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Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.
Nakagawa H, Lockman JC, Frankel WL, Hampel H, Steenblock K, Burgart LJ, Thibodeau SN, de la Chapelle A. Nakagawa H, et al. Among authors: thibodeau sn. Cancer Res. 2004 Jul 15;64(14):4721-7. doi: 10.1158/0008-5472.CAN-03-2879. Cancer Res. 2004. PMID: 15256438
Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome.
Raskin L, Schwenter F, Freytsis M, Tischkowitz M, Wong N, Chong G, Narod SA, Levine DA, Bogomolniy F, Aronson M, Thibodeau SN, Hunt KS, Rennert G, Gallinger S, Gruber SB, Foulkes WD. Raskin L, et al. Among authors: thibodeau sn. Clin Genet. 2011 Jun;79(6):512-22. doi: 10.1111/j.1399-0004.2010.01594.x. Epub 2010 Dec 14. Clin Genet. 2011. PMID: 21155762 Free PMC article.
Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes.
Win AK, Dowty JG, English DR, Campbell PT, Young JP, Winship I, Macrae FA, Lipton L, Parry S, Young GP, Buchanan DD, Martínez ME, Jacobs ET, Ahnen DJ, Haile RW, Casey G, Baron JA, Lindor NM, Thibodeau SN, Newcomb PA, Potter JD, Le Marchand L, Gallinger S, Hopper JL, Jenkins MA. Win AK, et al. Among authors: thibodeau sn. Br J Cancer. 2011 Jun 28;105(1):162-9. doi: 10.1038/bjc.2011.172. Epub 2011 May 10. Br J Cancer. 2011. PMID: 21559014 Free PMC article.
DNA mismatch repair status and colon cancer recurrence and survival in clinical trials of 5-fluorouracil-based adjuvant therapy.
Sinicrope FA, Foster NR, Thibodeau SN, Marsoni S, Monges G, Labianca R, Kim GP, Yothers G, Allegra C, Moore MJ, Gallinger S, Sargent DJ. Sinicrope FA, et al. Among authors: thibodeau sn. J Natl Cancer Inst. 2011 Jun 8;103(11):863-75. doi: 10.1093/jnci/djr153. Epub 2011 May 19. J Natl Cancer Inst. 2011. PMID: 21597022 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: thibodeau sn. 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.
534 results