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Page 1
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. Among authors: echeverry mm. Genet Med. 2011 Feb;13(2):155-60. doi: 10.1097/GIM.0b013e318202e10b. Genet Med. 2011. PMID: 21233718 Free article.
Two novel LKB1 mutations in Colombian Peutz-Jeghers syndrome patients.
Vélez A, Gaitan MH, Marquez JR, Castaño A, Restrepo JI, Jaramillo S, Gamarra A, Novelli M, Echeverry MM, Tomlinson I, Carvajal-Carmona LG. Vélez A, et al. Among authors: echeverry mm. Clin Genet. 2009 Mar;75(3):304-6. doi: 10.1111/j.1399-0004.2008.01144.x. Clin Genet. 2009. PMID: 19250387 No abstract available.
COGENT (COlorectal cancer GENeTics) revisited.
Houlston RS; members of COGENT. Houlston RS, et al. Mutagenesis. 2012 Mar;27(2):143-51. doi: 10.1093/mutage/ger059. Mutagenesis. 2012. PMID: 22294761 Free PMC article. Review.
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. Among authors: echeverry m. Medicine (Baltimore). 2016 Oct;95(40):e4883. doi: 10.1097/MD.0000000000004883. Medicine (Baltimore). 2016. PMID: 27749544 Free PMC article.
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.
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. Among authors: echeverry mm. 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.
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.
BRAF and TERT mutations in papillary thyroid cancer patients of Latino ancestry.
Estrada-Flórez AP, Bohórquez ME, Vélez A, Duque CS, Donado JH, Mateus G, Panqueba-Tarazona C, Polanco-Echeverry G, Sahasrabudhe R, Echeverry M, Carvajal-Carmona LG. Estrada-Flórez AP, et al. Endocr Connect. 2019 Sep;8(9):1310-1317. doi: 10.1530/EC-19-0376. Endocr Connect. 2019. PMID: 31454788 Free PMC article.
The 8q24 rs6983267G variant is associated with increased thyroid cancer risk.
Sahasrabudhe R, Estrada A, Lott P, Martin L, Polanco Echeverry G, Velez A, Neta G, Takahasi M, Saenko V, Mitsutake N; JTCMS Consortium; Jaeguer E, Duque CS, Rios A, Bohorquez M, Prieto R, Criollo A, Echeverry M, Tomlinson I; CORGI Consortium; TCUKIN Consortiums; Carmona LG. Sahasrabudhe R, et al. Endocr Relat Cancer. 2015 Oct;22(5):841-9. doi: 10.1530/ERC-15-0081. Epub 2015 Aug 19. Endocr Relat Cancer. 2015. PMID: 26290501 Free PMC article.
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