Defective Base Excision Repair Associated with NTHL1
Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP. Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype. Cancer Cell. 2019 Feb 11;35(2):256–266.e5. doi: 10.1016/j.ccell.2018.12.011. PMID: 30753826.; Limpose KL, Trego KS, Li Z, Leung SW, Sarker AH, Shah JA, Ramalingam SS, Werner EM, Dynan WS, Cooper PK, Corbett AH, Doetsch PW. Overexpression of the base excision repair NTHL1 glycosylase causes genomic instability and early cellular hallmarks of cancer. Nucleic Acids Res. 2018 May 18;46(9):4515–32. PMID: 29522130; PMCID: PMC5961185.; Weren RD, Ligtenberg MJ, Geurts van Kessel A, De Voer RM, Hoogerbrugge N, Kuiper RP. NTHL1 and MUTYH polyposis syndromes: two sides of the same coin? The Journal of Pathology. 2017 Dec 14;244(2):135–42. doi: 10.1002/path.5002.; Broderick P, Dobbins SE, Chubb D, Kinnersley B, Dunlop MG, Tomlinson I, Houlston RS. Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients—a Systematic Review. Gastroenterology. 2017 Jan;152(1):75–77.e4. doi: 10.1053/j.gastro.2016.09.041.; Rivera B, Castellsagué E, Bah I, van Kempen LC, Foulkes WD. Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors. N Engl J Med. 2015 Nov 12;373(20):1985–6. doi: 10.1056/nejmc1506878. PMID: 26559593.; Weren RDA, Ligtenberg MJL, Kets CM, de Voer RM, Verwiel ETP, Spruijt L, van Zelst-Stams WAG, Jongmans MC, Gilissen C, Hehir-Kwa JY, Hoischen A, Shendure J, Boyle EA, Kamping EJ, Nagtegaal ID, Tops BBJ, Nagengast FM, Geurts van Kessel A, van Krieken JHJM, Kuiper RP, Hoogerbrugge N. A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nature Genetics. 2015 May 04;47(6):668–71. doi: 10.1038/ng.3287.; Galick HA, Kathe S, Liu M, Robey-Bond S, Kidane D, Wallace SS, Sweasy JB. Germ-line variant of human NTH1 DNA glycosylase induces genomic instability and cellular transformation. Proc Natl Acad Sci U S A. 2013 Aug 27;110(35):14314–9. PMID: 23940330; PMCID: PMC3761600.; Chan MK, Ocampo-Hafalla MT, Vartanian V, Jaruga P, Kirkali G, Koenig KL, Brown S, Lloyd RS, Dizdaroglu M, Teebor GW. Targeted deletion of the genes encoding NTH1 and NEIL1 DNA N-glycosylases reveals the existence of novel carcinogenic oxidative damage to DNA. DNA Repair (Amst). 2009 Jul 04;8(7):786–94. PMID: 19346169; PMCID: PMC4894318.