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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Among authors: bapat b. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study.
Win AK, Young JP, Lindor NM, Tucker KM, Ahnen DJ, Young GP, Buchanan DD, Clendenning M, Giles GG, Winship I, Macrae FA, Goldblatt J, Southey MC, Arnold J, Thibodeau SN, Gunawardena SR, Bapat B, Baron JA, Casey G, Gallinger S, Le Marchand L, Newcomb PA, Haile RW, Hopper JL, Jenkins MA. Win AK, et al. Among authors: bapat b. J Clin Oncol. 2012 Mar 20;30(9):958-64. doi: 10.1200/JCO.2011.39.5590. Epub 2012 Feb 13. J Clin Oncol. 2012. PMID: 22331944 Free PMC article.
Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer: a study from the colon cancer family registry.
Lindor NM, Yang P, Evans I, Schowalter K, De Andrade M, Li J, Jeavons E, Peterson G, Gallinger S, Bapat B, Hopper J, Jass J, Jenkins M, Templeton A, Potter J, Newcomb PA, Lemarchand L, Grove J, Haile R, Baron J, Seminara D, Limburg P, Thibodeau SN. Lindor NM, et al. Among authors: bapat b. Mol Genet Metab. 2010 Feb;99(2):157-9. doi: 10.1016/j.ymgme.2009.09.010. Epub 2009 Sep 27. Mol Genet Metab. 2010. PMID: 19853488 Free PMC article.
Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry.
Walsh MD, Buchanan DD, Cummings MC, Pearson SA, Arnold ST, Clendenning M, Walters R, McKeone DM, Spurdle AB, Hopper JL, Jenkins MA, Phillips KD, Suthers GK, George J, Goldblatt J, Muir A, Tucker K, Pelzer E, Gattas MR, Woodall S, Parry S, Macrae FA, Haile RW, Baron JA, Potter JD, Le Marchand L, Bapat B, Thibodeau SN, Lindor NM, McGuckin MA, Young JP. Walsh MD, et al. Among authors: bapat b. Clin Cancer Res. 2010 Apr 1;16(7):2214-24. doi: 10.1158/1078-0432.CCR-09-3058. Epub 2010 Mar 9. Clin Cancer Res. 2010. PMID: 20215533 Free PMC article.
Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.
Kohonen-Corish MR, Macrae F, Genuardi M, Aretz S, Bapat B, Bernstein IT, Burn J, Cotton RG, den Dunnen JT, Frebourg T, Greenblatt MS, Hofstra R, Holinski-Feder E, Lappalainen I, Lindblom A, Maglott D, Møller P, Morreau H, Möslein G, Sijmons R, Spurdle AB, Tavtigian S, Tops CM, Weber TK, de Wind N, Woods MO; Contributors to the InSiGHT-HVP Workshop. Kohonen-Corish MR, et al. Among authors: bapat b. Hum Mutat. 2011 Apr;32(4):491-4. doi: 10.1002/humu.21450. Epub 2011 Mar 8. Hum Mutat. 2011. PMID: 21387463
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X.
Lindor NM, Rabe K, Petersen GM, Haile R, Casey G, Baron J, Gallinger S, Bapat B, Aronson M, Hopper J, Jass J, LeMarchand L, Grove J, Potter J, Newcomb P, Terdiman JP, Conrad P, Moslein G, Goldberg R, Ziogas A, Anton-Culver H, de Andrade M, Siegmund K, Thibodeau SN, Boardman LA, Seminara D. Lindor NM, et al. Among authors: bapat b. JAMA. 2005 Apr 27;293(16):1979-85. doi: 10.1001/jama.293.16.1979. JAMA. 2005. PMID: 15855431 Free PMC article.
Quality assessment and correlation of microsatellite instability and immunohistochemical markers among population- and clinic-based colorectal tumors results from the Colon Cancer Family Registry.
Cicek MS, Lindor NM, Gallinger S, Bapat B, Hopper JL, Jenkins MA, Young J, Buchanan D, Walsh MD, Le Marchand L, Burnett T, Newcomb PA, Grady WM, Haile RW, Casey G, Plummer SJ, Krumroy LA, Baron JA, Thibodeau SN. Cicek MS, et al. Among authors: bapat b. J Mol Diagn. 2011 May;13(3):271-81. doi: 10.1016/j.jmoldx.2010.12.004. J Mol Diagn. 2011. PMID: 21497289 Free PMC article.
Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening.
Poynter JN, Siegmund KD, Weisenberger DJ, Long TI, Thibodeau SN, Lindor N, Young J, Jenkins MA, Hopper JL, Baron JA, Buchanan D, Casey G, Levine AJ, Le Marchand L, Gallinger S, Bapat B, Potter JD, Newcomb PA, Haile RW, Laird PW; Colon Cancer Family Registry Investigators. Poynter JN, et al. Among authors: bapat b. Cancer Epidemiol Biomarkers Prev. 2008 Nov;17(11):3208-15. doi: 10.1158/1055-9965.EPI-08-0512. Cancer Epidemiol Biomarkers Prev. 2008. PMID: 18990764 Free PMC article.
The association of tumor microsatellite instability phenotype with family history of colorectal cancer.
Bapat B, Lindor NM, Baron J, Siegmund K, Li L, Zheng Y, Haile R, Gallinger S, Jass JR, Young JP, Cotterchio M, Jenkins M, Grove J, Casey G, Thibodeau SN, Bishop DT, Hopper JL, Ahnen D, Newcomb PA, Le Marchand L, Potter JD, Seminara D; Colon Cancer Family Registry. Bapat B, et al. Cancer Epidemiol Biomarkers Prev. 2009 Mar;18(3):967-75. doi: 10.1158/1055-9965.EPI-08-0878. Epub 2009 Mar 3. Cancer Epidemiol Biomarkers Prev. 2009. PMID: 19258475 Free PMC article.
202 results