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Page 1
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.
Sahasrabudhe R, Lott P, Bohorquez M, Toal T, Estrada AP, Suarez JJ, Brea-Fernández A, Cameselle-Teijeiro J, Pinto C, Ramos I, Mantilla A, Prieto R, Corvalan A, Norero E, Alvarez C, Tapia T, Carvallo P, Gonzalez LM, Cock-Rada A, Solano A, Neffa F, Della Valle A, Yau C, Soares G, Borowsky A, Hu N, He LJ, Han XY; Latin American Gastric Cancer Genetics Collaborative Group; Taylor PR, Goldstein AM, Torres J, Echeverry M, Ruiz-Ponte C, Teixeira MR, Carvajal-Carmona LG. Sahasrabudhe R, et al. Gastroenterology. 2017 Apr;152(5):983-986.e6. doi: 10.1053/j.gastro.2016.12.010. Epub 2016 Dec 23. Gastroenterology. 2017. PMID: 28024868 Free PMC article.
COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer.
Tomlinson IP, Dunlop M, Campbell H, Zanke B, Gallinger S, Hudson T, Koessler T, Pharoah PD, Niittymäki I, Tuupanen S, Aaltonen LA, Hemminki K, Lindblom A, Försti A, Sieber O, Lipton L, van Wezel T, Morreau H, Wijnen JT, Devilee P, Matsuda K, Nakamura Y, Castellví-Bel S, Ruiz-Ponte C, Castells A, Carracedo A, Ho JW, Sham P, Hofstra RM, Vodicka P, Brenner H, Hampe J, Schafmayer C, Tepel J, Schreiber S, Völzke H, Lerch MM, Schmidt CA, Buch S, Moreno V, Villanueva CM, Peterlongo P, Radice P, Echeverry MM, Velez A, Carvajal-Carmona L, Scott R, Penegar S, Broderick P, Tenesa A, Houlston RS. Tomlinson IP, et al. Br J Cancer. 2010 Jan 19;102(2):447-54. doi: 10.1038/sj.bjc.6605338. Epub 2009 Nov 17. Br J Cancer. 2010. PMID: 19920828 Free PMC article.
Much of the genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas.
Carvajal-Carmona LG, Zauber AG, Jones AM, Howarth K, Wang J, Cheng T; APC Trial Collaborators; APPROVe Trial Collaborators; CORGI Study Collaborators; Colon Cancer Family Registry Collaborators; CGEMS Collaborators; Riddell R, Lanas A, Morton D, Bertagnolli MM, Tomlinson I. Carvajal-Carmona LG, et al. Gastroenterology. 2013 Jan;144(1):53-5. doi: 10.1053/j.gastro.2012.09.016. Epub 2012 Sep 19. Gastroenterology. 2013. PMID: 22999960 Free PMC article.
BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations.
Fernandez-Rozadilla C, Palles C, Carvajal-Carmona L, Peterlongo P, Nici C, Veneroni S, Pinheiro M, Teixeira MR, Moreno V, Lamas MJ, Baiget M, Lopez-Fernandez LA, Gonzalez D, Brea-Fernandez A, Clofent J, Bujanda L, Bessa X, Andreu M, Xicola R, Llor X, Jover R; EPICOLON Consortium; Castells A, Castellvi-Bel S, Carracedo A, Tomlinson I, Ruiz-Ponte C. Fernandez-Rozadilla C, et al. Carcinogenesis. 2013 Feb;34(2):314-8. doi: 10.1093/carcin/bgs357. Epub 2012 Nov 16. Carcinogenesis. 2013. PMID: 23161572
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S; CORGI Consortium; WGS500 Consortium; Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I. Palles C, et al. Nat Genet. 2013 Feb;45(2):136-44. doi: 10.1038/ng.2503. Epub 2012 Dec 23. Nat Genet. 2013. PMID: 23263490 Free PMC article.
A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12.
Fernandez-Rozadilla C, Cazier JB, Tomlinson IP, Carvajal-Carmona LG, Palles C, Lamas MJ, Baiget M, López-Fernández LA, Brea-Fernández A, Abulí A, Bujanda L, Clofent J, Gonzalez D, Xicola R, Andreu M, Bessa X, Jover R, Llor X; EPICOLON Consortium; Moreno V, Castells A, Carracedo Á, Castellvi-Bel S, Ruiz-Ponte C. Fernandez-Rozadilla C, et al. BMC Genomics. 2013 Jan 26;14:55. doi: 10.1186/1471-2164-14-55. BMC Genomics. 2013. PMID: 23350875 Free PMC article.
Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25.
Fejerman L, Ahmadiyeh N, Hu D, Huntsman S, Beckman KB, Caswell JL, Tsung K, John EM, Torres-Mejia G, Carvajal-Carmona L, Echeverry MM, Tuazon AM, Ramirez C; COLUMBUS Consortium; Gignoux CR, Eng C, Gonzalez-Burchard E, Henderson B, Le Marchand L, Kooperberg C, Hou L, Agalliu I, Kraft P, Lindström S, Perez-Stable EJ, Haiman CA, Ziv E. Fejerman L, et al. Nat Commun. 2014 Oct 20;5:5260. doi: 10.1038/ncomms6260. Nat Commun. 2014. PMID: 25327703 Free PMC article.
The HABP2 G534E variant is an unlikely cause of familial non-medullary thyroid cancer.
Sahasrabudhe R, Stultz J, Williamson J, Lott P, Estrada A, Bohorquez M, Palles C, Polanco-Echeverry G, Jaeger E, Martin L, Magdalena Echeverry M, Tomlinson I, Carvajal-Carmona LG; TCUKIN. Sahasrabudhe R, et al. J Clin Endocrinol Metab. 2016 Mar 1;10(3):1098-1103. doi: 10.1210/jc.2015-3928. Epub 2015 Dec 21. J Clin Endocrinol Metab. 2016. PMID: 26691890 Free PMC article.
103 results