Search

Your search keyword '"Rossi, Benedito Mauro"' showing total 169 results
Start Over Author "Rossi, Benedito Mauro"
169 results on '"Rossi, Benedito Mauro"'

2. Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement

Author

Møller, Pal, Seppälä, Toni T., Ahadova, Aysel, Crosbie, Emma J., Holinski-Feder, Elke, Scott, Rodney, Haupt, Saskia, Möslein, Gabriela, Winship, Ingrid, Broeke, Sanne W. Bajwa-ten, Kohut, Kelly E., Ryan, Neil, Bauerfeind, Peter, Thomas, Laura E., Evans, D. Gareth, Aretz, Stefan, Sijmons, Rolf H., Half, Elizabeth, Heinimann, Karl, Horisberger, Karoline, Monahan, Kevin, Engel, Christoph, Cavestro, Giulia Martina, Fruscio, Robert, Abu-Freha, Naim, Zohar, Levi, Laghi, Luigi, Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Vaccaro, Carlos, Valle, Adriana Della, Rossi, Benedito Mauro, da Silva, Leandro Apolinário, de Oliveira Nascimento, Ivana Lucia, Rossi, Norma Teresa, Dębniak, Tadeusz, Mecklin, Jukka-Pekka, Bernstein, Inge, Lindblom, Annika, Sunde, Lone, Nakken, Sigve, Heuveline, Vincent, Burn, John, Hovig, Eivind, Kloor, Matthias, Sampson, Julian R., and Dominguez-Valentin, Mev

Published
2023
Full Text
View/download PDF

3. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Author

Dominguez-Valentin, Mev, Haupt, Saskia, Seppälä, Toni T., Sampson, Julian R., Sunde, Lone, Bernstein, Inge, Jenkins, Mark A., Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Balaguer, Francesc, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Della Valle, Adriana, Heinimann, Karl, Dębniak, Tadeusz, Fruscio, Robert, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Katz, Lior H., Laish, Ido, Vainer, Elez, Vaccaro, Carlos, Carraro, Dirce Maria, Monahan, Kevin, Half, Elizabeth, Stakelum, Aine, Winter, Des, Kennelly, Rory, Gluck, Nathan, Sheth, Harsh, Abu-Freha, Naim, Greenblatt, Marc, Rossi, Benedito Mauro, Bohorquez, Mabel, Cavestro, Giulia Martina, Lino-Silva, Leonardo S., Horisberger, Karoline, Tibiletti, Maria Grazia, Nascimento, Ivana do, Thomas, Huw, Rossi, Norma Teresa, Apolinário da Silva, Leandro, Zaránd, Attila, Ruiz-Bañobre, Juan, Heuveline, Vincent, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Therkildsen, Christina, Madsen, Mia Gebauer, Burgdorf, Stefan Kobbelgaard, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Schröck, Evelin, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, Redler, Silke, Büttner, Reinhard, Weitz, Jürgen, Pineda, Marta, Duenas, Nuria, Vidal, Joan Brunet, Moreira, Leticia, Sánchez, Ariadna, Hovig, Eivind, Nakken, Sigve, Green, Kate, Lalloo, Fiona, Hill, James, Crosbie, Emma, Mints, Miriam, Goldberg, Yael, Tjandra, Douglas, ten Broeke, Sanne W., Kariv, Revital, Rosner, Guy, Advani, Suresh H., Thomas, Lidiya, Shah, Pankaj, Shah, Mithun, Neffa, Florencia, Esperon, Patricia, Pavicic, Walter, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia Alejandra, Moslein, Gabriela, and Moller, Pål

Published
2023
Full Text
View/download PDF

4. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

Author

Møller, Pål, Seppälä, Toni, Dowty, James G., Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J., Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, Des, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, de Vargas, Aída Falcón, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie, Guillén-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K., Amor, David, Palmero, Edenir, Stoffel, Elena, Duijkers, Floor, Hall, Michael J., Hampel, Heather, Williams, Heinric, Okkels, Henrik, Lubiński, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G., Arnold, Julie, Wadt, Karin, Monahan, Kevin, Senter, Leigha, Rasmussen, Lene J., van Hest, Liselotte P., Ricciardiello, Luigi, Kohonen-Corish, Maija R. J., Ligtenberg, Marjolijn J. L., Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N., Samadder, N. Jewel, Poplawski, Nicola, Hoogerbrugge, Nicoline, Morrison, Patrick J., James, Paul, Lee, Grant, Chen-Shtoyerman, Rakefet, Ankathil, Ravindran, Pai, Rish, Ward, Robyn, Parry, Susan, Dębniak, Tadeusz, John, Thomas, van Overeem Hansen, Thomas, Caldés, Trinidad, Yamaguchi, Tatsuro, Barca-Tierno, Verónica, Garre, Pilar, Cavestro, Giulia Martina, Weitz, Jürgen, Redler, Silke, Büttner, Reinhard, Heuveline, Vincent, Hopper, John L., Win, Aung Ko, Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., ten Broeke, Sanne W., Hovig, Eivind, Nakken, Sigve, Pineda, Marta, Dueñas, Nuria, Brunet, Joan, Green, Kate, Lalloo, Fiona, Newton, Katie, Crosbie, Emma J., Mints, Miriam, Tjandra, Douglas, Neffa, Florencia, Esperon, Patricia, Kariv, Revital, Rosner, Guy, Pavicic, Walter Hernán, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R., and Jenkins, Mark A.

Published
2022
Full Text
View/download PDF

5. MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing

Author

Piñero, Tamara Alejandra, Soukarieh, Omar, Rolain, Marion, Alvarez, Karin, López-Köstner, Francisco, Torrezan, Giovana Tardin, Carraro, Dirce Maria, De Oliveira Nascimento, Ivana Lucia, Bomfim, Thaís Ferreira, Machado-Lopes, Taísa Manuela Bonfim, Freitas, Juliana Côrtes, Toralles, Maria Betânia, Sandes, Kiyoko Abe, Rossi, Benedito Mauro, Junior, Samuel Aguiar, Meira, Joanna, Dominguez-Valentin, Mev, Møller, Pål, Vaccaro, Carlos Alberto, Martins, Alexandra, and Pavicic, Walter Hernán

Published
2020
Full Text
View/download PDF

6. A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries

Author

Della Valle, Adriana, Rossi, Benedito Mauro, Palmero, Edenir Inêz, Antelo, Marina, Vaccaro, Carlos Alberto, López-Kostner, Francisco, Alvarez, Karin, Cruz-Correa, Marcia, Bruno, Luisina Inés, Forones, Nora Manoukian, Mindiola, Jorge Andres Rugeles, Buleje, José, Spirandelli, Florencia, Bohorquez, Mabel, Cock-Rada, Alicia Maria, Sullcahuaman, Yasser, Nascimento, Ivana, Abe-Sandes, Kiyoko, Lino-Silva, Leonardo S., Petracchi, Florencia, Mampel, Alejandra, Rodriguez, Yeni, Rossi, Norma Teresa, Yañez, Claudio Benavides, Rubio, Cladelis, Petta-Lajus, Tirzah Braz, Silveira-Lucas, Elizabeth Lemos, Jiménez, Geiner, Peña, Carlos Mario Muñeton, Reyes-Silva, Carlos, Ayala-Madrigal, María de la Luz, del Monte, Julio Sánchez, Quispe, Richard, Recalde, Alcides, Neffa, Florencia, Sarroca, Carlos, de Campos Reis Galvão, Henrique, Golubicki, Mariano, Piñero, Tamara A., Kalfayan, Pablo G., Ferro, Fabiana Alejandra, Gonzalez, Maria Laura, Pérez-Mayoral, Julyann, Pimenta, Celia Aparecida Marques, Uyaban, Sandra Patricia Bello, Protzel, Ana, Chávez, Guiliana, Dueñas, Milagros, Gil, María Luisa Guevara, Spirandelli, Enrique, Chialina, Sergio, Echeverry, Magdalena, Fuenmayor, Luis José Palacios, Torres, Mariela, Palma, Thais F.Bonfim, Héritas, Nadia Cambados, Martin, Claudia, Suárez, Alfonso, Vallejo, Michael, Rafaela de Souza Timoteo, Ana, Ayala, Carlos Afanador, Jaramillo-Koupermann, Gabriela, Hernández-Sandoval, Jesús Arturo, Guerrero, Angélica Hernandez, Dominguez-Barrera, Constantino, Bazo-Alvarez, Juan Carlos, Wernhoff, Patrik, Plazzer, John-Paul, Balavarca, Yesilda, Hovig, Eivind, Møller, Pål, and Dominguez-Valentin, Mev

Published
2019
Full Text
View/download PDF

8. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment:a report from the prospective Lynch syndrome database

Author

Dominguez-Valentin, Mev, Haupt, Saskia, Seppälä, Toni T., Sampson, Julian R., Sunde, Lone, Bernstein, Inge, Jenkins, Mark A., Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Balaguer, Francesc, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John Paul, Sijmons, Rolf, Laghi, Luigi, Della Valle, Adriana, Heinimann, Karl, Dębniak, Tadeusz, Fruscio, Robert, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Katz, Lior H., Laish, Ido, Vainer, Elez, Vaccaro, Carlos, Carraro, Dirce Maria, Monahan, Kevin, Half, Elizabeth, Stakelum, Aine, Winter, Des, Kennelly, Rory, Gluck, Nathan, Sheth, Harsh, Abu-Freha, Naim, Greenblatt, Marc, Rossi, Benedito Mauro, Bohorquez, Mabel, Cavestro, Giulia Martina, Lino-Silva, Leonardo S., Horisberger, Karoline, Tibiletti, Maria Grazia, Nascimento, Ivana do, Thomas, Huw, Rossi, Norma Teresa, Apolinário da Silva, Leandro, Zaránd, Attila, Ruiz-Bañobre, Juan, Heuveline, Vincent, Mecklin, Jukka Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Therkildsen, Christina, Madsen, Mia Gebauer, Burgdorf, Stefan Kobbelgaard, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Schröck, Evelin, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, Redler, Silke, Büttner, Reinhard, Weitz, Jürgen, Pineda, Marta, Duenas, Nuria, Vidal, Joan Brunet, Moreira, Leticia, Sánchez, Ariadna, Hovig, Eivind, Nakken, Sigve, Green, Kate, Lalloo, Fiona, Hill, James, Crosbie, Emma, Mints, Miriam, Goldberg, Yael, Tjandra, Douglas, ten Broeke, Sanne W., Kariv, Revital, Rosner, Guy, Advani, Suresh H., Thomas, Lidiya, Shah, Pankaj, Shah, Mithun, Neffa, Florencia, Esperon, Patricia, Pavicic, Walter, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia Alejandra, Moslein, Gabriela, Moller, Pål, Dominguez-Valentin, Mev, Haupt, Saskia, Seppälä, Toni T., Sampson, Julian R., Sunde, Lone, Bernstein, Inge, Jenkins, Mark A., Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Balaguer, Francesc, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John Paul, Sijmons, Rolf, Laghi, Luigi, Della Valle, Adriana, Heinimann, Karl, Dębniak, Tadeusz, Fruscio, Robert, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Katz, Lior H., Laish, Ido, Vainer, Elez, Vaccaro, Carlos, Carraro, Dirce Maria, Monahan, Kevin, Half, Elizabeth, Stakelum, Aine, Winter, Des, Kennelly, Rory, Gluck, Nathan, Sheth, Harsh, Abu-Freha, Naim, Greenblatt, Marc, Rossi, Benedito Mauro, Bohorquez, Mabel, Cavestro, Giulia Martina, Lino-Silva, Leonardo S., Horisberger, Karoline, Tibiletti, Maria Grazia, Nascimento, Ivana do, Thomas, Huw, Rossi, Norma Teresa, Apolinário da Silva, Leandro, Zaránd, Attila, Ruiz-Bañobre, Juan, Heuveline, Vincent, Mecklin, Jukka Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Therkildsen, Christina, Madsen, Mia Gebauer, Burgdorf, Stefan Kobbelgaard, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Schröck, Evelin, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, Redler, Silke, Büttner, Reinhard, Weitz, Jürgen, Pineda, Marta, Duenas, Nuria, Vidal, Joan Brunet, Moreira, Leticia, Sánchez, Ariadna, Hovig, Eivind, Nakken, Sigve, Green, Kate, Lalloo, Fiona, Hill, James, Crosbie, Emma, Mints, Miriam, Goldberg, Yael, Tjandra, Douglas, ten Broeke, Sanne W., Kariv, Revital, Rosner, Guy, Advani, Suresh H., Thomas, Lidiya, Shah, Pankaj, Shah, Mithun, Neffa, Florencia, Esperon, Patricia, Pavicic, Walter, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia Alejandra, Moslein, Gabriela, and Moller, Pål

Abstract

Background The Prospective Lynch Syndrome Database (PLSD) collates information on carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who are receiving medical follow-up, including colonoscopy surveillance, which aims to the achieve early diagnosis and treatment of cancers. Here we use the most recent PLSD cohort that is larger and has wider geographical representation than previous versions, allowing us to present mortality as an outcome, and median ages at cancer diagnoses for the first time. Methods The PLSD is a prospective observational study without a control group that was designed in 2012 and updated up to October 2022. Data for 8500 carriers of path_MMR variants from 25 countries were included, providing 71,713 years of follow up. Cumulative cancer incidences at 65 years of age were combined with 10-year crude survival following cancer, to derive estimates of mortality up to 75 years of age by organ, gene, and gender. Findings Gynaecological cancers were more frequent than colorectal cancers in path_MSH2, path_MSH6 and path_PMS2 carriers [cumulative incidence: 53.3%, 49.6% and 23.3% at 75 years, respectively]. Endometrial, colon and ovarian cancer had low mortality [8%, 13% and 15%, respectively] and prostate cancers were frequent in male path_MSH2 carriers [cumulative incidence: 39.7% at 75 years]. Pancreatic, brain, biliary tract and ureter and kidney and urinary bladder cancers were associated with high mortality [83%, 66%, 58%, 27%, and 29%, respectively]. Among path_MMR carriers undergoing colonoscopy surveillance, particularly path_MSH2 carriers, more deaths followed non-colorectal Lynch syndrome cancers than colorectal cancers. Interpretation In path_MMR carriers undergoing colonoscopy surveillance, non-colorectal Lynch syndrome cancers were associated with more deaths than were colorectal cancers. Reducing deaths from non-colorectal cancers presents a key challenge in contemporary medical ca, Background: The Prospective Lynch Syndrome Database (PLSD) collates information on carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who are receiving medical follow-up, including colonoscopy surveillance, which aims to the achieve early diagnosis and treatment of cancers. Here we use the most recent PLSD cohort that is larger and has wider geographical representation than previous versions, allowing us to present mortality as an outcome, and median ages at cancer diagnoses for the first time. Methods: The PLSD is a prospective observational study without a control group that was designed in 2012 and updated up to October 2022. Data for 8500 carriers of path_MMR variants from 25 countries were included, providing 71,713 years of follow up. Cumulative cancer incidences at 65 years of age were combined with 10-year crude survival following cancer, to derive estimates of mortality up to 75 years of age by organ, gene, and gender. Findings: Gynaecological cancers were more frequent than colorectal cancers in path_MSH2, path_MSH6 and path_PMS2 carriers [cumulative incidence: 53.3%, 49.6% and 23.3% at 75 years, respectively]. Endometrial, colon and ovarian cancer had low mortality [8%, 13% and 15%, respectively] and prostate cancers were frequent in male path_MSH2 carriers [cumulative incidence: 39.7% at 75 years]. Pancreatic, brain, biliary tract and ureter and kidney and urinary bladder cancers were associated with high mortality [83%, 66%, 58%, 27%, and 29%, respectively]. Among path_MMR carriers undergoing colonoscopy surveillance, particularly path_MSH2 carriers, more deaths followed non-colorectal Lynch syndrome cancers than colorectal cancers. Interpretation: In path_MMR carriers undergoing colonoscopy surveillance, non-colorectal Lynch syndrome cancers were associated with more deaths than were colorectal cancers. Reducing deaths from non-colorectal cancers presents a key challenge in contemporary medical care in Lynch syndrome. Funding: We ac

Published
2023

9. Extracolonic Tumors

Author

Rossi, Benedito Mauro, de Oliveira Ferreira, Fabio, Rodriguez-Bigas, Miguel A., editor, Cutait, Raul, editor, Lynch, Patrick M., editor, Tomlinson, Ian, editor, and Vasen, Hans F.A., editor

Published
2010
Full Text
View/download PDF

12. Additional file 1 of Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

Author

Møller, Pål, Seppälä, Toni, Dowty, James G., Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J., Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, Des, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, de Vargas, Aída Falcón, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie, Guillén-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K., Amor, David, Palmero, Edenir, Stoffel, Elena, Duijkers, Floor, Hall, Michael J., Hampel, Heather, Williams, Heinric, Okkels, Henrik, Lubiński, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G., Arnold, Julie, Wadt, Karin, Monahan, Kevin, Senter, Leigha, Rasmussen, Lene J., van Hest, Liselotte P., Ricciardiello, Luigi, Kohonen-Corish, Maija R. J., Ligtenberg, Marjolijn J. L., Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N., Samadder, N. Jewel, Poplawski, Nicola, Hoogerbrugge, Nicoline, Morrison, Patrick J., James, Paul, Lee, Grant, Chen-Shtoyerman, Rakefet, Ankathil, Ravindran, Pai, Rish, Ward, Robyn, Parry, Susan, Dębniak, Tadeusz, John, Thomas, van Overeem Hansen, Thomas, Caldés, Trinidad, Yamaguchi, Tatsuro, Barca-Tierno, Verónica, Garre, Pilar, Cavestro, Giulia Martina, Weitz, Jürgen, Redler, Silke, Büttner, Reinhard, Heuveline, Vincent, Hopper, John L., Win, Aung Ko, Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., ten Broeke, Sanne W., Hovig, Eivind, Nakken, Sigve, Pineda, Marta, Dueñas, Nuria, Brunet, Joan, Green, Kate, Lalloo, Fiona, Newton, Katie, Crosbie, Emma J., Mints, Miriam, Tjandra, Douglas, Neffa, Florencia, Esperon, Patricia, Kariv, Revital, Rosner, Guy, Pavicic, Walter Hernán, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R., and Jenkins, Mark A.

Abstract

Additional file 1.

Published
2022
Full Text
View/download PDF

13. Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers

Author

Sandoval, Renata Lazari, primary, Polidorio, Natalia, additional, Leite, Ana Carolina Rathsam, additional, Cartaxo, Mariana, additional, Pisani, Janina Pontes, additional, Quirino, Carla Vanessa, additional, Cezana, Loureno, additional, Pereira, Natálya Gonçalves, additional, Pereira, Allan Andresson Lima, additional, Rossi, Benedito Mauro, additional, and Achatz, Maria Isabel, additional

Published
2022
Full Text
View/download PDF

16. Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals

Author

Valentin, Mev Dominguez, Silva, Felipe Carneiro da, Santos, Erika Maria Monteiro dos, Lisboa, Bianca Garcia, de Oliveira, Ligia Petrolini, Ferreira, Fabio de Oliveira, Gomy, Israel, Nakagawa, Wilson Toshihiko, Aguiar Junior, Samuel, Redal, Mariana, Vaccaro, Carlos, Valle, Adriana Della, Sarroca, Carlos, Carraro, Dirce Maria, and Rossi, Benedito Mauro

Published
2011
Full Text
View/download PDF

29. 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
Full Text
View/download PDF

30. 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
Full Text
View/download PDF

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

Author

Vaccaro, Carlos Alberto, López‐Kostner, Francisco, Adriana, Della Valle, Palmero, Edenir Inez, Rossi, Benedito Mauro, Antelo, Marina, Solano, Angela, Carraro, Dirce Maria, Forones, Nora Manoukian, Bohorquez, Mabel, Lino‐Silva, Leonardo S., Buleje, Jose, Spirandelli, Florencia, Abe‐Sandes, Kiyoko, Nascimento, Ivana, Sullcahuaman, Yasser, Sarroca, Carlos, Gonzalez, Maria Laura, Herrando, Alberto Ignacio, and Alvarez, Karin

Subjects
COLON cancer patients, GENETIC research, HEREDITARY nonpolyposis colorectal cancer, STOMACH cancer, ECONOMIC development, OBESITY
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_MLH1 variants were most commonly identified in Peru (82%), Mexico (80%), Chile (60%), and path_MSH2/EPCAM variants were most frequently identified in Colombia (80%) and Argentina (47%). Path_MSH6 and path_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_MLH1 and path_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. [ABSTRACT FROM AUTHOR]

Published
2019
Full Text
View/download PDF

34. 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
Full Text
View/download PDF

36. Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome

Author

Carneiro da Silva, Felipe, primary, Ferreira, José Roberto de Oliveira, additional, Torrezan, Giovana Tardin, additional, Figueiredo, Márcia Cristina Pena, additional, Santos, Érika Maria Monteiro, additional, Nakagawa, Wilson Toshihiko, additional, Brianese, Rafael Canfield, additional, Petrolini de Oliveira, Ligia, additional, Begnani, Maria Dirlei, additional, Aguiar-Junior, Samuel, additional, Rossi, Benedito Mauro, additional, Ferreira, Fábio de Oliveira, additional, and Carraro, Dirce Maria, additional

Published
2015
Full Text
View/download PDF

37. Angiogenesis-related protein expression in bevacizumab-treated metastatic colorectal cancer: NOTCH1 detrimental to overall survival

Author

Paiva, Tadeu Ferreira, primary, de Jesus, Victor Hugo Fonseca, additional, Marques, Raul Amorim, additional, da Costa, Alexandre André Balieiro Anastácio, additional, de Macedo, Mariana Petaccia, additional, Peresi, Patricia Maria, additional, Damascena, Aline, additional, Rossi, Benedito Mauro, additional, Begnami, Maria Dirlei, additional, and de Lima, Vladmir Cláudio Cordeiro, additional

Published
2015
Full Text
View/download PDF

39. Mismatch repair genes in Lynch syndrome: a review

Author

Silva, Felipe Cavalcanti Carneiro da, Valentin, Mev Dominguez, Ferreira, Fábio de Oliveira, Carraro, Dirce Maria, and Rossi, Benedito Mauro

Subjects
Câncer colorretal hereditário sem polipose, congenital, hereditary, and neonatal diseases and abnormalities, nutritional and metabolic diseases, DNA repair, digestive system diseases, Lynch syndrome, Síndrome de Lynch, Mutation, Câncer, Reparo de DNA, neoplasms, Hereditary nonpolyposis colorectal cancer, Mutação, Cancer
Abstract

Lynch syndrome represents 1-7% of all cases of colorectal cancer and is an autosomal-dominant inherited cancer predisposition syndrome caused by germline mutations in deoxyribonucleic acid (DNA) mismatch repair genes. Since the discovery of the major human genes with DNA mismatch repair function, mutations in five of them have been correlated with susceptibility to Lynch syndrome: mutS homolog 2 (MSH2); mutL homolog 1 (MLH1); mutS homolog 6 (MSH6); postmeiotic segregation increased 2 (PMS2); and postmeiotic segregation increased 1 (PMS1). It has been proposed that one additional mismatch repair gene, mutL homolog 3 (MLH3), also plays a role in Lynch syndrome predisposition, but the clinical significance of mutations in this gene is less clear. According to the InSiGHT database (International Society for Gastrointestinal Hereditary Tumors), approximately 500 different LS-associated mismatch repair gene mutations are known, primarily involving MLH1 (50%) and MSH2 (40%), while others account for 10%. Much progress has been made in understanding the molecular basis of Lynch Syndrome. Molecular characterization will be the most accurate way of defining Lynch syndrome and will provide predictive information of greater accuracy regarding the risks of colon and extracolonic cancer and enable optimal cancer surveillance regimens. A síndrome de Lynch representa de 1-7% de todos os casos de câncer colorretal. É uma síndrome de herança autossômica dominante que predispõe ao câncer e é causada por mutações nos genes de reparo de ácido desoxirribonucléico (DNA). Desde a descoberta dos principais genes com função de reparo de DNA, mutações nos genes MSH2, MLH1, MSH6, PMS2 e PMS1 estão relacionadas com a susceptibilidade à síndrome de Lynch. Outro gene, MLH3, tem sido proposto como tendo papel na predisposição à síndrome de Lynch, porém mutações de significância clínica nesse gene não são claras. De acordo com o banco de dados InSiGHT (International Society for Gastrointestinal Hereditary Tumors), aproximadamente 500 diferentes mutações associadas à síndrome de Lynch são conhecidas, envolvendo primeiramente MLH1 (50%), MSH2 (40%) e outros (10%). Grandes progressos têm ocorrido para nosso entendimento das bases moleculares da síndrome de Lynch. A caracterização molecular será a forma mais precisa para definirmos a síndrome de Lynch e irá fornecer informações preditivas mais precisas sobre o risco de câncer colorretal e extra-colônico, além de permitir regimes otimizados de manejo.

Published
2009

40. Reconstrução com retalho miocutâneo anterior da coxa após hemipelvectomia por carcinoma de células escamosas de região glútea: relato de caso

Author

Corrêa, Danton Spohr, Rossi, Benedito Mauro, Ferreira, Fábio de Oliveira, Nakagawa, Wilson Toshihiko, Guimarães, Gustavo Cardoso, and Lopes, Ademar

Subjects
Retalhos Cirúrgicos, Surgical Flap, Hemipelvectomia, Hemipelvectomy, Thigh, Reconstruction, Coxa, Reconstrução
Abstract

Hemipelvectomy utilizing an anterior myocutaneous flap is indicted for extensive tumors of the buttock and posterior proximal portion of the thigh. A 49-year-old man came to the clinic with a tumor that had been progressively growing over three years. It was at the left buttock, and originated from an area of a previous scar and chronic ulceration. The tumor was infected and ulcerated, infiltrating to skin, subcutaneous fat, and gluteal musculature, being fixed to the iliac bone, hip joint and great trocanter. A CT-scan of the area showed infiltration of the structures above. An open biopsy was done and revealed a squamous cell carcinoma. External hemipelvectomy was the treatment option. A large defect was created after resection of the lower extremity, hemipelvis and buttock. An anterior myocutaneous flap of the quadriceps femoris, adductors, sartorius, pectineum and gracilis muscles with overlying subcutaneus fat and skin was done. The femoral vessels were used to mantain the flap viable. The post-operative course was uneventful and the flap remained fully viable. Some aspects of the technique are presented. Hemipelvectomia utilizando retalho miocutâneo anterior é indicada para tumores extensos da região glútea e parte posterior proximal da coxa. Um paciente do sexo masculino com 49 anos apresentou-se para tratamento de tumor ulcerado e infectado com crescimento progressivo há 3 anos em região glútea esquerda, originado de uma área de ulceração e cicatrização crônicas provocadas pela aplicação de múltiplas injeções de drogas ilícitas no local. O tumor infiltrava a pele, tecido celular subcutâneo e musculatura glútea, estando fixo ao osso ilíaco, articulação coxo-femural e trocanter maior. A tomografia computadorizada da pelve confirmou os achados do exame físico. A biópsia aberta foi realizada e revelou um carcinoma de células escamosas. Hemipelvectomia externa foi a opção escolhida para o tratamento. Um grande defeito foi criado após ressecção da extremidade inferior, hemipélvis e glúteo. Um retalho miocutâneo anterior do músculo quadríceps femural, adutores, sartório, pectíneo e grácil com pele e tecido celular subcutâneo sobrejacentes foi realizado. Os vasos femurais foram utilizados para manter o retalho viável. A recuperação pós-operatória aconteceu sem intercorrências e o retalho permaneceu totalmente viável. Alguns aspectos da técnica são apresentados.

Published
2002

41. Tumores colorretais hereditários

Author

Rossi, Benedito Mauro, Pinho, Mauro de Souza Leite, Nakagawa, Wilson Toshihiko, Johnson, Luis Fernando Pinto, and Lopes, Ademar

Subjects
Polipose adenomatosa familiar, Adenoma, Câncer colorretal hereditário sem polipose, Familial adenomatous polyposis, congenital, hereditary, and neonatal diseases and abnormalities, Hereditary non-polyposis colorectal cancer, FAP, HNPCC, Testes genéticos, digestive system diseases, Genetic tests
Abstract

Cerca de 4% a 15% dos tumores colorretais são hereditários e divididos em dois grupos: polipose adenomatosa familiar (FAP) e câncer colorretal hereditário sem polipose (HNPCC). Ambas são doenças autossômicas dominantes, com transmissão vertical, geração após geração, sem preferência por sexo. A FAP tem penetrância praticamente completa, caracterizada por mais de cem pólipos adenomatosos no intestino grosso, que aparecem em geral após a puberdade e se transformam em câncer em todos os casos não tratados, levando o paciente ao óbito em tomo dos 45 anos de idade. Manifestações extracolônicas são comuns, tais como: pólipos em estômago e duodeno, sarcomas abdominais, pigmentação de retina, osteomas, entre outras. A FAP é causada por mutação no gene APC, que está localizado no cromossomo 5q. Seu tratamento é basicamente cirúrgico, com retirada do intestino grosso, podendo-se preservar o reto, se este não apresentar muitos pólipos. O HNPCC tem penetrância em torno de 80% e não apresenta os pólipos benignos como na FAP, que permitem identificar pacientes com o fenótipo da doença. Geralmente, o diagnóstico da lesão colônica é realizado já na fase maligna, em torno dos 45 anos de idade, com preferência para o lado direito do cólon. Pode haver associação com tumores de endométrio na mulher, estômago, pâncreas, entre outros. É causada por mutação em genes de reparo do DNA (hMSH2, hMLH1, hPMS1, hPMS2, hMSH6/GTBP). A colectomia total deve ser realizada em pacientes com câncer de cólon e HNPCC. Se o tumor estiver localizado no reto, a proctocolectomia total pode ser uma opção. Em indivíduos portadores do defeito genético predisponente ao HNPCC, porém, assintomáticos, a indicação de cirurgias profiláticas é controversa. Atualmente, podem-se identificar indivíduos portadores de defeito genético herdado tanto na FAP como no HNPCC. Esses testes baseiam-se no estudo direto dos genes responsáveis pela respectiva doença ou pela proteína produto dos mesmos. É de suma importância uma abordagem multidisciplinar de pacientes portadores de FAP ou HNPCC, pois existe uma preocupação ética muito grande na realização dos testes genéticos de predisposição, considerando suas conseqüências psicológicas e sociais. About 15% of the colorectal tumors are hereditary. There are two main groups: the familiar adenomatous polyposis (FAP) and the non-polyposis colorectal cancer (HNPCC), both autosomal dominant diseases. Patients with FAP present hundreds to thousands of adenomas in colorectum. usually after puberty. The cause of FAP is mutation of the adenomatous polyposis coli (APC) gene, located on long arm of chromosome 5 (5q). Patients who have not undergone to colectomy, the only treatment avaiable, will develop colorectal cancer and die at the age of 45 years. Extracolonic manifestations can occur: gastric and small bowel adenomas, soft tissue tumors, retinal pigmentation. osteomas. Patients with HNPCC do not present hundreds of benign polyps, but already a solitary colorectal cancer: This disease is caused by mutations in one of the several mismatch repair genes (hMSH2, hMLHI, hPMSI, hPMS2, hPMS6/GTBP). The average age of the diagnosis is 45 years and usually the disease produces cancer in the right colon. Other carcinomas can occur: endometrial, stomach, pancreas and others. Prophylactic surgery in asymptomatic gene carriers are controversial. Nowadays it is possible to identify asymptomatic genes carriers of FAP and HNPCC by genetic testing. The analysis can be done by direct gene sequencing or by in vitro synthesized protein assay (IVSP), which finds defective truncate proteins. Genetic testing for hereditary forms of colorectal cancer requires not only an appropriate laboratory, but genetic counseling with an ethical multidisciplinary approach considering the psychological and social consequences.

Published
1998

43. Abstract A025: Screening for genomic rearrangements and germline mutations in BRCA1 and BRCA2 genes in hereditary breast cancer unrelated Brazilian families

Author

Figueiredo, Marcia Cristina Pena, primary, Silva, Felipe Carneiro, additional, Lisboa, Bianca Cristina Garcia, additional, Torrezan, Giovana Tardin, additional, Ferreira, Elisa Napolitano e, additional, Santos, Erika Maria Monteiro, additional, Krepischi, Ana Cristina, additional, Achatz, Maria Isabel Waddington, additional, Rossi, Benedito Mauro, additional, and Carraro, Dirce Maria, additional

Published
2013
Full Text
View/download PDF

44. NOTCH1 as a potential prognostic biomarker for anti-VEGF therapy in patients with metastatic colorectal cancer.

Author

Paiva, Tadeu Ferreira, primary, da Costa, Alexandre Andre Balieiro Anastacio, additional, Pinto, Flavio Augusto Ismael, additional, Jesus, Victor Hugo Fonseca, additional, Marques, Raul A., additional, Peresi, Patricia, additional, Macedo, Mariana Petaccia, additional, Chinen, Ludmilla T. D., additional, Rossi, Benedito Mauro, additional, Begnami, Maria D., additional, and Lima, Vladmir C., additional

Published
2013
Full Text
View/download PDF

45. Mutational spectrum of the APC and MUTYH genes and genotype–phenotype correlations in Brazilian FAP, AFAP, and MAP patients

Author

Torrezan, Giovana Tardin, primary, da Silva, Felipe Cavalcanti Carneiro, additional, Santos, Érika Maria Monteiro, additional, Krepischi, Ana Cristina Victorino, additional, Achatz, Maria Isabel Waddington, additional, Junior, Samuel Aguiar, additional, Rossi, Benedito Mauro, additional, and Carraro, Dirce Maria, additional

Published
2013
Full Text
View/download PDF

46. Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study.

Author

Park, Jae-Gahb, Kim, Duck-Woo, Hong, Chang Won, Nam, Byung-Ho, Shin, Young-Kyoung, Hong, Sung-Hye, Kim, Il-Jin, Lim, Seok-Byung, Aronson, Melyssa, Bisgaard, Marie Luise, Brown, Gregor J, Burn, John, Chow, Elizabeth, Conrad, Peggy, Douglas, Fiona, Dunlop, Malcolm, Ford, James, Greenblatt, Marc S, Heikki, Jarvinen, Heinimann, Karl, Lynch, Elly L, Macrae, Finlay, McKinnon, Wendy C, Möeslein, Gabriela, Rossi, Benedito Mauro, Rozen, Paul, Schofield, Lyn, Vaccaro, Carlos, Vasen, Hans, Velthuizen, Mary, Viel, Alessandra, Wijnen, Juul, Park, Jae-Gahb, Kim, Duck-Woo, Hong, Chang Won, Nam, Byung-Ho, Shin, Young-Kyoung, Hong, Sung-Hye, Kim, Il-Jin, Lim, Seok-Byung, Aronson, Melyssa, Bisgaard, Marie Luise, Brown, Gregor J, Burn, John, Chow, Elizabeth, Conrad, Peggy, Douglas, Fiona, Dunlop, Malcolm, Ford, James, Greenblatt, Marc S, Heikki, Jarvinen, Heinimann, Karl, Lynch, Elly L, Macrae, Finlay, McKinnon, Wendy C, Möeslein, Gabriela, Rossi, Benedito Mauro, Rozen, Paul, Schofield, Lyn, Vaccaro, Carlos, Vasen, Hans, Velthuizen, Mary, Viel, Alessandra, and Wijnen, Juul

Abstract

Udgivelsesdato: 2006-Jun-1, PURPOSE: The aim of study was to determine the clinical characteristics and mutational profiles of the mismatch repair genes in hereditary nonpolyposis colorectal cancer (HNPCC) patients with small bowel cancer (SBC). EXPERIMENTAL DESIGN: A questionnaire was mailed to 55 members of the International Society for Gastrointestinal Hereditary Tumours, requesting information regarding patients with HNPCC-associated SBC and germ line mismatch repair gene mutations. RESULTS: The study population consisted of 85 HNPCC patients with identified mismatch repair gene mutations and SBCs. SBC was the first HNPCC-associated malignancy in 14 of 41 (34.1%) patients for whom a personal history of HNPCC-associated cancers was available. The study population harbored 69 different germ line mismatch repair gene mutations, including 31 mutations in MLH1, 34 in MSH2, 3 in MSH6, and 1 in PMS2. We compared the distribution of the mismatch repair mutations in our study population with that in a control group, including all pathogenic mismatch repair mutations of the International Society for Gastrointestinal Hereditary Tumours database (excluding those in our study population). In patients with MSH2 mutations, patients with HNPCC-associated SBCs had fewer mutations in the MutL homologue interaction domain (2.9% versus 19.9%, P = 0.019) but an increased frequency of mutations in codons 626 to 733, a domain that has not previously been associated with a known function, versus the control group (26.5% versus 2.8%, P < 0.001). CONCLUSIONS: In HNPCC patients, SBC can be the first and only cancer and may develop as soon as the early teens. The distribution of MSH2 mutations found in patients with HNPCC-associated SBCs significantly differed from that found in the control group (P < 0.001).

Published
2006

47. Colorectal cancer inherited susceptibility: The first replication study in the Brazilian population.

Author

Gomy, Israel, primary, Santos, Erika Maria Monteiro, additional, Spilborghs, Graziela Machado Gruner Turco, additional, Viola, Sandra Regina de Araujo da Silva, additional, Aguiar, Samuel, additional, Carraro, Dirce Maria, additional, Rogatto, Silvia Regina, additional, Carvajal-Carmona, Luis, additional, and Rossi, Benedito Mauro, additional

Published
2013
Full Text
View/download PDF

48. Chordoma: retrospective analysis of 24 cases

Author

Lopes,Ademar, Rossi,Benedito Mauro, Silveira,Claudio Regis Sampaio, and Alves,Antonio Correa

Subjects
musculoskeletal diseases, treatment, Chordoma, notochord, bone tumor, sacral tumor
Abstract

INTRODUCTION: Chordoma is a rare and slow-growing tumor, with local aggressiveness and preferential localization in the vertebral column. OBJECTIVE: The main objective of this study is to evaluate natural history and results of treatment of chordomas. METHODOLOGY: This is a retrospective study from 1953 to 1993. MATERIAL AND METHODS: The age ranged from 2 to 86 years (mean=34.5). Twelve patients were male and 12 female. The localization of the tumor was: 20 in the sacral region, 3 in head and neck and one out of the spine. RESULTS: The treatment, alone or combined, was surgery, radiation therapy and chemotherapy. The survival rate for patients with lesions in the sacrum ranged from 4 to 119 months, since the date of the symptoms. The 5-year overall survival was 4.2%. CONCLUSION: Chordoma is a rare and slow growing tumor, with a very difficult approach by surgery due to its preferential location in the sacrum and poor therapeutic results with radiation therapy or chemotherapy, mainly in patients with advanced disease. INTRODUÇÃO: O cordoma é um tumor raro e de crescimento lento, com agressividade local e localização preferencial na coluna vertebral. OBJETIVO: O objetivo principal deste estudo e analisar a historia natural e os resultados de tratamento dos cordomas. METODOLOGIA: Este é um estudo retrospectivo realizado entre 1953 e 1993. MATERIAL E MÉTODOS: A idade variou de 2 a 86 anos (média=34,5). Doze pacientes eram do sexo masculino e 12 do sexo feminino. A localização do tumor era: região sacral em 20 casos, cabeça e pescoço em 3 casos e fora da coluna em um caso. RESULTADOS: O tratamento, sozinho ou combinado, foi cirurgia, radioterapia e quimioterapia. A sobrevida para pacientes com lesões no sacro variou de 4 a 119 meses, desde a data dos sintomas. A sobrevida global em 5 anos foi de 4,2%. CONCLUSÃO: Cordoma é um tumor raro e de crescimento lento, com uma abordagem terapêutica cirúrgica difícil devido a sua localização preferencial no sacro e resultados pobres com radioterapia ou quimioterapia, principalmente em pacientes com doença avançada.

Published
1996

50. Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries

Author

Monteiro Santos, Erika Maria, primary, Valentin, Mev Dominguez, additional, Carneiro, Felipe, additional, de Oliveira, Ligia Petrolini, additional, de Oliveira Ferreira, Fabio, additional, Junior, Samuel Aguiar, additional, Nakagawa, Wilson Toshihiko, additional, Gomy, Israel, additional, de Faria Ferraz, Victor Evangelista, additional, da Silva Junior, Wilson Araujo, additional, Carraro, Dirce Maria, additional, and Rossi, Benedito Mauro, additional

Published
2012
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results