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Page 1
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.
Georgeson P, Harrison TA, Pope BJ, Zaidi SH, Qu C, Steinfelder RS, Lin Y, Joo JE, Mahmood K, Clendenning M, Walker R, Amitay EL, Berndt SI, Brenner H, Campbell PT, Cao Y, Chan AT, Chang-Claude J, Doheny KF, Drew DA, Figueiredo JC, French AJ, Gallinger S, Giannakis M, Giles GG, Gsur A, Gunter MJ, Hoffmeister M, Hsu L, Huang WY, Limburg P, Manson JE, Moreno V, Nassir R, Nowak JA, Obón-Santacana M, Ogino S, Phipps AI, Potter JD, Schoen RE, Sun W, Toland AE, Trinh QM, Ugai T, Macrae FA, Rosty C, Hudson TJ, Jenkins MA, Thibodeau SN, Winship IM, Peters U, Buchanan DD. Georgeson P, et al. Among authors: buchanan dd. Nat Commun. 2022 Jun 6;13(1):3254. doi: 10.1038/s41467-022-30916-1. Nat Commun. 2022. PMID: 35668106 Free PMC article.
Evidence for BRAF mutation and variable levels of microsatellite instability in a syndrome of familial colorectal cancer.
Young J, Barker MA, Simms LA, Walsh MD, Biden KG, Buchanan D, Buttenshaw R, Whitehall VL, Arnold S, Jackson L, Kambara T, Spring KJ, Jenkins MA, Walker GJ, Hopper JL, Leggett BA, Jass JR. Young J, et al. Clin Gastroenterol Hepatol. 2005 Mar;3(3):254-63. doi: 10.1016/s1542-3565(04)00673-1. Clin Gastroenterol Hepatol. 2005. PMID: 15765445
CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer.
Weisenberger DJ, Siegmund KD, Campan M, Young J, Long TI, Faasse MA, Kang GH, Widschwendter M, Weener D, Buchanan D, Koh H, Simms L, Barker M, Leggett B, Levine J, Kim M, French AJ, Thibodeau SN, Jass J, Haile R, Laird PW. Weisenberger DJ, et al. Nat Genet. 2006 Jul;38(7):787-93. doi: 10.1038/ng1834. Epub 2006 Jun 25. Nat Genet. 2006. PMID: 16804544
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
Clendenning M, Senter L, Hampel H, Robinson KL, Sun S, Buchanan D, Walsh MD, Nilbert M, Green J, Potter J, Lindblom A, de la Chapelle A. Clendenning M, et al. J Med Genet. 2008 Jun;45(6):340-5. doi: 10.1136/jmg.2007.056150. Epub 2008 Jan 4. J Med Genet. 2008. PMID: 18178629 Free PMC article.
Ethnicity and risk for colorectal cancers showing somatic BRAF V600E mutation or CpG island methylator phenotype.
English DR, Young JP, Simpson JA, Jenkins MA, Southey MC, Walsh MD, Buchanan DD, Barker MA, Haydon AM, Royce SG, Roberts A, Parry S, Hopper JL, Jass JJ, Giles GG. English DR, et al. Among authors: buchanan dd. Cancer Epidemiol Biomarkers Prev. 2008 Jul;17(7):1774-80. doi: 10.1158/1055-9965.EPI-08-0091. Cancer Epidemiol Biomarkers Prev. 2008. PMID: 18628431
Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening.
Poynter JN, Siegmund KD, Weisenberger DJ, Long TI, Thibodeau SN, Lindor N, Young J, Jenkins MA, Hopper JL, Baron JA, Buchanan D, Casey G, Levine AJ, Le Marchand L, Gallinger S, Bapat B, Potter JD, Newcomb PA, Haile RW, Laird PW; Colon Cancer Family Registry Investigators. Poynter JN, et al. Cancer Epidemiol Biomarkers Prev. 2008 Nov;17(11):3208-15. doi: 10.1158/1055-9965.EPI-08-0512. Cancer Epidemiol Biomarkers Prev. 2008. PMID: 18990764 Free PMC article.
Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis.
Walsh MD, Buchanan DD, Walters R, Roberts A, Arnold S, McKeone D, Clendenning M, Ruszkiewicz AR, Jenkins MA, Hopper JL, Goldblatt J, George J, Suthers GK, Phillips K, Young GP, Macrae F, Drini M, Woods MO, Parry S, Jass JR, Young JP. Walsh MD, et al. Among authors: buchanan dd. Fam Cancer. 2009;8(4):313-23. doi: 10.1007/s10689-009-9238-8. Epub 2009 Feb 25. Fam Cancer. 2009. PMID: 19241144 Free PMC article.
Risks of Lynch syndrome cancers for MSH6 mutation carriers.
Baglietto L, Lindor NM, Dowty JG, White DM, Wagner A, Gomez Garcia EB, Vriends AH; Dutch Lynch Syndrome Study Group; Cartwright NR, Barnetson RA, Farrington SM, Tenesa A, Hampel H, Buchanan D, Arnold S, Young J, Walsh MD, Jass J, Macrae F, Antill Y, Winship IM, Giles GG, Goldblatt J, Parry S, Suthers G, Leggett B, Butz M, Aronson M, Poynter JN, Baron JA, Le Marchand L, Haile R, Gallinger S, Hopper JL, Potter J, de la Chapelle A, Vasen HF, Dunlop MG, Thibodeau SN, Jenkins MA. Baglietto L, et al. J Natl Cancer Inst. 2010 Feb 3;102(3):193-201. doi: 10.1093/jnci/djp473. Epub 2009 Dec 22. J Natl Cancer Inst. 2010. PMID: 20028993 Free PMC article.
325 results