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Page 1
Validation of a Genetic-Enhanced Risk Prediction Model for Colorectal Cancer in a Large Community-Based Cohort.
Su YR, Sakoda LC, Jeon J, Thomas M, Lin Y, Schneider JL, Udaltsova N, Lee JK, Lansdorp-Vogelaar I, Peterse EFP, Zauber AG, Zheng J, Zheng Y, Hauser E, Baron JA, Barry EL, Bishop DT, Brenner H, Buchanan DD, Burnett-Hartman A, Campbell PT, Casey G, Castellví-Bel S, Chan AT, Chang-Claude J, Figueiredo JC, Gallinger SJ, Giles GG, Gruber SB, Gsur A, Gunter MJ, Hampe J, Hampel H, Harrison TA, Hoffmeister M, Hua X, Huyghe JR, Jenkins MA, Keku TO, Marchand LL, Li L, Lindblom A, Moreno V, Newcomb PA, Pharoah PDP, Platz EA, Potter JD, Qu C, Rennert G, Schoen RE, Slattery ML, Song M, van Duijnhoven FJB, Van Guelpen B, Vodicka P, Wolk A, Woods MO, Wu AH, Hayes RB, Peters U, Corley DA, Hsu L. Su YR, et al. Among authors: hampel h. Cancer Epidemiol Biomarkers Prev. 2023 Mar 6;32(3):353-362. doi: 10.1158/1055-9965.EPI-22-0817. Cancer Epidemiol Biomarkers Prev. 2023. PMID: 36622766 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. Among authors: hampel h. 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.
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, Young J, Winship I, Dowty JG, White DM, Hopper JL, Baglietto L, Jenkins MA, de la Chapelle A. Senter L, et al. Among authors: hampel h. Gastroenterology. 2008 Aug;135(2):419-28. doi: 10.1053/j.gastro.2008.04.026. Epub 2008 May 2. Gastroenterology. 2008. PMID: 18602922 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. Among authors: hampel h. 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.
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: hampel h. 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.
An American founder mutation in MLH1.
Tomsic J, Liyanarachchi S, Hampel H, Morak M, Thomas BC, Raymond VM, Chittenden A, Schackert HK, Gruber SB, Syngal S, Viel A, Holinski-Feder E, Thibodeau SN, de la Chapelle A. Tomsic J, et al. Among authors: hampel h. Int J Cancer. 2012 May 1;130(9):2088-95. doi: 10.1002/ijc.26233. Epub 2011 Aug 30. Int J Cancer. 2012. PMID: 21671475 Free PMC article.
Performance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases.
Mercado RC, Hampel H, Kastrinos F, Steyerberg E, Balmana J, Stoffel E, Cohn DE, Backes FJ, Hopper JL, Jenkins MA, Lindor NM, Casey G, Haile R, Madhavan S, de la Chapelle A, Syngal S; Colon Cancer Family Registry. Mercado RC, et al. Among authors: hampel h. Genet Med. 2012 Jul;14(7):670-80. doi: 10.1038/gim.2012.18. Epub 2012 Mar 8. Genet Med. 2012. PMID: 22402756 Free PMC article.
Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583.
Tuupanen S, Yan J, Turunen M, Gylfe AE, Kaasinen E, Li L, Eng C, Culver DA, Kalady MF, Pennison MJ, Pasche B, Manne U, de la Chapelle A, Hampel H, Henderson BE, Marchand LL, Hautaniemi S, Askhtorab H, Smoot D, Sandler RS, Keku T, Kupfer SS, Ellis NA, Haiman CA, Taipale J, Aaltonen LA. Tuupanen S, et al. Among authors: hampel h. Cancer Genet. 2012 Jan-Feb;205(1-2):25-33. doi: 10.1016/j.cancergen.2012.01.005. Cancer Genet. 2012. PMID: 22429595 Free PMC article.
Identification of Lynch syndrome among patients with colorectal cancer.
Moreira L, Balaguer F, Lindor N, de la Chapelle A, Hampel H, Aaltonen LA, Hopper JL, Le Marchand L, Gallinger S, Newcomb PA, Haile R, Thibodeau SN, Gunawardena S, Jenkins MA, Buchanan DD, Potter JD, Baron JA, Ahnen DJ, Moreno V, Andreu M, Ponz de Leon M, Rustgi AK, Castells A; EPICOLON Consortium. Moreira L, et al. Among authors: hampel h. JAMA. 2012 Oct 17;308(15):1555-65. doi: 10.1001/jama.2012.13088. JAMA. 2012. PMID: 23073952 Free PMC article.
PMS2 monoallelic mutation carriers: the known unknown.
Goodenberger ML, Thomas BC, Riegert-Johnson D, Boland CR, Plon SE, Clendenning M, Win AK, Senter L, Lipkin SM, Stadler ZK, Macrae FA, Lynch HT, Weitzel JN, de la Chapelle A, Syngal S, Lynch P, Parry S, Jenkins MA, Gallinger S, Holter S, Aronson M, Newcomb PA, Burnett T, Le Marchand L, Pichurin P, Hampel H, Terdiman JP, Lu KH, Thibodeau S, Lindor NM. Goodenberger ML, et al. Among authors: hampel h. Genet Med. 2016 Jan;18(1):13-9. doi: 10.1038/gim.2015.27. Epub 2015 Apr 9. Genet Med. 2016. PMID: 25856668 Free PMC article. Review.
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