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Page 1
A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries.
Della Valle A, Rossi BM, Palmero EI, Antelo M, Vaccaro CA, López-Kostner F, Alvarez K, Cruz-Correa M, Bruno LI, Forones NM, Mindiola JAR, Buleje J, Spirandelli F, Bohorquez M, Cock-Rada AM, Sullcahuaman Y, Nascimento I, Abe-Sandes K, Lino-Silva LS, Petracchi F, Mampel A, Rodriguez Y, Rossi NT, Yañez CB, Rubio C, Petta-Lajus TB, Silveira-Lucas EL, Jiménez G, Peña CMM, Reyes-Silva C, Ayala-Madrigal ML, Del Monte JS, Quispe R, Recalde A, Neffa F, Sarroca C, de Campos Reis Galvão H, Golubicki M, Piñero TA, Kalfayan PG, Ferro FA, Gonzalez ML, Pérez-Mayoral J, Pimenta CAM, Uyaban SPB, Protzel A, Chávez G, Dueñas M, Gil MLG, Spirandelli E, Chialina S, Echeverry M, Fuenmayor LJP, Torres M, Palma TFB, Héritas NC, Martin C, Suárez A, Vallejo M, Rafaela de Souza Timoteo A, Ayala CA, Jaramillo-Koupermann G, Hernández-Sandoval JA, Guerrero AH, Dominguez-Barrera C, Bazo-Alvarez JC, Wernhoff P, Plazzer JP, Balavarca Y, Hovig E, Møller P, Dominguez-Valentin M; collaboration with LA-GETH. Della Valle A, et al. Among authors: echeverry m. Eur J Cancer. 2019 Sep;119:112-121. doi: 10.1016/j.ejca.2019.07.017. Epub 2019 Aug 20. Eur J Cancer. 2019. PMID: 31442815
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. Among authors: echeverry m. 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.
A Polygenic Risk Score for Breast Cancer in US Latinas and Latin American Women.
Shieh Y, Fejerman L, Lott PC, Marker K, Sawyer SD, Hu D, Huntsman S, Torres J, Echeverry M, Bohórquez ME, Martínez-Chéquer JC, Polanco-Echeverry G, Estrada-Flórez AP; COLUMBUS Consortium; Haiman CA, John EM, Kushi LH, Torres-Mejía G, Vidaurre T, Weitzel JN, Zambrano SC, Carvajal-Carmona LG, Ziv E, Neuhausen SL. Shieh Y, et al. Among authors: echeverry m. J Natl Cancer Inst. 2020 Jun 1;112(6):590-598. doi: 10.1093/jnci/djz174. J Natl Cancer Inst. 2020. PMID: 31553449 Free PMC article.
Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer Is Associated with Indigenous American Ancestry in Latin American Women.
Marker KM, Zavala VA, Vidaurre T, Lott PC, Vásquez JN, Casavilca-Zambrano S, Calderón M, Abugattas JE, Gómez HL, Fuentes HA, Picoaga RL, Cotrina JM, Neciosup SP, Castañeda CA, Morante Z, Valencia F, Torres J, Echeverry M, Bohórquez ME, Polanco-Echeverry G, Estrada-Florez AP, Serrano-Gómez SJ, Carmona-Valencia JA, Alvarado-Cabrero I, Sanabria-Salas MC, Velez A, Donado J, Song S, Cherry D, Tamayo LI, Huntsman S, Hu D, Ruiz-Cordero R, Balassanian R, Ziv E, Zabaleta J, Carvajal-Carmona L, Fejerman L; COLUMBUS Consortium. Marker KM, et al. Among authors: echeverry m. Cancer Res. 2020 May 1;80(9):1893-1901. doi: 10.1158/0008-5472.CAN-19-3659. Epub 2020 Apr 3. Cancer Res. 2020. PMID: 32245796 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. Among authors: echeverry m. Medicine (Baltimore). 2016 Oct;95(40):e4883. doi: 10.1097/MD.0000000000004883. Medicine (Baltimore). 2016. PMID: 27749544 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. Among authors: echeverry m. 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. Among authors: echeverry m. 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.
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. Among authors: echeverry m. 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. Among authors: echeverry mm. Genet Med. 2011 Feb;13(2):155-60. doi: 10.1097/GIM.0b013e318202e10b. Genet Med. 2011. PMID: 21233718 Free article.
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