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4 results on '"Kalfayan, Pablo German"'

1. Evaluation of MLH1 variants of unclear significance

Author

Köger, Nicole, primary, Paulsen, Lea, additional, López‐Kostner, Francisco, additional, Della Valle, Adriana, additional, Vaccaro, Carlos Alberto, additional, Palmero, Edenir Inêz, additional, Alvarez, Karin, additional, Sarroca, Carlos, additional, Neffa, Florencia, additional, Kalfayan, Pablo German, additional, Gonzalez, Maria Laura, additional, Rossi, Benedito Mauro, additional, Reis, Rui Manuel, additional, Brieger, Angela, additional, Zeuzem, Stefan, additional, Hinrichsen, Inga, additional, Dominguez‐Valentin, Mev, additional, and Plotz, Guido, additional

Published
2018
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2. A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America

Author

Rossi, Benedito Mauro, primary, Palmero, Edenir Inêz, additional, López-Kostner, Francisco, additional, Sarroca, Carlos, additional, Vaccaro, Carlos Alberto, additional, Spirandelli, Florencia, additional, Ashton-Prolla, Patricia, additional, Rodriguez, Yenni, additional, de Campos Reis Galvão, Henrique, additional, Reis, Rui Manuel, additional, Escremim de Paula, André, additional, Capochin Romagnolo, Luis Gustavo, additional, Alvarez, Karin, additional, Della Valle, Adriana, additional, Neffa, Florencia, additional, Kalfayan, Pablo German, additional, Spirandelli, Enrique, additional, Chialina, Sergio, additional, Gutiérrez Angulo, Melva, additional, Castro-Mujica, Maria del Carmen, additional, Sanchez de Monte, Julio, additional, Quispe, Richard, additional, da Silva, Sabrina Daniela, additional, Rossi, Norma Teresa, additional, Barletta-Carrillo, Claudia, additional, Revollo, Susana, additional, Taborga, Ximena, additional, Morillas, L. Lena, additional, Tubeuf, Hélène, additional, Monteiro-Santos, Erika Maria, additional, Piñero, Tamara Alejandra, additional, Dominguez-Barrera, Constantino, additional, Wernhoff, Patrik, additional, Martins, Alexandra, additional, Hovig, Eivind, additional, Møller, Pål, additional, and Dominguez-Valentin, Mev, additional

Published
2017
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3. Evaluation of <italic>MLH1</italic> variants of unclear significance.

Author

Köger, Nicole, Paulsen, Lea, López‐Kostner, Francisco, Della Valle, Adriana, Vaccaro, Carlos Alberto, Palmero, Edenir Inêz, Alvarez, Karin, Sarroca, Carlos, Neffa, Florencia, Kalfayan, Pablo German, Gonzalez, Maria Laura, Rossi, Benedito Mauro, Reis, Rui Manuel, Brieger, Angela, Zeuzem, Stefan, Hinrichsen, Inga, Dominguez‐Valentin, Mev, and Plotz, Guido

Published
2018
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4. From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America.

Author

Vaccaro CA, López-Kostner F, Adriana DV, Palmero EI, Rossi BM, Antelo M, Solano A, Carraro DM, Forones NM, Bohorquez M, Lino-Silva LS, Buleje J, Spirandelli F, Abe-Sandes K, Nascimento I, Sullcahuaman Y, Sarroca C, Gonzalez ML, Herrando AI, Alvarez K, Neffa F, Galvão HC, Esperon P, Golubicki M, Cisterna D, Cardoso FC, Torrezan GT, Junior SA, Pimenta CAM, da Cruz Formiga MN, Santos E, Sá CU, Oliveira EP, Fujita R, Spirandelli E, Jimenez G, Guindalini RSC, de Azevedo RGMV, Bueno LSM, Dos Santos Nogueira ST, Loarte MT, Padron J, Del Carmen Castro-Mujica M, Del Monte JS, Caballero C, Peña CMM, Pinto J, Barletta-Carrillo C, Melva GA, Piñero T, Beltran PM, Ashton-Prolla P, Rodriguez Y, Quispe R, Rossi NT, Martin C, Chialina S, Kalfayan PG, Bazo-Alvarez JC, Cañete AR, Dominguez-Barrera C, Nuñez L, Da Silva SD, Balavarca Y, Wernhoff P, Plazzer JP, Møller P, Hovig E, and Dominguez-Valentin M

Subjects
Colorectal Neoplasms, Hereditary Nonpolyposis genetics, Early Detection of Cancer, Female, Guideline Adherence, Humans, Latin America epidemiology, Male, Practice Guidelines as Topic, Risk Assessment, Colorectal Neoplasms, Hereditary Nonpolyposis diagnosis, Colorectal Neoplasms, Hereditary Nonpolyposis epidemiology, MutL Protein Homolog 1 genetics, MutS Homolog 2 Protein genetics
Abstract

Colorectal cancer (CRC) is one of the most common cancers in Latin America and the Caribbean, with the highest rates reported for Uruguay, Brazil and Argentina. We provide a global snapshot of the CRC patterns, how screening is performed, and compared/contrasted to the genetic profile of Lynch syndrome (LS) in the region. From the literature, we find that only nine (20%) of the Latin America and the Caribbean countries have developed guidelines for early detection of CRC, and also with a low adherence. We describe a genetic profile of LS, including a total of 2,685 suspected families, where confirmed LS ranged from 8% in Uruguay and Argentina to 60% in Peru. Among confirmed LS, path&#95;MLH1 variants were most commonly identified in Peru (82%), Mexico (80%), Chile (60%), and path&#95;MSH2/EPCAM variants were most frequently identified in Colombia (80%) and Argentina (47%). Path&#95;MSH6 and path&#95;PMS2 variants were less common, but they showed important presence in Brazil (15%) and Chile (10%), respectively. Important differences exist at identifying LS families in Latin American countries, where the spectrum of path&#95;MLH1 and path&#95;MSH2 variants are those most frequently identified. Our findings have an impact on the evaluation of the patients and their relatives at risk for LS, derived from the gene affected. Although the awareness of hereditary cancer and genetic testing has improved in the last decade, it is remains deficient, with 39%-80% of the families not being identified for LS among those who actually met both the clinical criteria for LS and showed MMR deficiency., (© 2018 The Authors. International Journal of Cancer published by John Wiley & Sons Ltd on behalf of UICC.)

Published
2019
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