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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: markowitz a. 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.
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: markowitz a. Nat Genet. 1997 Sep;17(1):79-83. doi: 10.1038/ng0997-79. Nat Genet. 1997. PMID: 9288102
A636P is associated with early-onset colon cancer in Ashkenazi Jews.
Guillem JG, Rapaport BS, Kirchhoff T, Kolachana P, Nafa K, Glogowski E, Finch R, Huang H, Foulkes WD, Markowitz A, Ellis NA, Offit K. Guillem JG, et al. Among authors: markowitz a. J Am Coll Surg. 2003 Feb;196(2):222-5. doi: 10.1016/S1072-7515(02)01808-2. J Am Coll Surg. 2003. PMID: 12595050
MSH6 germline mutations are rare in colorectal cancer families.
Peterlongo P, Nafa K, Lerman GS, Glogowski E, Shia J, Ye TZ, Markowitz AJ, Guillem JG, Kolachana P, Boyd JA, Offit K, Ellis NA. Peterlongo P, et al. Among authors: markowitz aj. Int J Cancer. 2003 Nov 20;107(4):571-9. doi: 10.1002/ijc.11415. Int J Cancer. 2003. PMID: 14520694 Free article.
A636P testing in Ashkenazi Jews.
Guillem JG, Moore HG, Palmer C, Glogowski E, Finch R, Nafa K, Markowitz AJ, Offit K, Ellis NA. Guillem JG, et al. Among authors: markowitz aj. Fam Cancer. 2004;3(3-4):223-7. doi: 10.1007/s10689-004-0899-z. Fam Cancer. 2004. PMID: 15516845 Review.
Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome.
Liu YL, Cadoo KA, Maio A, Patel Z, Kemel Y, Salo-Mullen E, Catchings A, Ranganathan M, Kane S, Soslow R, Ceyhan-Birsoy O, Mandelker D, Carlo MI, Walsh MF, Shia J, Markowitz AJ, Offit K, Stadler ZK, Latham A. Liu YL, et al. Among authors: markowitz aj. Genet Med. 2022 Jun;24(6):1187-1195. doi: 10.1016/j.gim.2022.02.016. Epub 2022 Mar 26. Genet Med. 2022. PMID: 35346574 Free PMC article.
448 results