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Page 1
Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia.
Tuazon AMA, Lott P, Bohórquez M, Benavides J, Ramirez C, Criollo A, Estrada-Florez A, Mateus G, Velez A, Carmona J, Olaya J, Garcia E, Polanco-Echeverry G, Stultz J, Alvarez C, Tapia T, Ashton-Prolla P; Brazilian Familial Cancer Network; Vega A, Lazaro C, Tornero E, Martinez-Bouzas C, Infante M, De La Hoya M, Diez O, Browning BL; COLUMBUS Consortium; Rannala B, Teixeira MR, Carvallo P, Echeverry M, Carvajal-Carmona LG. Tuazon AMA, et al. Breast Cancer Res. 2020 Oct 21;22(1):108. doi: 10.1186/s13058-020-01341-3. Breast Cancer Res. 2020. PMID: 33087180 Free PMC article.
Novel MLH1 duplication identified in Colombian families with Lynch syndrome.
Alonso-Espinaco V, Giráldez MD, Trujillo C, van der Klift H, Muñoz J, Balaguer F, Ocaña T, Madrigal I, Jones AM, Echeverry MM, Velez A, Tomlinson I, Milà M, Wijnen J, Carvajal-Carmona L, Castells A, Castellví-Bel S. Alonso-Espinaco V, et al. Genet Med. 2011 Feb;13(2):155-60. doi: 10.1097/GIM.0b013e318202e10b. Genet Med. 2011. PMID: 21233718 Free 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
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.
Clinical manifestations of colorectal cancer patients from a large multicenter study in Colombia.
Bohorquez M, Sahasrabudhe R, Criollo A, Sanabria-Salas MC, Vélez A, Castro JM, Marquez JR, Mateus G, Bolaños F, Panqueva C, Restrepo JI, Puerta JD, Murillo R, Bravo MM, Hernández G, Rios A, Prieto R, Tomlinson I, Echeverry M, Carvajal-Carmona LG. Bohorquez M, et al. Medicine (Baltimore). 2016 Oct;95(40):e4883. doi: 10.1097/MD.0000000000004883. Medicine (Baltimore). 2016. PMID: 27749544 Free PMC article.
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.
101 results