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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. 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.
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. 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.
Variants in the netrin-1 receptor UNC5C prevent apoptosis and increase risk of familial colorectal cancer.
Coissieux MM, Tomsic J, Castets M, Hampel H, Tuupanen S, Andrieu N, Comeras I, Drouet Y, Lasset C, Liyanarachchi S, Mazelin L, Puisieux A, Saurin JC, Scoazec JY, Wang Q, Aaltonen L, Tanner SM, de la Chapelle A, Bernet A, Mehlen P. Coissieux MM, et al. Gastroenterology. 2011 Dec;141(6):2039-46. doi: 10.1053/j.gastro.2011.08.041. Epub 2011 Sep 3. Gastroenterology. 2011. PMID: 21893118 Free PMC article.