Pearlman R, Frankel WL, Swanson B, Zhao W, Yilmaz A, Miller K, et al. Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer. JAMA Oncol. 2017;3:464–71.

Article  PubMed  PubMed Central  Google Scholar 

Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, et al. Cancer susceptibility gene mutations in individuals with colorectal cancer. J Clin Oncol. 2017;35:1086–95.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dominguez-Valentin M, Sampson JR, Seppälä TT, ten Broeke SW, Plazzer J-P, Nakken S, et al. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database. Genet Med. 2020;22:15–25.

Article  CAS  PubMed  Google Scholar 

Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005;352:1851–60.

Article  CAS  PubMed  Google Scholar 

Møller P, Seppälä T, Bernstein I, Holinski-Feder E, Sala P, Evans DG, et al. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut. 2017;66:464–72.

Article  PubMed  Google Scholar 

Boland PM, Yurgelun MB, Boland CR. Recent progress in lynch syndrome and other familial colorectal cancer syndromes. CA Cancer J Clin. 2018;68:217–31.

Article  PubMed  PubMed Central  Google Scholar 

Seppälä TT, Latchford A, Negoi I, Sampaio Soares A, Jimenez-Rodriguez R, Sánchez-Guillén L, et al. European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender. Br J Surg. 2021;108:484–98.

Article  PubMed  Google Scholar 

Crosbie EJ, Ryan NAJ, Arends MJ, Bosse T, Burn J, Cornes JM, et al. The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome. Genet Med J Am Coll Med Genet. 2019;21:2390–400.

Google Scholar 

Grindedal EM, Renkonen-Sinisalo L, Vasen H, Evans G, Sala P, Blanco I, et al. Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds. J Med Genet. 2010;47:99–102.

Article  CAS  PubMed  Google Scholar 

Schmeler KM, Lu KH. Gynecologic cancers associated with Lynch syndrome/HNPCC. Clin Transl Oncol. 2008;10:313–7.

Article  CAS  PubMed  Google Scholar 

Therkildsen C, Jensen LH, Rasmussen M, Bernstein I. An update on immune checkpoint therapy for the treatment of Lynch syndrome. Clin Exp Gastroenterol. 2021;14:181–97.

Article  CAS  PubMed  PubMed Central  Google Scholar 

StCharles JA, Liberti SE, Williams JS, Lujan SA, Kunkel TA. Quantifying the contributions of base selectivity, proofreading and mismatch repair to nuclear DNA replication in Saccharomyces cerevisiae. DNA Repair. 2015;31:41–51.

Article  CAS  Google Scholar 

Huang Y, Li G-M. DNA mismatch repair preferentially safeguards actively transcribed genes. DNA Repair. 2018;71:82–6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Preston BD, Albertson TM, Herr AJ. DNA replication fidelity and cancer. Semin Cancer Biol 2010;20:281–93.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hitchins MP. Inheritance of epigenetic aberrations (constitutional epimutations) in cancer susceptibility. Adv Genet. 2010;70:201–43.

Article  CAS  PubMed  Google Scholar 

Hitchins MP, Ward RL. Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J Med Genet. 2009;46:793–802.

Article  CAS  PubMed  Google Scholar 

Ward RL, Dobbins T, Lindor NM, Rapkins RW, Hitchins MP. Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry. Genet Med. 2013;15:25–35.

Article  CAS  PubMed  Google Scholar 

Ligtenberg MJL, Kuiper RP, Chan TL, Goossens M, Hebeda KM, Voorendt M, 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;41:112–7.

Article  CAS  PubMed  Google Scholar 

Duraturo F, Liccardo R, Cavallo A, De Rosa M, Grosso M, Izzo P. Association of low-risk MSH3 and MSH2 variant alleles with Lynch syndrome: probability of synergistic effects. Int J Cancer. 2011;129:1643–50.

Article  CAS  PubMed  Google Scholar 

Jiricny J. The multifaceted mismatch-repair system. Nat Rev Mol Cell Biol. 2006;7:335–46.

Article  CAS  PubMed  Google Scholar 

Dufner P, Marra G, Räschle M, Jiricny J. Mismatch recognition and DNA-dependent stimulation of the ATPase activity of hMutSα is abolished by a single mutation in the hMSH6 subunit *. J Biol Chem. 2000;275:36550–5.

Article  CAS  PubMed  Google Scholar 

Gupta S, Gellert M, Yang W. Mechanism of mismatch recognition revealed by human MutSβ bound to unpaired DNA loops. Nat Struct Mol Biol. 2012;19:72–8.

Article  CAS  Google Scholar 

Reyes GX, Schmidt TT, Kolodner RD, Hombauer H. New insights into the mechanism of DNA mismatch repair. Chromosoma. 2015;124:443–62.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Groothuizen FS, Winkler I, Cristóvão M, Fish A, Winterwerp HH, Reumer A, et al. MutS/MutL crystal structure reveals that the MutS sliding clamp loads MutL onto DNA. eLife. 2015;4:e06744.

Article  PubMed  PubMed Central  Google Scholar 

Bowen N, Smith CE, Srivatsan A, Willcox S, Griffith JD, Kolodner RD. Reconstitution of long and short patch mismatch repair reactions using Saccharomyces cerevisiae proteins. Proc Natl Acad Sci USA. 2013;110:18472–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jiricny J. Postreplicative mismatch repair. Cold Spring Harb Perspect Biol. 2013;5:a012633.

Article  PubMed  PubMed Central  Google Scholar 

Groothuizen FS, Sixma TK. The conserved molecular machinery in DNA mismatch repair enzyme structures. DNA Repair. 2016;38:14–23.

Article  CAS  PubMed  Google Scholar 

Gueneau E, Dherin C, Legrand P, Tellier-Lebegue C, Gilquin B, Bonnesoeur P, et al. Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site. Nat Struct Mol Biol 2013;20:461–8.

Article  CAS  PubMed  Google Scholar 

Goellner EM, Putnama CD, Kolodnera RD. Exonuclease 1-dependent and independent mismatch repair. DNA Repair. 2015;32:24–32.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cannavo E, Sanchez A, Anand R, Ranjha L, Hugener J, Adam C, et al. Regulation of the MLH1–MLH3 endonuclease in meiosis. Nature. 2020;586:618–22.

Article  CAS  PubMed  Google Scholar 

Kadyrova LY, Gujar V, Burdett V, Modrich PL, Kadyrov FA. Human MutLγ, the MLH1–MLH3 heterodimer, is an endonuclease that promotes DNA expansion. Proc Natl Acad Sci USA. 2020;117:3535–42.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Campbell CS, Hombauer H, Srivatsan A, Bowen N, Gries K, Desai A, et al. Mlh2 is an accessory factor for DNA mismatch repair in Saccharomyces cerevisiae. PLOS Genet. 2014;10:e1004327.

Article  PubMed  PubMed Central  Google Scholar 

Gupta D, Heinen CD. The mismatch repair-dependent DNA damage response: mechanisms and implications. DNA Repair. 2019;78:60–9.

Article  CAS  PubMed  Google Scholar 

Lynch HT, Snyder CL, Shaw TG, Heinen CD, Hitchins MP. Milestones of Lynch syndrome: 1895–2015. Nat Rev Cancer. 2015;15:181–94.

Article  CAS  PubMed  Google Scholar 

De’ Angelis GL, Bottarelli L, Azzoni C, De’ Angelis N, Leandro G, Di Mario F, et al. Microsatellite instability in colorectal cancer. Acta Bio-Med Atenei Parm. 2018;89:97–101.

Google Scholar 

Imai K, Yamamoto H. Carcinogenesis and microsatellite instability: the interrelationship between genetics and epigenetics. Carcinogenesis. 2008;29:673–80.

Article  CAS  PubMed  Google Scholar 

Yamamoto H, Imai K. Microsatellite instability: an update. Arch Toxicol. 2015;89:899–921.

Article  CAS  PubMed