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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: shia j. 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.
BLM heterozygosity and the risk of colorectal cancer.
Gruber SB, Ellis NA, Scott KK, Almog R, Kolachana P, Bonner JD, Kirchhoff T, Tomsho LP, Nafa K, Pierce H, Low M, Satagopan J, Rennert H, Huang H, Greenson JK, Groden J, Rapaport B, Shia J, Johnson S, Gregersen PK, Harris CC, Boyd J, Rennert G, Offit K. Gruber SB, et al. Among authors: shia j. Science. 2002 Sep 20;297(5589):2013. doi: 10.1126/science.1074399. Science. 2002. PMID: 12242432 No abstract available.
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: shia j. Int J Cancer. 2003 Nov 20;107(4):571-9. doi: 10.1002/ijc.11415. Int J Cancer. 2003. PMID: 14520694 Free article.
Immunohistochemistry as first-line screening for detecting colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: a 2-antibody panel may be as predictive as a 4-antibody panel.
Shia J, Tang LH, Vakiani E, Guillem JG, Stadler ZK, Soslow RA, Katabi N, Weiser MR, Paty PB, Temple LK, Nash GM, Wong WD, Offit K, Klimstra DS. Shia J, et al. Am J Surg Pathol. 2009 Nov;33(11):1639-45. doi: 10.1097/PAS.0b013e3181b15aa2. Am J Surg Pathol. 2009. PMID: 19701074
367 results