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Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C, West HD, Chew E, Galavotti S, Flensburg C, Grolleman JE, Jansen EAM, Curley H, Chegwidden L, Arbe-Barnes EH, Lander N, Truscott R, Pagan J, Bajel A, Sherwood K, Martin L, Thomas H, Georgiou D, Fostira F, Goldberg Y, Adams DJ, van der Biezen SAM, Christie M, Clendenning M, Thomas LE, Deltas C, Dimovski AJ, Dymerska D, Lubinski J, Mahmood K, van der Post RS, Sanders M, Weitz J, Taylor JC, Turnbull C, Vreede L, van Wezel T, Whalley C, Arnedo-Pac C, Caravagna G, Cross W, Chubb D, Frangou A, Gruber AJ, Kinnersley B, Noyvert B, Church D, Graham T, Houlston R, Lopez-Bigas N, Sottoriva A, Wedge D; Genomics England Research Consortium; CORGI Consortium; WGS500 Consortium; Jenkins MA, Kuiper RP, Roberts AW, Cheadle JP, Ligtenberg MJL, Hoogerbrugge N, Koelzer VH, Rivas AD, Winship IM, Ponte CR, Buchanan DD, Power DG, Green A, Tomlinson IPM, Sampson JR, Majewski IJ, de Voer RM. Palles C, et al. Among authors: west hd. Am J Hum Genet. 2022 May 5;109(5):953-960. doi: 10.1016/j.ajhg.2022.03.018. Epub 2022 Apr 22. Am J Hum Genet. 2022. PMID: 35460607 Free PMC article.
Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.
Dunlop MG, Dobbins SE, Farrington SM, Jones AM, Palles C, Whiffin N, Tenesa A, Spain S, Broderick P, Ooi LY, Domingo E, Smillie C, Henrion M, Frampton M, Martin L, Grimes G, Gorman M, Semple C, Ma YP, Barclay E, Prendergast J, Cazier JB, Olver B, Penegar S, Lubbe S, Chander I, Carvajal-Carmona LG, Ballereau S, Lloyd A, Vijayakrishnan J, Zgaga L, Rudan I, Theodoratou E; Colorectal Tumour Gene Identification (CORGI) Consortium; Starr JM, Deary I, Kirac I, Kovacević D, Aaltonen LA, Renkonen-Sinisalo L, Mecklin JP, Matsuda K, Nakamura Y, Okada Y, Gallinger S, Duggan DJ, Conti D, Newcomb P, Hopper J, Jenkins MA, Schumacher F, Casey G, Easton D, Shah M, Pharoah P, Lindblom A, Liu T; Swedish Low-Risk Colorectal Cancer Study Group; Smith CG, West H, Cheadle JP; COIN Collaborative Group; Midgley R, Kerr DJ, Campbell H, Tomlinson IP, Houlston RS. Dunlop MG, et al. Nat Genet. 2012 May 27;44(7):770-6. doi: 10.1038/ng.2293. Nat Genet. 2012. PMID: 22634755 Free PMC article.
Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis.
Smith CG, West H, Harris R, Idziaszczyk S, Maughan TS, Kaplan R, Richman S, Quirke P, Seymour M, Moskvina V, Steinke V, Propping P, Hes FJ, Wijnen J, Cheadle JP. Smith CG, et al. J Natl Cancer Inst. 2013 Aug 21;105(16):1249-53. doi: 10.1093/jnci/djt183. Epub 2013 Jul 12. J Natl Cancer Inst. 2013. PMID: 23852950
Response.
Smith CG, West H, Harris R, Idziaszczyk S, Maughan TS, Kaplan R, Richman S, Quirke P, Seymour M, Moskvina V, Steinke V, Propping P, Hes FJ, Wijnen J, Cheadle JP. Smith CG, et al. J Natl Cancer Inst. 2014 Apr 26;106(5):dju087. doi: 10.1093/jnci/dju087. J Natl Cancer Inst. 2014. PMID: 24771876 No abstract available.
Analyses of 7,635 Patients with Colorectal Cancer Using Independent Training and Validation Cohorts Show That rs9929218 in CDH1 Is a Prognostic Marker of Survival.
Smith CG, Fisher D, Harris R, Maughan TS, Phipps AI, Richman S, Seymour M, Tomlinson I, Rosmarin D, Kerr D, Chan AT, Peters U, Newcomb PA, Idziaszczyk S, West H, Meade A, Kaplan R, Cheadle JP. Smith CG, et al. Clin Cancer Res. 2015 Aug 1;21(15):3453-61. doi: 10.1158/1078-0432.CCR-14-3136. Epub 2015 Apr 14. Clin Cancer Res. 2015. PMID: 25873087 Free PMC article.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium; Tischkowitz MD, Maher ER. Whitworth J, et al. Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14. Am J Hum Genet. 2018. PMID: 29909963 Free PMC article.
Genome-wide association studies of toxicity to oxaliplatin and fluoropyrimidine chemotherapy with or without cetuximab in 1800 patients with advanced colorectal cancer.
Watts K, Wills C, Madi A, Palles C, Maughan TS, Kaplan R, Al-Tassan NA, Kerr R, Kerr D, Gray V, West H, Houlston RS, Escott-Price V, Cheadle JP. Watts K, et al. Int J Cancer. 2021 Nov 1;149(9):1713-1722. doi: 10.1002/ijc.33739. Epub 2021 Jul 31. Int J Cancer. 2021. PMID: 34270794 Free article.
A genome-wide search for determinants of survival in 1926 patients with advanced colorectal cancer with follow-up in over 22,000 patients.
Wills C, He Y, Summers MG, Lin Y, Phipps AI, Watts K, Law PJ, Al-Tassan NA, Maughan TS, Kaplan R, Houlston RS, Peters U, Newcomb PA, Chan AT, Buchanan DD, Gallinger S, Marchand LL, Pai RK, Shi Q, Alberts SR, Gray V, West HD, Escott-Price V, Dunlop MG, Cheadle JP. Wills C, et al. Among authors: west hd. Eur J Cancer. 2021 Dec;159:247-258. doi: 10.1016/j.ejca.2021.09.047. Epub 2021 Nov 15. Eur J Cancer. 2021. PMID: 34794066 Free PMC article.
40 results