich P (1997) DNA polymerase delta is required for human mismatch repair in vitro. J Biol Chem 272:10917\u201310921","journal-title":"J Biol Chem"},{"key":"1494_CR44","first-page":"4537","volume":"58","author":"C Schmutte","year":"1998","unstructured":"Schmutte C, Marinescu RC, Sadoff MM et al (1998) Human exonuclease I interacts with the mismatch repair protein hMSH2. Cancer Res 58:4537\u20134542","journal-title":"Cancer Res"},{"key":"1494_CR45","first-page":"5027","volume":"58","author":"DX Tishkoff","year":"1998","unstructured":"Tishkoff DX, Amin NS, Viars CS et al (1998) Identification of a human gene encoding a homologue of Saccharomyces cerevisiae EXO1, an exonuclease implicated in mismatch repair and recombination. Cancer Res 58:5027\u20135031","journal-title":"Cancer Res"},{"key":"1494_CR46","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1074\/jbc.273.3.1453","volume":"273","author":"YL Lin","year":"1998","unstructured":"Lin YL, Shivji MK, Chen C et al (1998) The evolutionarily conserved zinc finger motif in the largest subunit of human replication protein A is required for DNA replication and mismatch repair but not for nucleotide excision repair. J Biol Chem 273:1453\u20131461","journal-title":"J Biol Chem"},{"key":"1494_CR47","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1093\/nar\/26.5.1173","volume":"26","author":"L Gu","year":"1998","unstructured":"Gu L, Hong Y, McCulloch S et al (1998) ATP-dependent interaction of human mismatch repair proteins and dual role of PCNA in mismatch repair. Nucleic Acids Res 26:1173\u20131178","journal-title":"Nucleic Acids Res"},{"key":"1494_CR48","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/j.cell.2005.06.027","volume":"122","author":"Y Zhang","year":"2005","unstructured":"Zhang Y, Yuan F, Presnell SR et al (2005) Reconstitution of 5\u2032-directed human mismatch repair in a purified system. Cell 122:693\u2013705","journal-title":"Cell"},{"issue":"31","key":"1494_CR49","doi-asserted-by":"crossref","first-page":"19895","DOI":"10.1074\/jbc.273.31.19895","volume":"273","author":"J Genschel","year":"1998","unstructured":"Genschel J, Littman SJ, Drummond JT et al (1998) Isolation of MutSbeta from human cells and comparison of the mismatch repair specificities of MutSbeta and MutSalpha. J Biol Chem 273(31):19895\u201319901","journal-title":"J Biol Chem"},{"issue":"15","key":"1494_CR50","doi-asserted-by":"crossref","first-page":"11730","DOI":"10.1074\/jbc.M110.104125","volume":"285","author":"RR Iyer","year":"2010","unstructured":"Iyer RR, Pluciennik A, Genschel J et al (2010) MutLalpha and proliferating cell nuclear antigen share binding sites on MutSbeta. J Biol Chem 285(15):11730\u201311739","journal-title":"J Biol Chem"},{"issue":"12","key":"1494_CR51","doi-asserted-by":"crossref","first-page":"3217","DOI":"10.1093\/nar\/gkg420","volume":"31","author":"G Plotz","year":"2003","unstructured":"Plotz G, Raedle J, Brieger A et al (2003) N-terminus of hMLH1 confers interaction of hMutLalpha and hMutLbeta with hMutSalpha. Nucleic Acids Res 31(12):3217\u20133226","journal-title":"Nucleic Acids Res"},{"issue":"10","key":"1494_CR52","doi-asserted-by":"crossref","first-page":"e1007074","DOI":"10.1371\/journal.pgen.1007074","volume":"13","author":"BK Dahal","year":"2017","unstructured":"Dahal BK, Kadyrova LY, Delfino KR et al (2017) Involvement of DNA mismatch repair in the maintenance of heterochromatic DNA stability in Saccharomyces cerevisiae. PLoS Genet 13(10):e1007074","journal-title":"PLoS Genet"},{"issue":"5","key":"1494_CR53","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1534\/g3.117.040816","volume":"7","author":"D Villahermosa","year":"2017","unstructured":"Villahermosa D, Christensen O, Knapp K et al (2017) Schizosaccharomyces pombe MutS\u03b1 and MutL\u03b1 maintain stability of tetra-nucleotide repeats and Msh3 of hepta-nucleotide repeats. G3 (Bethesda) 7(5):1463\u20131473","journal-title":"G3 (Bethesda)"},{"issue":"3","key":"1494_CR54","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1038\/ng0398-276","volume":"18","author":"TA Prolla","year":"1998","unstructured":"Prolla TA, Baker SM, Harris AC et al (1998) Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair. Nat Genet 18(3):276\u2013279","journal-title":"Nat Genet"},{"issue":"27","key":"1494_CR55","doi-asserted-by":"crossref","first-page":"3590","DOI":"10.1038\/sj.onc.1204467","volume":"20","author":"AC J\u00e4ger","year":"2001","unstructured":"J\u00e4ger AC, Rasmussen M, Bisgaard HC et al (2001) HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes. Oncogene 20(27):3590\u20133595","journal-title":"Oncogene"},{"issue":"23","key":"1494_CR56","doi-asserted-by":"crossref","first-page":"10759","DOI":"10.1158\/0008-5472.CAN-05-2528","volume":"65","author":"E Cannavo","year":"2005","unstructured":"Cannavo E, Marra G, Sabates-Bellver J et al (2005) Expression of the MutL homologue hMLH3 in human cells and its role in DNA mismatch repair. Cancer Res 65(23):10759\u201310766","journal-title":"Cancer Res"},{"issue":"2","key":"1494_CR57","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.cell.2006.05.039","volume":"126","author":"FA Kadyrov","year":"2006","unstructured":"Kadyrov FA, Dzantiev L, Constantin N et al (2006) Endonucleolytic function of MutLalpha in human mismatch repair. Cell 126(2):297\u2013308","journal-title":"Cell"},{"issue":"13","key":"1494_CR58","doi-asserted-by":"crossref","first-page":"3238","DOI":"10.1038\/sj.emboj.7601754","volume":"26","author":"M Peng","year":"2007","unstructured":"Peng M, Litman R, Xie J, Sharma S, Brosh RM Jr, Cantor SB (2007) The FANCJ\/MutLalpha interaction is required for correction of the cross-link response in FA-J cells. EMBO J 26(13):3238\u20133249","journal-title":"EMBO J"},{"issue":"37","key":"1494_CR59","doi-asserted-by":"crossref","first-page":"16066","DOI":"10.1073\/pnas.1010662107","volume":"107","author":"A Pluciennik","year":"2010","unstructured":"Pluciennik A, Dzantiev L, Iyer RR et al (2010) PCNA function in the activation and strand direction of MutL\u03b1 endonuclease in mismatch repair. Proc Natl Acad Sci USA 107(37):16066\u201316071","journal-title":"Proc Natl Acad Sci USA"},{"key":"1494_CR60","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1146\/annurev.biochem.74.082803.133243","volume":"74","author":"TA Kunkel","year":"2005","unstructured":"Kunkel TA, Erie DA (2005) DNA mismatch repair. Annu Rev Biochem 74:681\u2013710","journal-title":"Annu Rev Biochem"},{"issue":"1","key":"1494_CR61","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/cr.2007.115","volume":"18","author":"GM Li","year":"2008","unstructured":"Li GM (2008) Mechanisms and functions of DNA mismatch repair. Cell Res 18(1):85\u201398","journal-title":"Cell Res"},{"key":"1494_CR62","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1146\/annurev-genet-112414-054722","volume":"49","author":"TA Kunkel","year":"2015","unstructured":"Kunkel TA, Erie DA (2015) Eukaryotic mismatch repair in relation to DNA replication. Annu Rev Genet 49:291\u2013313","journal-title":"Annu Rev Genet"},{"issue":"1","key":"1494_CR63","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1002\/jcp.10077","volume":"191","author":"TM Marti","year":"2002","unstructured":"Marti TM, Kunz C, Fleck O (2002) DNA mismatch repair and mutation avoidance pathways. J Cell Physiol 191(1):28\u201341","journal-title":"J Cell Physiol"},{"issue":"6921","key":"1494_CR64","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1038\/nature01408","volume":"421","author":"EC Friedberg","year":"2003","unstructured":"Friedberg EC (2003) DNA damage and repair. Nature 421(6921):436\u2013440","journal-title":"Nature"},{"issue":"21","key":"1494_CR65","doi-asserted-by":"crossref","first-page":"5107","DOI":"10.1158\/1078-0432.CCR-10-0821","volume":"16","author":"SA Martin","year":"2010","unstructured":"Martin SA, Lord CJ, Ashworth A (2010) Therapeutic targeting of the DNA mismatch repair pathway. Clin Cancer Res 16(21):5107\u20135113","journal-title":"Clin Cancer Res"},{"issue":"6","key":"1494_CR66","doi-asserted-by":"crossref","first-page":"2073","DOI":"10.1053\/j.gastro.2009.12.064","volume":"138","author":"CR Boland","year":"2010","unstructured":"Boland CR, Goel A (2010) Microsatellite instability in colorectal cancer. Gastroenterology 138(6):2073\u20132087","journal-title":"Gastroenterology"},{"issue":"44","key":"1494_CR67","doi-asserted-by":"crossref","first-page":"26395","DOI":"10.1074\/jbc.R115.660142","volume":"290","author":"R Fishel","year":"2015","unstructured":"Fishel R (2015) Mismatch repair. J Biol Chem 290(44):26395\u201326403","journal-title":"J Biol Chem"},{"key":"1494_CR68","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.dnarep.2015.11.012","volume":"38","author":"FS Groothuizen","year":"2016","unstructured":"Groothuizen FS, Sixma TK (2016) The conserved molecular machinery in DNA mismatch repair enzyme structures. DNA Repair (Amst) 38:14\u201323","journal-title":"DNA Repair (Amst)"},{"key":"1494_CR69","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.dnarep.2015.11.017","volume":"38","author":"MM Hingorani","year":"2016","unstructured":"Hingorani MM (2016) Mismatch binding, ADP-ATP exchange and intramolecular signaling during mismatch repair. DNA Repair (Amst) 38:24\u201331","journal-title":"DNA Repair (Amst)"},{"key":"1494_CR70","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.dnarep.2015.11.023","volume":"38","author":"LY Kadyrova","year":"2016","unstructured":"Kadyrova LY, Kadyrov FA (2016) Endonuclease activities of MutL\u03b1 and its homologs in DNA mismatch repair. DNA Repair (Amst) 38:42\u201349","journal-title":"DNA Repair (Amst)"},{"key":"1494_CR71","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1007\/s10689-016-9882-8","volume":"15","author":"P Peltom\u00e4ki","year":"2016","unstructured":"Peltom\u00e4ki P (2016) Update on Lynch syndrome genomics. Fam Cancer 15:385\u2013393","journal-title":"Fam Cancer"},{"key":"1494_CR72","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.mrrev.2017.07.001","volume":"773","author":"D Liu","year":"2017","unstructured":"Liu D, Keijzers G, Rasmussen LJ (2017) DNA mismatch repair and its many roles in eukaryotic cells. Mutat Res 773:174\u2013187","journal-title":"Mutat Res"},{"key":"1494_CR73","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.dnarep.2014.02.014","volume":"20","author":"JB Lee","year":"2014","unstructured":"Lee JB, Cho WK, Park J et al (2014) Single-molecule views of MutS on mismatched DNA. DNA Repair 20:82\u201393","journal-title":"DNA Repair"},{"issue":"3","key":"1494_CR74","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1093\/nar\/30.3.711","volume":"30","author":"G Plotz","year":"2002","unstructured":"Plotz G, Raedle J, Brieger A et al (2002) hMutSalpha forms an ATP-dependent complex with hMutLalpha and hMutLbeta on DNA. Neucleic Acids Res 30(3):711\u2013718","journal-title":"Neucleic Acids Res"},{"issue":"3","key":"1494_CR75","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1016\/j.bbrc.2005.12.096","volume":"340","author":"G Plotz","year":"2006","unstructured":"Plotz G, Piiper A, Wormek M et al (2006) Analysis of the human MutLalpha.MutSalpha. Biochem Biophys Res Commun. 340(3):852\u2013859","journal-title":"Biochem Biophys Res Commun."},{"key":"1494_CR76","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.dnarep.2015.11.013","volume":"38","author":"P Friedhoff","year":"2016","unstructured":"Friedhoff P, Li P, Gotthardt J (2016) Protein-protein interactions in DNA mismatch repair. DNA Repair 38:50\u201357","journal-title":"DNA Repair"},{"issue":"12","key":"1494_CR77","doi-asserted-by":"crossref","first-page":"3281","DOI":"10.1073\/pnas.1523748113","volume":"113","author":"Y Jeon","year":"2016","unstructured":"Jeon Y, Kim D, Martin-Lopez JV et al (2016) Dynamic control of strand excision during human DNA mismatch repair. Proc Natl Acad Sci USA 113(12):3281\u20133286","journal-title":"Proc Natl Acad Sci USA"},{"issue":"14","key":"1494_CR78","doi-asserted-by":"crossref","first-page":"2096","DOI":"10.1101\/gad.12.14.2096","volume":"12","author":"R Fishel","year":"1998","unstructured":"Fishel R (1998) Mismatch repair, molecular switches, and signal transduction. Genes Dev 12(14):2096\u20132101","journal-title":"Genes Dev"},{"issue":"1","key":"1494_CR79","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/S0092-8674(00)80717-5","volume":"97","author":"C Ban","year":"1999","unstructured":"Ban C, Junop M, Yang W (1999) Transformation of MutL by ATP binding and hydrolysis: a switch in DNA mismatch repair. Cell 97(1):85\u201397","journal-title":"Cell"},{"issue":"13","key":"1494_CR80","doi-asserted-by":"crossref","first-page":"9863","DOI":"10.1074\/jbc.275.13.9863","volume":"275","author":"C Spampinato","year":"2000","unstructured":"Spampinato C, Modrich P (2000) The MutL ATPase is required for mismatch repair. J Biol Chem 275(13):9863\u20139869","journal-title":"J Biol Chem"},{"issue":"3","key":"1494_CR81","first-page":"746","volume":"22","author":"MH Lamers","year":"2003","unstructured":"Lamers MH, Winterwerp HH, Sixma TK (2003) The alternating ATPase domains of MutS control DNA mismatch repair. ENBO J 22(3):746\u2013756","journal-title":"ENBO J"},{"issue":"1","key":"1494_CR82","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/S0959-437X(99)80013-6","volume":"9","author":"RD Kolodner","year":"1999","unstructured":"Kolodner RD, Marsischky GT (1999) Eukaryotic DNA mismatch repair. Curr Opin Genet Dev 9(1):89\u201396","journal-title":"Curr Opin Genet Dev"},{"issue":"7","key":"1494_CR83","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1093\/hmg\/10.7.735","volume":"10","author":"P Peltom\u00e4ki","year":"2001","unstructured":"Peltom\u00e4ki P (2001) Deficient DNA mismatch repair: a common etiologic factor for colon cancer. Hum Mol Genet 10(7):735\u2013740","journal-title":"Hum Mol Genet"},{"issue":"11","key":"1494_CR84","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1038\/sj.cdd.4400948","volume":"8","author":"A Bellacosa","year":"2001","unstructured":"Bellacosa A (2001) Functional interactions and signaling properties of mammalian DNA mismatch repair proteins. Cell Death Differ 8(11):1076\u20131092","journal-title":"Cell Death Differ"},{"key":"1494_CR85","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.dnarep.2015.11.008","volume":"38","author":"MHM Scmidt","year":"2016","unstructured":"Scmidt MHM, Pearson CE (2016) Disease associated repeat instability and mismatch repair. DNA Repair 38:117\u2013126","journal-title":"DNA Repair"},{"issue":"11","key":"1494_CR86","doi-asserted-by":"publisher","first-page":"e50541","DOI":"10.1371\/journal.pone.0050541","volume":"7","author":"C Campregher","year":"2012","unstructured":"Campregher C, Schmid G, Ferk F et al (2012) MSH3-deficiency initiates EMAST without oncogenic transformation of human colon epithelialcells. PLoS One 7(11):e50541. https:\/\/doi.org\/10.1371\/journal.pone.0050541 (Epub 2012 Nov 27)","journal-title":"PLoS One"},{"issue":"11","key":"1494_CR87","doi-asserted-by":"publisher","first-page":"e50616","DOI":"10.1371\/journal.pone.0050616","volume":"7","author":"SS Tseng-Rogenski","year":"2012","unstructured":"Tseng-Rogenski SS, Chung H, Wilk M et al (2012) Oxidative stress induces nuclear-to-cytosol shift of hMSH3, a potential mechanism for EMAST in colorectal cancer cells. PLoS One 7(11):e50616. https:\/\/doi.org\/10.1371\/journal.pone.0050616 (Epub 2012 Nov 30)","journal-title":"PLoS One"},{"issue":"5","key":"1494_CR88","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1038\/bjc.2014.167","volume":"111","author":"MMC Watson","year":"2014","unstructured":"Watson MMC, Berg M, S\u00f8reide K (2014) Prevalence and implications of elevated microsatellite alterations at selected tetranucleotides in cancer. Br J Cancer 111(5):823\u2013827","journal-title":"Br J Cancer"},{"issue":"2","key":"1494_CR89","doi-asserted-by":"crossref","first-page":"185","DOI":"10.3390\/genes6020185","volume":"6","author":"JM Carethers","year":"2015","unstructured":"Carethers JM, Koi M, Tseng-Rogenski SS (2015) EMAST is a form of microsatellite instability that is initiated by inflammation and modulates colorectal cancer progression. Genes 6(2):185\u2013205","journal-title":"Genes"},{"issue":"4","key":"1494_CR90","doi-asserted-by":"publisher","first-page":"e0124538","DOI":"10.1371\/journal.pone.0124538.eCollection","volume":"10","author":"S Venderbosch","year":"2015","unstructured":"Venderbosch S, van Lent-van Vliet S, de Haan AF et al (2015) EMAST is associated with a poor prognosis in microsatellite instable metastatic colorectal cancer. PLoS One 10(4):e0124538. https:\/\/doi.org\/10.1371\/journal.pone.0124538.eCollection","journal-title":"PLoS One"},{"key":"1494_CR91","doi-asserted-by":"crossref","first-page":"G233","DOI":"10.1152\/ajpgi.00069.2014","volume":"308","author":"E Doll\u00e9","year":"2015","unstructured":"Doll\u00e9 E, Theise ND, Schmelzer E et al (2015) EpCAM and the biology of hepatic stem\/progenitor cells. Am J Physiol Gastrointest Liver Physiol 308:G233\u2013G250","journal-title":"Am J Physiol Gastrointest Liver Physiol"},{"issue":"4","key":"1494_CR92","first-page":"1771","volume":"42","author":"L Huang","year":"2018","unstructured":"Huang L, Yang Y, Yang F et al (2018) Functions of EpCAM in physiological processes and diseases. Int J Mol Med 42(4):1771\u20131785","journal-title":"Int J Mol Med"},{"issue":"2","key":"1494_CR93","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/humu.20942","volume":"30","author":"ME Kovacs","year":"2009","unstructured":"Kovacs ME, Papp J, Szentirmay Z et al (2009) Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum Mutat 30(2):197\u2013203","journal-title":"Hum Mutat"},{"issue":"2","key":"1494_CR94","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1053\/j.gastro.2008.05.036","volume":"135","author":"M Sivagnanam","year":"2008","unstructured":"Sivagnanam M, Mueller JL, Lee H et al (2008) Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterol 135(2):429\u2013437","journal-title":"Gastroenterol"},{"issue":"3","key":"1494_CR95","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1097\/00005176-199404000-00022","volume":"18","author":"RM Reifen","year":"1994","unstructured":"Reifen RM, Cutz E, Griffiths AM et al (1994) Tufting enteropathy: a newly recognized clinicopathological entity associated with refractory diarrhea in infants. J Pediatr Gastroenterol Nutr 18(3):379\u2013385","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"1","key":"1494_CR96","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1750-1172-2-20","volume":"2","author":"O Goulet","year":"2007","unstructured":"Goulet O, Salomon J, Ruemmele F et al (2007) Intestinal epithelial dysplasia (tufting enteropathy). Orphanet J Rare Dis 2(1):20","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"1494_CR97","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1002\/humu.23688","volume":"40","author":"SJ Pathak","year":"2019","unstructured":"Pathak SJ, Mueller JL, Okamoto K et al (2019) EPCAM mutation update: variants associated with congenital tufting enteropathy and Lynch syndrome. Hum Mutat 40(2):142\u2013161","journal-title":"Hum Mutat"},{"issue":"6","key":"1494_CR98","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1136\/jmedgenet-2014-102284","volume":"51","author":"K Wimmer","year":"2014","unstructured":"Wimmer K, Kratz CP, Vasen HFA et al (2014) Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium \u2018care for CMMRD\u2019 (C4CMMRD). J Med Genet 51(6):355\u2013365","journal-title":"J Med Genet"},{"issue":"2","key":"1494_CR99","first-page":"290","volume":"59","author":"MD Ricciardone","year":"1999","unstructured":"Ricciardone MD, Oz\u00e7elik T, Cevher B et al (1999) Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res 59(2):290\u2013293","journal-title":"Cancer Res"},{"issue":"2","key":"1494_CR100","first-page":"294","volume":"59","author":"Q Wang","year":"1999","unstructured":"Wang Q, Lasset C, Desseigne F et al (1999) Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res 59(2):294\u2013297","journal-title":"Cancer Res"},{"key":"1494_CR101","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1007\/BF02616938","volume":"2","author":"J Turcot","year":"1959","unstructured":"Turcot J, Despres JP, St Pierre F et al (1959) Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases. Dis Colon Rectum 2:465\u2013468","journal-title":"Dis Colon Rectum"},{"issue":"13","key":"1494_CR102","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1056\/NEJM199503303321302","volume":"332","author":"SR Hamilton","year":"1995","unstructured":"Hamilton SR, Liu B, Parsons RE et al (1995) The molecular basis of Turcot\u2019s syndrome. N Engl J Med 332(13):839\u2013847","journal-title":"N Engl J Med"},{"issue":"11","key":"1494_CR103","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1136\/jmedgenet-2015-103299","volume":"52","author":"N Lavoine","year":"2015","unstructured":"Lavoine N, Colas C, Muleris M et al (2015) Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. J Med Genet 52(11):770\u2013778","journal-title":"J Med Genet"},{"issue":"5","key":"1494_CR104","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1007\/BF02616938","volume":"2","author":"J Turcot","year":"1959","unstructured":"Turcot J, Despres JP, St Pierre F (1959) Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases. Dis Colon Rectum 2(5):465\u2013468","journal-title":"Dis Colon Rectum"},{"issue":"1","key":"1494_CR105","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1097\/GIM.0b013e31818fa2ff","volume":"11","author":"Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group","year":"2009","unstructured":"Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group (2009) 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(1):35\u201341","journal-title":"Genet Med"},{"issue":"8","key":"1494_CR106","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1038\/ajg.2014.186","volume":"109","author":"FM Giardiello","year":"2014","unstructured":"Giardiello FM, Allen JI, Axilbund JE et al (2014) Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multisociety Task Force on colorectal cancer. Am J Gastroenterol 109(8):1159\u20131179","journal-title":"Am J Gastroenterol"},{"issue":"2","key":"1494_CR107","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/ajg.2014.435","volume":"110","author":"S Syngal","year":"2015","unstructured":"Syngal S, Brand RE, Church JM et al (2015) ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 110(2):223\u2013262","journal-title":"Am J Gastroenterol"},{"issue":"22","key":"1494_CR108","first-page":"5248","volume":"58","author":"CR Boland","year":"1998","unstructured":"Boland CR, Thibodeau SN, Hamilton SR et al (1998) A National Cancer Institute Workshop on Microsatellite Instability for Cancer Detection and Familial Predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 58(22):5248\u20135257","journal-title":"Cancer Res"},{"issue":"6429","key":"1494_CR109","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1038\/363558a0","volume":"363","author":"Y Ionov","year":"1993","unstructured":"Ionov Y, Peinado MA, Malkhosyan S et al (1993) Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 363(6429):558\u2013561","journal-title":"Nature"},{"key":"1494_CR110","first-page":"810","volume":"260","author":"P Peltom\u00e4ki","year":"1993","unstructured":"Peltom\u00e4ki P, Aaltonen LA, Sistonen P et al (1993) Genetic mapping of a locus predisposing to human colorectal cancer. Nature 260:810\u2013812","journal-title":"Nature"},{"issue":"5109","key":"1494_CR111","first-page":"816","volume":"260","author":"SN Thibodeau","year":"1993","unstructured":"Thibodeau SN, Bren G, Schaid D (1993) Microsatellite instability in cancer of the proximal colon. Nature 260(5109):816\u2013819","journal-title":"Nature"},{"issue":"23","key":"1494_CR112","doi-asserted-by":"crossref","first-page":"1758","DOI":"10.1093\/jnci\/89.23.1758","volume":"89","author":"MA Rodriguez-Bigas","year":"1997","unstructured":"Rodriguez-Bigas MA, Boland CR, Hamilton SR et al (1997) A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89(23):1758\u20131762","journal-title":"J Natl Cancer Inst"},{"issue":"2","key":"1494_CR113","first-page":"235","volume":"56","author":"FS Leach","year":"1996","unstructured":"Leach FS, Polyak K, Burrell M et al (1996) Expression of the human mismatch repair gene hMSH2 in normal and neoplastic tissues. Cancer Res 56(2):235\u2013240","journal-title":"Cancer Res"},{"issue":"21","key":"1494_CR114","first-page":"4836","volume":"56","author":"SN Thibodeau","year":"1996","unstructured":"Thibodeau SN, French AJ, Roche PC et al (1996) Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes. Cancer Res 56(21):4836\u20134840","journal-title":"Cancer Res"},{"issue":"2","key":"1494_CR115","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/S0002-9440(10)63841-2","volume":"162","author":"Y Hendriks","year":"2003","unstructured":"Hendriks Y, Franken P, Dierssen JW et al (2003) Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors. Am J Pathol 162(2):469\u2013477","journal-title":"Am J Pathol"},{"issue":"39","key":"1494_CR116","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1158\/1078-0432.CCR-0956-3","volume":"10","author":"AE de Jong","year":"2004","unstructured":"de Jong AE, van Puijenbroek M, Hendriks Y et al (2004) Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer res 10(39):972\u2013980","journal-title":"Clin Cancer res"},{"issue":"1","key":"1494_CR117","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/71643","volume":"24","author":"SM Lipkin","year":"2000","unstructured":"Lipkin SM, Wang V, Jacoby R et al (2000) MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. Nat Genet 24(1):27\u201335","journal-title":"Nat Genet"},{"issue":"6","key":"1494_CR118","doi-asserted-by":"crossref","first-page":"694","DOI":"10.5858\/2003-127-694-MIICC","volume":"127","author":"V Rigau","year":"2003","unstructured":"Rigau V, Sebbagh N, Olschwang S et al (2003) Microsatellite instability in colorectal carcinoma. The comparison of immunohistochemistry and molecular biology suggests a role for hMSH6 [correction of hMLH6] immunostaining. Arch Pathol Lab Med 127(6):694\u2013700","journal-title":"Arch Pathol Lab Med"},{"issue":"18","key":"1494_CR119","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1056\/NEJMoa043146","volume":"352","author":"H Hampel","year":"2005","unstructured":"Hampel H, Frankel WL, Martin E et al (2005) Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 352(18):1851\u20131860","journal-title":"N Engl J Med"},{"issue":"4","key":"1494_CR120","doi-asserted-by":"crossref","first-page":"213","DOI":"10.3322\/canjclin.56.4.213","volume":"56","author":"YMC Hendriks","year":"2006","unstructured":"Hendriks YMC, de Jong AE, Morreau H et al (2006) Dianostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians. CA Cancer J Clin 56(4):213\u2013225","journal-title":"CA Cancer J Clin"},{"issue":"51","key":"1494_CR121","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3310\/hta21510","volume":"21","author":"T Snowsill","year":"2017","unstructured":"Snowsill T, Coelho H, Huxley N et al (2017) Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation. Health Technol Assess 21(51):1\u2013238","journal-title":"Health Technol Assess"},{"issue":"2","key":"1494_CR122","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1309\/AJCPB9FOVH1HGKFR","volume":"140","author":"M Jin","year":"2013","unstructured":"Jin M, Hampel H, Zhou X et al (2013) BRAF V600E mutation analysis simplifies the testing algorithm for Lynch Syndrome. Am J Clin Pathol 140(2):177\u2013183","journal-title":"Am J Clin Pathol"},{"issue":"5","key":"1494_CR123","doi-asserted-by":"crossref","first-page":"2823","DOI":"10.3892\/or.2016.5060","volume":"36","author":"K Lagerstedt-Robinson","year":"2016","unstructured":"Lagerstedt-Robinson K, Rohlin A, Aravidis C et al (2016) Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. Oncol Rep 36(5):2823\u20132835","journal-title":"Oncol Rep"},{"issue":"2","key":"1494_CR124","doi-asserted-by":"publisher","first-page":"e293","DOI":"10.1016\/j.clcc.2018.01.001","volume":"17","author":"M Lorans","year":"2018","unstructured":"Lorans M, Dow E, Macrae FA et al (2018) Update on hereditary colorectal cancer: improving the clinical utility of multigene panel testing. Clin Colorectal Cancer 17(2):e293\u2013e305. https:\/\/doi.org\/10.1016\/j.clcc.2018.01.001 (Epub 2018 Jan 11)","journal-title":"Clin Colorectal Cancer"},{"issue":"18","key":"1494_CR125","doi-asserted-by":"crossref","first-page":"2084","DOI":"10.1200\/JCO.2014.59.3665","volume":"33","author":"CJ Gallego","year":"2015","unstructured":"Gallego CJ, Shirts BH, Bennette CS et al (2015) Next-generations sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: a cost-effectiveness analysis. J Clin Oncol 33(18):2084\u20132091","journal-title":"J Clin Oncol"},{"issue":"22","key":"1494_CR126","doi-asserted-by":"crossref","first-page":"2568","DOI":"10.1200\/JCO.2016.71.9260","volume":"35","author":"CR Espenschied","year":"2017","unstructured":"Espenschied CR, LaDuca H, Li S et al (2017) Multigene panel testing provides a new perspective on Lynch syndrome. J Clin Oncol 35(22):2568\u20132575","journal-title":"J Clin Oncol"},{"issue":"10","key":"1494_CR127","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1200\/JCO.2016.71.0012","volume":"35","author":"MB Yurgelun","year":"2017","unstructured":"Yurgelun MB, Kulke MH, Fuchs CS et al (2017) Cancer susceptibility gene mutations in individuals with colorectal cancer. J Clin Oncol 35(10):1086\u20131095","journal-title":"J Clin Oncol"},{"issue":"12","key":"1494_CR128","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1038\/ng.2854","volume":"46","author":"BA Thompson","year":"2014","unstructured":"Thompson BA, Spurdle AB, Plazzer JP et al (2014) 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(12):107\u2013115","journal-title":"Nat Genet"},{"issue":"10","key":"1494_CR129","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1038\/gim.2017.254","volume":"20","author":"ME Roberts","year":"2018","unstructured":"Roberts ME, Jackson SA, Susswein LR et al (2018) MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer. Genet Med 20(10):1167\u20131174","journal-title":"Genet Med"},{"issue":"2","key":"1494_CR130","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/s10689-013-9616-0","volume":"12","author":"JP Plazzer","year":"2013","unstructured":"Plazzer JP, Sijmons RH, Woods MO et al (2013) The InSiGHT database: utilizing 100\u00a0years of insights into Lynch syndrome. Fam Cancer 12(2):175\u2013180","journal-title":"Fam Cancer"},{"issue":"5256","key":"1494_CR131","doi-asserted-by":"crossref","first-page":"1734","DOI":"10.1126\/science.271.5256.1734","volume":"271","author":"DR Leach","year":"1996","unstructured":"Leach DR, Krummel MF, Allison JP (1996) Enhancement of antitumor immunity by CTLA-4 blockade. Science 271(5256):1734\u20131736","journal-title":"Science"},{"issue":"11","key":"1494_CR132","doi-asserted-by":"crossref","first-page":"3887","DOI":"10.1002\/j.1460-2075.1992.tb05481.x","volume":"11","author":"Y Ishida","year":"1992","unstructured":"Ishida Y, Agata Y, Shibahara K, Honjo T (1992) Induced expression of PD-1, a novel member of the immunoglobulin gene superfamily, upon programmed cell death. EMBO J 11(11):3887\u20133895","journal-title":"EMBO J"},{"issue":"5","key":"1494_CR133","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/1074-7613(95)90125-6","volume":"3","author":"EA Tivol","year":"1995","unstructured":"Tivol EA, Borriello F, Schweitzer AN et al (1995) Loss of CTLA-4 leads to massive lymphoproliferation and fatal multiorgan tissue destruction, revealing a critical negative regulatory role of CTLA-4. Immunity 3(5):541\u2013547","journal-title":"Immunity"},{"issue":"2","key":"1494_CR134","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/S1074-7613(00)80089-8","volume":"11","author":"H Nishimura","year":"1999","unstructured":"Nishimura H, Nose M, Hiai H et al (1999) Development of lupus-like autoimmune diseases by disruption of the PD-1 gene encoding an ITIM motif-carrying immunoreceptor. Immunity 11(2):141\u2013151","journal-title":"Immunity"},{"issue":"26","key":"1494_CR135","doi-asserted-by":"crossref","first-page":"2443","DOI":"10.1056\/NEJMoa1200690","volume":"366","author":"SL Topalian","year":"2012","unstructured":"Topalian SL, Hodi S, Brahmer JR et al (2012) Safety, activity, and immune correlates of anti-PD-1 antibody in cancer. N Engl J Med 366(26):2443\u20132454","journal-title":"N Engl J Med"},{"issue":"26","key":"1494_CR136","doi-asserted-by":"crossref","first-page":"2509","DOI":"10.1056\/NEJMoa1500596","volume":"372","author":"DT Le","year":"2015","unstructured":"Le DT, Uram JN, Wang H et al (2015) PD-1 blockade in tumors with mismatch-repair deficiency. N Engl J Med 372(26):2509\u20132520","journal-title":"N Engl J Med"},{"key":"1494_CR137","doi-asserted-by":"crossref","first-page":"2189","DOI":"10.1056\/NEJMoa1406498","volume":"371","author":"A Snyder","year":"2014","unstructured":"Snyder A, Makarov V, Merghoub T et al (2014) Genetic basis for clinical response to CTLA-4 blockade in melanoma. N Engl J Med 371:2189\u20132199","journal-title":"N Engl J Med"},{"issue":"6230","key":"1494_CR138","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1126\/science.aaa1348","volume":"348","author":"NA Rizvi","year":"2015","unstructured":"Rizvi NA, Hellmann MD, Snyder A et al (2015) Cancer immunology. Mutational landscape determines sensitivity to PD-1blockade in non-small cell lung cancer. Science 348(6230):124\u2013128","journal-title":"Science"},{"issue":"25","key":"1494_CR139","doi-asserted-by":"crossref","first-page":"2500","DOI":"10.1056\/NEJMc1713444","volume":"377","author":"M Yarchoan","year":"2018","unstructured":"Yarchoan M, Hopkins A, Jaffee EM et al (2018) Tumor mutational burden and response rate to PD-1 inhibition. N Engl J Med 377(25):2500\u20132501","journal-title":"N Engl J Med"},{"issue":"1","key":"1494_CR140","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1186\/s13073-017-0424-2","volume":"9","author":"ZR Charmers","year":"2017","unstructured":"Charmers ZR, Connelly CF, Fabrizio D et al (2017) Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden. Genome Med 9(1):34. https:\/\/doi.org\/10.1186\/s13073-017-0424-2","journal-title":"Genome Med"},{"issue":"4","key":"1494_CR141","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1158\/1078-0432.CCR-15-1678","volume":"22","author":"JC Dudley","year":"2016","unstructured":"Dudley JC, Lin MT, Le DT et al (2016) Microsatellite instability as a biomarker for PD-1 blockade. Clin Cancer Res 22(4):813\u2013820","journal-title":"Clin Cancer Res"},{"issue":"6349","key":"1494_CR142","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1126\/science.aan6733","volume":"357","author":"DT Le","year":"2017","unstructured":"Le DT, Durham JN, Smith KN et al (2017) Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. Science 357(6349):409\u2013413","journal-title":"Science"}],"updated-by":[{"DOI":"10.1007\/s10147-019-01515-w","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2019,7,31]],"date-time":"2019-07-31T00:00:00Z","timestamp":1564531200000}}],"container-title":["International Journal of Clinical Oncology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10147-019-01494-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10147-019-01494-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10147-019-01494-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T22:14:24Z","timestamp":1663884864000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10147-019-01494-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,4]]},"references-count":142,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["1494"],"URL":"https:\/\/doi.org\/10.1007\/s10147-019-01494-y","relation":{"correction":[{"id-type":"doi","id":"10.1007\/s10147-019-01515-w","asserted-by":"object"}]},"ISSN":["1341-9625","1437-7772"],"issn-type":[{"value":"1341-9625","type":"print"},{"value":"1437-7772","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,4]]},"assertion":[{"value":"11 June 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 June 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 July 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 July 2019","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"In the original publication, part d of Figure\u00a02 was mistakenly not included.","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare no potential conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}