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Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.
Laken SJ, Petersen GM, Gruber SB, Oddoux C, Ostrer H, Giardiello FM, Hamilton SR, Hampel H, Markowitz A, Klimstra D, Jhanwar S, Winawer S, Offit K, Luce MC, Kinzler KW, Vogelstein B. Laken SJ, et al. Among authors: hampel h. Nat Genet. 1997 Sep;17(1):79-83. doi: 10.1038/ng0997-79. Nat Genet. 1997. PMID: 9288102
Genetic testing for cancer predisposition.
Eng C, Hampel H, de la Chapelle A. Eng C, et al. Among authors: hampel h. Annu Rev Med. 2001;52:371-400. doi: 10.1146/annurev.med.52.1.371. Annu Rev Med. 2001. PMID: 11160785 Review.
The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.
Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, Shia J, Markowitz A, Figer A, Friedman E, Farber D, Greenwood CM, Bonner JD, Nafa K, Walsh T, Marcus V, Tomsho L, Gebert J, Macrae FA, Gaff CL, Paillerets BB, Gregersen PK, Weitzel JN, Gordon PH, MacNamara E, King MC, Hampel H, De La Chapelle A, Boyd J, Offit K, Rennert G, Chong G, Ellis NA. Foulkes WD, et al. Among authors: hampel h. Am J Hum Genet. 2002 Dec;71(6):1395-412. doi: 10.1086/345075. Epub 2002 Nov 26. Am J Hum Genet. 2002. PMID: 12454801 Free PMC article.
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Nakagawa H, Sotamaa K, Prior TW, Westman J, Panescu J, Fix D, Lockman J, Comeras I, de la Chapelle A. Hampel H, et al. N Engl J Med. 2005 May 5;352(18):1851-60. doi: 10.1056/NEJMoa043146. N Engl J Med. 2005. PMID: 15872200
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