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317 results

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Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals.
Lacaze P, Sebra R, Riaz M, Tiller J, Revote J, Phung J, Parker EJ, Orchard SG, Lockery JE, Wolfe R, Strahl M, Wang YC, Chen R, Sisco D, Arnold T, Thompson BA, Buchanan DD, Macrae FA, James PA, Abhayaratna WP, Lockett TJ, Gibbs P, Tonkin AM, Nelson MR, Reid CM, Woods RL, Murray AM, Winship I, McNeil JJ, Schadt E. Lacaze P, et al. Among authors: buchanan dd. Genet Med. 2020 Nov;22(11):1883-1886. doi: 10.1038/s41436-020-0881-7. Epub 2020 Jul 1. Genet Med. 2020. PMID: 32606442 Free PMC article.
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.
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.
Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry.
Walsh MD, Buchanan DD, Cummings MC, Pearson SA, Arnold ST, Clendenning M, Walters R, McKeone DM, Spurdle AB, Hopper JL, Jenkins MA, Phillips KD, Suthers GK, George J, Goldblatt J, Muir A, Tucker K, Pelzer E, Gattas MR, Woodall S, Parry S, Macrae FA, Haile RW, Baron JA, Potter JD, Le Marchand L, Bapat B, Thibodeau SN, Lindor NM, McGuckin MA, Young JP. Walsh MD, et al. Among authors: buchanan dd. Clin Cancer Res. 2010 Apr 1;16(7):2214-24. doi: 10.1158/1078-0432.CCR-09-3058. Epub 2010 Mar 9. Clin Cancer Res. 2010. PMID: 20215533 Free PMC article.
Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes.
Win AK, Dowty JG, English DR, Campbell PT, Young JP, Winship I, Macrae FA, Lipton L, Parry S, Young GP, Buchanan DD, Martínez ME, Jacobs ET, Ahnen DJ, Haile RW, Casey G, Baron JA, Lindor NM, Thibodeau SN, Newcomb PA, Potter JD, Le Marchand L, Gallinger S, Hopper JL, Jenkins MA. Win AK, et al. Among authors: buchanan dd. Br J Cancer. 2011 Jun 28;105(1):162-9. doi: 10.1038/bjc.2011.172. Epub 2011 May 10. Br J Cancer. 2011. PMID: 21559014 Free PMC article.
Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study.
Win AK, Young JP, Lindor NM, Tucker KM, Ahnen DJ, Young GP, Buchanan DD, Clendenning M, Giles GG, Winship I, Macrae FA, Goldblatt J, Southey MC, Arnold J, Thibodeau SN, Gunawardena SR, Bapat B, Baron JA, Casey G, Gallinger S, Le Marchand L, Newcomb PA, Haile RW, Hopper JL, Jenkins MA. Win AK, et al. Among authors: buchanan dd. J Clin Oncol. 2012 Mar 20;30(9):958-64. doi: 10.1200/JCO.2011.39.5590. Epub 2012 Feb 13. J Clin Oncol. 2012. PMID: 22331944 Free PMC article.
317 results