Idos G, Valle L. Lynch syndrome. Seattle: University of Washington; 1993.
Lynch HT, Snyder CL, Shaw TG, Heinen CD, Hitchins MP. Milestones of Lynch syndrome: 1895–2015. Nat Rev Cancer. 2015;15:181–94.
Hitchins MP. The role of epigenetics in Lynch syndrome. Fam Cancer. 2013;12:189–205.
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.
Kuiper RP, Vissers LELM, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M, et al. Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Hum Mutat. 2011;32:407–14.
Hesson LB, Hitchins MP, Ward RL. Epimutations and cancer predisposition: importance and mechanisms. Curr Opin Genet Dev. 2010;20:290–8.
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.
Hitchins MP. Constitutional epimutation as a mechanism for cancer causality and heritability? Nat Rev Cancer. 2015;15:625–34.
Hitchins MP. Finding the needle in a haystack: identification of cases of Lynch syndrome with MLH1 epimutation. Fam Cancer. 2016;15:413–22.
Dámaso E, Castillejo A, del Arias M, Canet-Hermida J, Navarro M, Del Valle J, et al. Primary constitutional MLH1 epimutations: a focal epigenetic event. Br J Cancer. 2018;119:978–87.
Article PubMed PubMed Central Google Scholar
Cini G, Carnevali I, Quaia M, Chiaravalli AM, Sala P, Giacomini E, et al. Concomitant mutation and epimutation of the MLH1 gene in a Lynch syndrome family. Carcinogenesis. 2015;36:452–8.
Gylling A, Ridanpää M, Vierimaa O, Aittomäki K, Avela K, Kääriäinen H, et al. Large genomic rearrangements and germline epimutations in Lynch syndrome. Int J Cancer. 2009;124:2333–40.
Kwok CT, Ward RL, Hawkins NJ, Hitchins MP. Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome. Fam Cancer. 2010;9:345–56.
Leclerc J, Flament C, Lovecchio T, Delattre L, Ait Yahya E, Baert-Desurmont S, et al. Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation. Genet Med. 2018;20:1589–99.
Morak M, Schackert HK, Rahner N, Betz B, Ebert M, Walldorf C, et al. Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC. Eur J Hum Genet. 2008;16:804–11.
Pinto D, Pinto C, Guerra J, Pinheiro M, Santos R, Vedeld HM, et al. Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation. Cancer Med. 2018;7:433–44.
Article PubMed PubMed Central 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.
Goodfellow PJ, Buttin BM, Herzog TJ, Rader JS, Gibb RK, Swisher E, et al. Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. Proc Natl Acad Sci U S A. 2003;100:5908–13.
Article PubMed PubMed Central Google Scholar
Inamura K. Colorectal cancers: an update on their molecular pathology. Cancers (Basel). 2018;10:26.
Pasanen A, Loukovaara M, Bützow R. Clinicopathological significance of deficient DNA mismatch repair and MLH1 promoter methylation in endometrioid endometrial carcinoma. Mod Pathol. 2020;33:1443–52.
Hesson LB, Patil V, Sloane MA, Nunez AC, Liu J, Pimanda JE, et al. Reassembly of nucleosomes at the MLH1 promoter initiates resilencing following decitabine exposure. PLoS Genet. 2013;9:e1003636.
Article PubMed PubMed Central Google Scholar
Wang X, Fan J, Liu D, Fu S, Ingvarsson S, Chen H. Spreading of Alu methylation to the promoter of the MLH1 gene in gastrointestinal cancer. PLoS ONE. 2011;6:e25913.
Article PubMed PubMed Central Google Scholar
Deng G, Bell I, Crawley S, Gum J, Terdiman JP, Allen BA, et al. BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer. Clin Cancer Res. 2004;10(1 Pt 1):191–5.
Fang M, Ou J, Hutchinson L, Green MR. The BRAF oncoprotein functions through the transcriptional repressor MAFG to mediate the CpG island methylator phenotype. Mol Cell. 2014;55:904–15.
Article PubMed PubMed Central Google Scholar
Thomas R, Trapani D, Goodyer-Sait L, Tomkova M, Fernandez-Rozadilla C, Sahnane N, et al. The polymorphic variant rs1800734 influences methylation acquisition and allele-specific TFAP4 binding in the MLH1 promoter leading to differential mRNA expression. Sci Rep. 2019;9:13463.
Article PubMed PubMed Central Google Scholar
Weisenberger DJ, Siegmund KD, Campan M, Young J, Long TI, Faasse MA, et al. CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Nat Genet. 2006;38:787–93.
Miyakura Y, Tahara M, Lefor AT, Yasuda Y, Sugano K. Haplotype defined by the MLH1-93G/A polymorphism is associated with MLH1 promoter hypermethylation in sporadic colorectal cancers. BMC Res Notes. 2014;7:835.
Article PubMed PubMed Central Google Scholar
Mrkonjic M, Roslin NM, Greenwood CM, Raptis S, Pollett A, Laird PW, et al. Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer. PLoS ONE. 2010;5:1–10.
Chen H, Taylor NP, Sotamaa KM, Mutch DG, Powell MA, Schmidt AP, et al. Evidence for heritable predisposition to epigenetic silencing of MLH1. Int J Cancer. 2007;120:1684–8.
Beiner ME, Rosen B, Fyles A, Harley I, Pal T, Siminovitch K, et al. Endometrial cancer risk is associated with variants of the mismatch repair genes MLH1 and MSH2. Cancer Epidemiol Biomarkers Prev. 2006;15:1636–40.
Hitchins MP, Lin VA, Buckle A, Cheong K, Halani N, Ku S, et al. Epigenetic inactivation of a cluster of genes flanking MLH1 in microsatellite-unstable colorectal cancer. Cancer Res. 2007;67:9107–16.
Zheng GXY, Lau BT, Schnall-Levin M, Jarosz M, Bell JM, Hindson CM, et al. Haplotyping germline and cancer genomes with high-throughput linked-read sequencing. Nat Biotechnol. 2016;34:303–11.
Article PubMed PubMed Central Google Scholar
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al. The sequence alignment/map format and SAMtools. Bioinformatics. 2009;25:2078–9.
Article PubMed PubMed Central Google Scholar
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The genome analysis toolkit: a mapreduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297–303.
Article PubMed PubMed Central Google Scholar
Kim S, Scheffler K, Halpern AL, Bekritsky MA, Noh E, Källberg M, et al. Strelka2: fast and accurate calling of germline and somatic variants. Nat Methods. 2018;15:591–4.
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