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Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.
Walker R, Joo JE, Mahmood K, Clendenning M, Como J, Preston SG, Joseland S, Pope BJ, Medeiros ABD, Murillo BV, Pachter N, Sweet K, Spigelman AD, Groves A, Gleeson M, Bernatowicz K, Poplawski N, Andrews L, Healey E, Gallinger S, Grant RC, Win AK, Hopper JL, Jenkins MA, Torrezan GT, Rosty C, Macrae FA, Winship IM, Buchanan DD, Georgeson P. Walker R, et al. Among authors: hopper jl. medRxiv [Preprint]. 2024 Aug 9:2024.08.08.24311713. doi: 10.1101/2024.08.08.24311713. medRxiv. 2024. PMID: 39148833 Free PMC article. Preprint.
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: hopper jl. 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.
Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study.
Buchanan DD, Sweet K, Drini M, Jenkins MA, Win AK, Gattas M, Walsh MD, Clendenning M, McKeone D, Walters R, Roberts A, Young A, Hampel H, Hopper JL, Goldblatt J, George J, Suthers GK, Phillips K, Young GP, Chow E, Parry S, Woodall S, Tucker K, Muir A, Field M, Greening S, Gallinger S, Green J, Woods MO, Spaetgens R, de la Chapelle A, Macrae F, Walker NI, Jass JR, Young JP. Buchanan DD, et al. Among authors: hopper jl. Int J Colorectal Dis. 2010 Jun;25(6):703-12. doi: 10.1007/s00384-010-0907-8. Epub 2010 Mar 6. Int J Colorectal Dis. 2010. PMID: 20213458 Free PMC article.
Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinics.
Buchanan DD, Sweet K, Drini M, Jenkins MA, Win AK, English DR, Walsh MD, Clendenning M, McKeone DM, Walters RJ, Roberts A, Pearson SA, Pavluk E, Hopper JL, Gattas MR, Goldblatt J, George J, Suthers GK, Phillips KD, Woodall S, Arnold J, Tucker K, Muir A, Field M, Greening S, Gallinger S, Perrier R, Baron JA, Potter JD, Haile R, Frankel W, de la Chapelle A, Macrae F, Rosty C, Walker NI, Parry S, Young JP. Buchanan DD, et al. Among authors: hopper jl. PLoS One. 2010 Jul 16;5(7):e11636. doi: 10.1371/journal.pone.0011636. PLoS One. 2010. PMID: 20661287 Free PMC article.
Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer.
Win AK, Cleary SP, Dowty JG, Baron JA, Young JP, Buchanan DD, Southey MC, Burnett T, Parfrey PS, Green RC, Le Marchand L, Newcomb PA, Haile RW, Lindor NM, Hopper JL, Gallinger S, Jenkins MA. Win AK, et al. Among authors: hopper jl. Int J Cancer. 2011 Nov 1;129(9):2256-62. doi: 10.1002/ijc.25870. Epub 2011 Apr 8. Int J Cancer. 2011. PMID: 21171015 Free PMC article.
Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery.
Parry S, Win AK, Parry B, Macrae FA, Gurrin LC, Church JM, Baron JA, Giles GG, Leggett BA, Winship I, Lipton L, Young GP, Young JP, Lodge CJ, Southey MC, Newcomb PA, Le Marchand L, Haile RW, Lindor NM, Gallinger S, Hopper JL, Jenkins MA. Parry S, et al. Among authors: hopper jl. Gut. 2011 Jul;60(7):950-7. doi: 10.1136/gut.2010.228056. Epub 2010 Dec 30. Gut. 2011. PMID: 21193451 Free PMC article.
Mutation deep within an intron of MSH2 causes Lynch syndrome.
Clendenning M, Buchanan DD, Walsh MD, Nagler B, Rosty C, Thompson B, Spurdle AB, Hopper JL, Jenkins MA, Young JP. Clendenning M, et al. Among authors: hopper jl. Fam Cancer. 2011 Jun;10(2):297-301. doi: 10.1007/s10689-011-9427-0. Fam Cancer. 2011. PMID: 21360204 Free PMC article.
1,220 results