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2. 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
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3. 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
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4. 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

5. 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
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6. The Management of Peutz-Jeghers Syndrome : European Hereditary Tumour Group (EHTG) Guideline

Author

Wagner, Anja, Aretz, Stefan, Auranen, Annika, Bruno, Marco J., Cavestro, Giulia M., Crosbie, Emma J., Goverde, Anne, Jelsig, Anne Marie, Latchford, Andrew R., van Leerdam, Monique E., Lepisto, Anna H., Puzzono, Marta, Winship, Ingrid, Zuber, Veronica, Moslein, Gabriela, HUS Abdominal Center, II kirurgian klinikka, Clinicum, and Helsinki University Hospital Area

Subjects
3121 General medicine, internal medicine and other clinical medicine, Jeghers syndrome, STK11, Peutz&#8211, guideline
Abstract

The scientific data to guide the management of Peutz-Jeghers syndrome (PJS) are sparse. The available evidence has been reviewed and discussed by diverse medical specialists in the field of PJS to update the previous guideline from 2010 and formulate a revised practical guideline for colleagues managing PJS patients. Methods: Literature searches were performed using MEDLINE, Embase, and Cochrane. Evidence levels and recommendation strengths were assessed using the Grading of Recommendations Assessment, Development and Evaluation (GRADE). A Delphi process was followed, with consensus being reached when >= 80% of the voting guideline committee members agreed. Recommendations and statements: The only recent guidelines available were for gastrointestinal and pancreatic management. These were reviewed and endorsed after confirming that no more recent relevant papers had been published. Literature searches were performed for additional questions and yielded a variable number of relevant papers depending on the subject addressed. Additional recommendations and statements were formulated. Conclusions: A decade on, the evidence base for recommendations remains poor, and collaborative studies are required to provide better data about this rare condition. Within these restrictions, multisystem, clinical management recommendations for PJS have been formulated.

Published
2021

7. Effect of Aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome

Author

Burn, John, Bishop, Timothy, Mecklin, Jukka-Pekka, Macrae, Finlay, Moslein, Gabriela, Olschwang, Sylvanie, Bisgaard, Marie-Luise, Ramesar, Raj, Eccles, Diana, Maher, Eamonn R., Bertario, Lucio, Jarvinen, Heikki J., Lindblom, Annika, Evans, Gareth, Lubinski, Jan, Morrison, Patrick J., Judy W.C., Vasen, Hans F.A., Side, Lucy, Thomas, Huw J.W., Scott, Rodney J., Dunlop, Malcolm, Barker, Gail, Elliott, Faye, Jass, Jeremy R., Fodde, Ricardo, Lynch, Henry T., and Mathers, John C.

Subjects
Aspirin -- Usage, Aspirin -- Health aspects, Colorectal cancer -- Diagnosis, Colorectal cancer -- Care and treatment
Abstract

The study aims to investigate the efficacy of Aspirin or resistant starch in treatment for Lynch syndrome or hereditary nonpolyposis colon cancer. The results indicate that neither Aspirin nor resistant starch is effective in Lynch syndrome.

Published
2008

8. Characteristics of Early-Onset vs Late-Onset Colorectal Cancer A Review

Author

Zaborowski, Alexandra M., Abdile, Ahmed, Adamina, Michel, Aigner, Felix, d'Allens, Laura, Allmer, Caterina, Alvarez, Andrea, Anula, Rocio, Andric, Mihailo, Atallah, Sam, Bach, Simon, Bala, Miklosh, Barussaud, Marie, Bausys, Augustinas, Bebington, Brendan, Beggs, Andrew, Bellolio, Felipe, Bennett, Melissa-Rose, Berdinskikh, Anton, Bevan, Vicki, Biondo, Sebastiano, Bislenghi, Gabriele, Bludau, Marc, Boutall, Adam, Brouwer, Nelleke, Brown, Carl, Bruns, Christiane, Buchanan, Daniel D., Buchwald, Pamela, Burger, Jacobus W. A., Burlov, Nikita, Campanelli, Michela, Capdepont, Maylis, Carvello, Michele, Chew, Hwee-Hoon, Christoforidis, Dimitri, Clark, David, Climent, Marta, Cologne, Kyle G., Contreras, Tomas, Croner, Roland, Daniels, Ian R., Dapri, Giovanni, Davies, Justin, Delrio, Paolo, Denost, Quentin, Deutsch, Michael, Dias, Andre, D'Hoore, Andre, Drozdov, Evgeniy, Duek, Daniel, Dunlop, Malcolm, Dziki, Adam, Edmundson, Aleksandra, Efetov, Sergey, El-Hussuna, Alaa, Elliot, Brodie, Emile, Sameh, Espin, Eloy, Evans, Martyn, Faes, Seraina, Faiz, Omar, Fleming, Fergal, Foppa, Caterina, Fowler, George, Frasson, Matteo, Figueiredo, Nuno, Forgan, Tim, Frizelle, Frank, Gadaev, Shamil, Gellona, Jose, Glyn, Tamara, Gong, Jianping, Goran, Barisic, Greenwood, Emma, Guren, Marianne G., Guillon, Stephanie, Gutlic, Ida, Hahnloser, Dieter, Hampel, Heather, Hanly, Ann, Hasegawa, Hirotoshi, Iversen, Lene Hjerrild, Hill, Andrew, Hill, James, Hoch, Jiri, Hoffmeister, Michael, Hompes, Roel, Hurtado, Luis, Iaquinandi, Fabiano, Imbrasaite, Ugne, Islam, Rumana, Jafari, Mehrenah Dorna, Kanemitsu, Yukihide, Karachun, Aleksei, Karimuddin, Ahmer A., Keller, Deborah S., Kelly, Justin, Kennelly, Rory, Khrykov, Gleb, Kocian, Peter, Koh, Cherry, Kok, Neils, Knight, Katrina A., Knol, Joep, Kontovounisios, Christos, Korner, Hartwig, Krivokapic, Zoran, Kronberger, Irmgard, Kroon, Hidde Maarten, Kryzauskas, Marius, Kural, Said, Kusters, Miranda, Lakkis, Zaher, Lankov, Timur, Larson, Dave, Lazar, Gyorgy, Lee, Kai-Yin, Lee, Suk Hwan, Lefevre, Jeremie H., Lepisto, Anna, Lieu, Christopher, Loi, Lynette, Lynch, Craig, Maillou-Martinaud, Helene, Maroli, Annalisa, Martin, Sean, Martling, Anna, Matzel, Klaus E., Mayol, Julio, McDermott, Frank, Meurette, Guillaume, Millan, Monica, Mitteregger, Martin, Moiseenko, Andrei, Monson, John R. T., Morarasu, Stefan, Moritani, Konosuke, Moslein, Gabriela, Munini, Martino, Nahas, Caio, Nahas, Sergio, Negoi, Ionut, Novikova, Anastasia, Ocares, Misael, Okabayashi, Koji, Olkina, Alexandra, Onate-Ocana, Luis, Otero, Jaime, Ozen, Cihan, Pace, Ugo, Juliao, Guilherme Pagin Sao, Panaiotti, Lidiia, Panis, Yves, Papamichael, Demetris, Park, Jason, Patel, Swati, Uriburu, Juan Carlos Patron, Pera, Miguel, Perez, Rodrigo O., Petrov, Alexei, Pfeffer, Frank, Phang, P. Terry, Poskus, Tomas, Pringle, Heather, Proud, David, Raguz, Ivana, Rama, Nuno, Rasheed, Shahnawaz, Raval, Manoj J., Rega, Daniela, Reissfelder, Christoph, Meneses, Juan Carlos Reyes, Ris, Frederic, Riss, Stefan, Rodriguez-Zentner, Homero, Roxburgh, Campbell S., Saklani, Avanish, Salido, Andrea Jimenez, Sammour, Tarik, Saraste, Deborah, Schneider, Martin, Seishima, Ryo, Sekulic, Aleksandar, Seppala, Toni, Sheahan, Kieran, Shine, Rebecca, Shlomina, Alexandra, Sica, Guiseppe S., Singnomklao, Tongplaew, Siragusa, Leandro, Smart, Neil, Solis, Alejandro, Spinelli, Antonino, Staiger, Roxane D., Stamos, Michael J., Steele, Scott, Sunderland, Michael, Tan, Ker-Kan, Tanis, Pieter J., Tekkis, Paris, Teklay, Biniam, Tengku, Sabrina, Jimenez-Toscano, Marta, Tsarkov, Petr, Turina, Matthias, Ulrich, Alexis, Vailati, Bruna B., van Harten, Meike, Verhoef, Cornelis, Warrier, Satish, Wexner, Steve, de Wilt, Hans, Weinberg, Benjamin A., Wells, Cameron, Wolthuis, Albert, Xynos, Evangelos, You, Nancy, Zakharenko, Alexander, Zeballos, Justino, Winter, Des C., Zaborowski, Alexandra M., Abdile, Ahmed, Adamina, Michel, Aigner, Felix, d'Allens, Laura, Allmer, Caterina, Alvarez, Andrea, Anula, Rocio, Andric, Mihailo, Atallah, Sam, Bach, Simon, Bala, Miklosh, Barussaud, Marie, Bausys, Augustinas, Bebington, Brendan, Beggs, Andrew, Bellolio, Felipe, Bennett, Melissa-Rose, Berdinskikh, Anton, Bevan, Vicki, Biondo, Sebastiano, Bislenghi, Gabriele, Bludau, Marc, Boutall, Adam, Brouwer, Nelleke, Brown, Carl, Bruns, Christiane, Buchanan, Daniel D., Buchwald, Pamela, Burger, Jacobus W. A., Burlov, Nikita, Campanelli, Michela, Capdepont, Maylis, Carvello, Michele, Chew, Hwee-Hoon, Christoforidis, Dimitri, Clark, David, Climent, Marta, Cologne, Kyle G., Contreras, Tomas, Croner, Roland, Daniels, Ian R., Dapri, Giovanni, Davies, Justin, Delrio, Paolo, Denost, Quentin, Deutsch, Michael, Dias, Andre, D'Hoore, Andre, Drozdov, Evgeniy, Duek, Daniel, Dunlop, Malcolm, Dziki, Adam, Edmundson, Aleksandra, Efetov, Sergey, El-Hussuna, Alaa, Elliot, Brodie, Emile, Sameh, Espin, Eloy, Evans, Martyn, Faes, Seraina, Faiz, Omar, Fleming, Fergal, Foppa, Caterina, Fowler, George, Frasson, Matteo, Figueiredo, Nuno, Forgan, Tim, Frizelle, Frank, Gadaev, Shamil, Gellona, Jose, Glyn, Tamara, Gong, Jianping, Goran, Barisic, Greenwood, Emma, Guren, Marianne G., Guillon, Stephanie, Gutlic, Ida, Hahnloser, Dieter, Hampel, Heather, Hanly, Ann, Hasegawa, Hirotoshi, Iversen, Lene Hjerrild, Hill, Andrew, Hill, James, Hoch, Jiri, Hoffmeister, Michael, Hompes, Roel, Hurtado, Luis, Iaquinandi, Fabiano, Imbrasaite, Ugne, Islam, Rumana, Jafari, Mehrenah Dorna, Kanemitsu, Yukihide, Karachun, Aleksei, Karimuddin, Ahmer A., Keller, Deborah S., Kelly, Justin, Kennelly, Rory, Khrykov, Gleb, Kocian, Peter, Koh, Cherry, Kok, Neils, Knight, Katrina A., Knol, Joep, Kontovounisios, Christos, Korner, Hartwig, Krivokapic, Zoran, Kronberger, Irmgard, Kroon, Hidde Maarten, Kryzauskas, Marius, Kural, Said, Kusters, Miranda, Lakkis, Zaher, Lankov, Timur, Larson, Dave, Lazar, Gyorgy, Lee, Kai-Yin, Lee, Suk Hwan, Lefevre, Jeremie H., Lepisto, Anna, Lieu, Christopher, Loi, Lynette, Lynch, Craig, Maillou-Martinaud, Helene, Maroli, Annalisa, Martin, Sean, Martling, Anna, Matzel, Klaus E., Mayol, Julio, McDermott, Frank, Meurette, Guillaume, Millan, Monica, Mitteregger, Martin, Moiseenko, Andrei, Monson, John R. T., Morarasu, Stefan, Moritani, Konosuke, Moslein, Gabriela, Munini, Martino, Nahas, Caio, Nahas, Sergio, Negoi, Ionut, Novikova, Anastasia, Ocares, Misael, Okabayashi, Koji, Olkina, Alexandra, Onate-Ocana, Luis, Otero, Jaime, Ozen, Cihan, Pace, Ugo, Juliao, Guilherme Pagin Sao, Panaiotti, Lidiia, Panis, Yves, Papamichael, Demetris, Park, Jason, Patel, Swati, Uriburu, Juan Carlos Patron, Pera, Miguel, Perez, Rodrigo O., Petrov, Alexei, Pfeffer, Frank, Phang, P. Terry, Poskus, Tomas, Pringle, Heather, Proud, David, Raguz, Ivana, Rama, Nuno, Rasheed, Shahnawaz, Raval, Manoj J., Rega, Daniela, Reissfelder, Christoph, Meneses, Juan Carlos Reyes, Ris, Frederic, Riss, Stefan, Rodriguez-Zentner, Homero, Roxburgh, Campbell S., Saklani, Avanish, Salido, Andrea Jimenez, Sammour, Tarik, Saraste, Deborah, Schneider, Martin, Seishima, Ryo, Sekulic, Aleksandar, Seppala, Toni, Sheahan, Kieran, Shine, Rebecca, Shlomina, Alexandra, Sica, Guiseppe S., Singnomklao, Tongplaew, Siragusa, Leandro, Smart, Neil, Solis, Alejandro, Spinelli, Antonino, Staiger, Roxane D., Stamos, Michael J., Steele, Scott, Sunderland, Michael, Tan, Ker-Kan, Tanis, Pieter J., Tekkis, Paris, Teklay, Biniam, Tengku, Sabrina, Jimenez-Toscano, Marta, Tsarkov, Petr, Turina, Matthias, Ulrich, Alexis, Vailati, Bruna B., van Harten, Meike, Verhoef, Cornelis, Warrier, Satish, Wexner, Steve, de Wilt, Hans, Weinberg, Benjamin A., Wells, Cameron, Wolthuis, Albert, Xynos, Evangelos, You, Nancy, Zakharenko, Alexander, Zeballos, Justino, and Winter, Des C.

Abstract

IMPORTANCE The incidence of early-onset colorectal cancer (younger than 50 years) is rising globally, the reasons for which are unclear. It appears to represent a unique disease process with different clinical, pathological, and molecular characteristics compared with late-onset colorectal cancer. Data on oncological outcomes are limited, and sensitivity to conventional neoadjuvant and adjuvant therapy regimens appear to be unknown. The purpose of this review is to summarize the available literature on early-onset colorectal cancer. OBSERVATIONS Within the next decade, it is estimated that 1 in 10 colon cancers and 1 in 4 rectal cancers will be diagnosed in adults younger than 50 years. Potential risk factors include aWesternized diet, obesity, antibiotic usage, and alterations in the gut microbiome. Although genetic predisposition plays a role, most cases are sporadic. The full spectrum of germline and somatic sequence variations implicated remains unknown. Younger patients typically present with descending colonic or rectal cancer, advanced disease stage, and unfavorable histopathological features. Despite being more likely to receive neoadjuvant and adjuvant therapy, patients with early-onset disease demonstrate comparable oncological outcomes with their older counterparts. CONCLUSIONS AND RELEVANCE The clinicopathological features, underlying molecular profiles, and drivers of early-onset colorectal cancer differ from those of late-onset disease. Standardized, age-specific preventive, screening, diagnostic, and therapeutic strategies are required to optimize outcomes.

Published
2021

9. No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

Author

Dominguez-Valentin, Mev, Plazzer, John-Paul, Sampson, Julian R., Engel, Christoph, Aretz, Stefan, Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Capella, Gabriel, Balaguer, Francesc, Macrae, Finlay, Winship, Ingrid M., Thomas, Huw, Evans, Dafydd Gareth, Burn, John, Greenblatt, Marc, Cappel, Wouter H. de Vos Tot Nederveen, Sijmons, Rolf H., Nielsen, Maartje, Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Della Valle, Adriana, Lopez-Kostner, Francisco, Alvarez, Karin, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Nakken, Sigve, Hovig, Eivind, Green, Kate, Lalloo, Fiona, Hill, James, Vasen, Hans F. A., Perne, Claudia, Buettner, Reinhard, Goergens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hueneburg, Robert, Doeberitz, Magnus von Knebel, Loeffler, Markus, Rahner, Nils, Weitz, Juergen, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Crosbie, Emma J., Pineda, Marta, Navarro, Matilde, Brunet, Joan, Moreira, Leticia, Sanchez, Ariadna, Serra-Burriel, Miquel, Mints, Miriam, Kariv, Revital, Rosner, Guy, Pinero, Tamara Alejandra, Pavicic, Walter Hernan, Kalfayan, Pablo, ten Broeke, Sanne W., Mecklin, Jukka-Pekka, Pylvanainen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomaki, Paivi, Hopper, John L., Win, Aung Ko, Buchanan, Daniel D., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loic, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Hansen, Thomas V. O., Lindberg, Lars, Rodland, Einar Andreas, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Moslein, Gabriela, Seppala, Toni T., Moller, Pal, Dominguez-Valentin, Mev, Plazzer, John-Paul, Sampson, Julian R., Engel, Christoph, Aretz, Stefan, Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Capella, Gabriel, Balaguer, Francesc, Macrae, Finlay, Winship, Ingrid M., Thomas, Huw, Evans, Dafydd Gareth, Burn, John, Greenblatt, Marc, Cappel, Wouter H. de Vos Tot Nederveen, Sijmons, Rolf H., Nielsen, Maartje, Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Della Valle, Adriana, Lopez-Kostner, Francisco, Alvarez, Karin, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Nakken, Sigve, Hovig, Eivind, Green, Kate, Lalloo, Fiona, Hill, James, Vasen, Hans F. A., Perne, Claudia, Buettner, Reinhard, Goergens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hueneburg, Robert, Doeberitz, Magnus von Knebel, Loeffler, Markus, Rahner, Nils, Weitz, Juergen, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Crosbie, Emma J., Pineda, Marta, Navarro, Matilde, Brunet, Joan, Moreira, Leticia, Sanchez, Ariadna, Serra-Burriel, Miquel, Mints, Miriam, Kariv, Revital, Rosner, Guy, Pinero, Tamara Alejandra, Pavicic, Walter Hernan, Kalfayan, Pablo, ten Broeke, Sanne W., Mecklin, Jukka-Pekka, Pylvanainen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomaki, Paivi, Hopper, John L., Win, Aung Ko, Buchanan, Daniel D., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loic, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Hansen, Thomas V. O., Lindberg, Lars, Rodland, Einar Andreas, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Moslein, Gabriela, Seppala, Toni T., and Moller, Pal

Abstract

Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the MLH1 and MSH2 genes. Methods. Carriers of pathogenic variants of MLH1 (path_MLH1) and MSH2 (path_MSH2) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of path MLH1 and path_MSH2.

Published
2021

10. The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. (Report)

Author

Meijers-Heijboer, Hanne, Wijnen, Juul, Vasen, Hans, Wasielewski, Marijke, Wagner, Anja, Hollestelle, Antoinette, Elstrodt, Fons, van den Bos, Renate, de Snoo, Anja, Fat, Grace Tjon A, Brekelmans, Cecile, Jagmohan, Shantie, Franken, Patrick, Verkuijlen, Paul, van den Ouweland, Ans, Chapman, Pamela, Tops, Carli, Moslein, Gabriela, Burn, John, Lynch, Henry, Klijn, Jan, Fodde, Riccardo, and Schutte, Mieke

Subjects
Breast cancer -- Genetic aspects, Human genetics -- Research, Brewer's yeast -- Genetic aspects, Biological sciences
Published
2003

11. Predictive Factors and Risk Model for Positive Circumferential Resection Margin Rate after Transanal Total Mesorectal Excision in 2653 Patients with Rectal Cancer

Author

S X, Roodbeen, F B, Lacy, S, Dieren, M, Penna, F, Ris, B, Moran, P, Tekkis, W A, Bemelman, R, Hompes, Adamina, Michel, Aigner, Felix, Al Furajii, Hazar, Albers, Benjamin, S Allison, Andrew, Arezzo, Alberto, J Arnold, Steven, Aryal, Kamal, Atallah, Sam, Austin, Ralph, Khurrum Baig, Mirza, Baloyiannis, Ioannis, Bandyopadhyay, Dibyendu, Banerjee, Saswata, Banky, Balazs, Baral, Joerg, Belgers, Eric, Bell, Stephen, Berti, Stefano, Biebl, Matthias, Bloemendaal, Bobby, Boni, Luigi, Bordeianou, Liliana, Borreca, Dario, I Bosker, Robbert J., Box, Benjamin, Boyce, Stephen, Bravo, Raquel, Den Broeck, Sylvie, Brown, Carl, Bruegger, Lukas, Brunner, Walter, Buchli, Christian, C Buchs, Nicolas, Buia, Alexander, Burt, Caroline, Cahill, Ronan, Pablo Campana, Juan, Campbell, Kenneth, Di Candido, Francesca, T Capolupo, Gabriella, Caricato, Marco, Caro-Tarrago, Aleidis, Cassinotti, Elisa, Caycedo, Antonio, Chandrasinghe, Pramodh, Chaudhri, Sanjay, Chernyshov, Stanislav, Chitsabesan, Praminthra, Christoforidis, Dimitri, A Clark, David, Coget, Julien, D Courtney, Edward, Cunningham, Chris, D’hooge, Pieter, D’hoore, Andre, Dagbert, Francois, J Dalton, Stephen, Dapri, Giovanni, Dawson, Robin, Dayal, Sanjeev, Delgado, Salvadora, Delrio, Paolo, Doerner, Johannes, Doornebosch, Pascal, Duff, Sarah, Erkinovich Dzhumabaev, Khasan, Edwards, Tom, Egenvall, Monika, Ravn Eriksen, Jens, Espin, Eloy, Estevez-Schwarz, Lope, Faes, Seraina, Fearden, Arne, Feleppa, Cosimo, Forgan, Tim, Forsmo, Havard, K Francis, Nader, Frontali, Alice, Fu, Cherylin, Gamage, Bawantha, Ignacio Rodriguez Garcia, Jose, Geissmann, Daniel, Geluwe, Bart, Gill, Kathryn, Glockler, Markus, Gloor, Severin, Javier Gomez, Carlos, Graaf, Eelco, Grolich, Tomas, Guido, Jutten, Hahnloser, Dieter, Hance, Julian, Harikrishnan, Athur, Haunold, Ingrid, Hayes, Julian, Hendrickx, Tom, Heriot, Alexander, Hoffmann, Theo-Julian, Hongwei, Yao, Huang, Joe, James, Horwood, Ial, Roshan, Ito, Masaaki, Janssens, Marc, Joy, Howard, Pagin Sao Juliao, Guilherme, Karimuddin, Ahmer, Katory, Mark, Killeen, Shane, Werner Kneist, Knol, Joep, Komen, Niels, Kukreja, Neil, Kusters, Miranda, Lacy, Antonio, Lakatos, Lorand, Lambrechts, Anton, Alvarez Laso, Carlos, Leao, Pedro, Lezoche, Emanuele, A Liberman, Sender, Lidder, Paul, Andrade Lima, Meylina, Lorenzon, Laura, Mackey, Paul, Maggiori, Leon, Zaur Mamedli, Zaman, Mansfield, Steve, Marcoen, Steven, Marcy, Tobias, Maroon, Tohmeh, Marta Pascual, Damieta, Marti, Lukas, Maslekar, Sushil, Mccallum, Iain, Mccarthy, Kathryn, Ramon Silveira Mendes, Carlos, Merrie, Arend, Michalopoulos, Antonios, Mikalauskas, Saulius, F Miles, Anthony W., C Mills, Sarah, Miroshnychenko, Yevgen, Mittermair, Christof, Molloy, Richard, Montroni, Isacco, Moore, Etienne, Moore, Tim, Mooslechner, Barbara, Morino, Mario, Moslein, Gabriela, Muratore, Andrea, Metodiev Mutafchiyski, Ventsislav, Myers, Alistair, Nicol, Deborah, Nieuwenhove, Yves, Nishizaki, Daisuke, John Nolan, Gregory, Ochsner, Alex, Hwan Oh, Jae, Collera Ormazabal, Pablo, Otero, Ana, Ouro, Susana, Panis, Yves, Papavramidis, Theodosios, Papen, Michael, Paraoan, Marius, Pastor, Carlos, Pastor, Enrique, Penchev, Dimitar, Pera, Miguel, Karim Perdawood, Sharaf, Oliva Perez, Rodrigo, Persiani, Roberto, Pfeffer, Frank, Terry Phang, P., Pichetto, Andrea, Pirenne, Yves, Pockney, Peter, Pooter, Karl, Poskus, Eligijus, Pros, Imma, Rajendran, Nirooshun, J Raval, Manoj, Rega, Daniela, Ricciardi, Rocco, Riel, Wouter, Ris, Frederic, Riss, Stefan, Alexander Rockall, Timothy, Romagnolo, Luis, Manuel Romero-Marcos, Juan, Roquete, Paulo, Rossi, Gustavo, Gomez Ruiz, Marcos, Rybakov, Evgeny, Sakai, Yoshiharu, Scala, Andrea, Millan Scheiding, Monica, Monica Millan, Gerald, Seva-Pereira, Gustavo, Sguinzi, Raffaella, A Shaikh, Irshad, Shalaby, Mostafa, Sharma, Abhiram, Sietses, Colin, Sileri, Pierpaolo, Simo, Vicente, Singh, Baljit, Slesser, Alistair, Kyung Sohn, Dae, Sosef, Meindert, Soravia, Claudio, Speakman, Christopher, Spinelli, Antonino, Sprundel, Frank, Steenkiste, Franky, L Stevenson, Andrew R., Stift, Anton, Storms, P., Studer, Peter, Konraad Talsma, Aaldert, J Tanis, Pieter, Tejedor, Patricia, La Terra, Antonio, Torkington, Jared, Jimenez Toscano, Marta, Tschann, Peter, Tuech, Jean-Jacques, Tuynman, Jurriaan, Tzovaras, George, Ugolini, Giampaolo, Vallribera, Francesc, Vanrykel, Filip, Vorburger, Stephan, Warner, Michael, J Warren, Oliver, Warrier, Satish, Warusavitarne, Janindra, Wegstapel, Henk, Weiss, Helmut, Witzig, Jacques-Alain, Wolff, Torsten, Wolthuis, Albert, Wu, Linus, Wynn, Greg, Zhongtao, Zhang, Zingg, Urs, Ziyaie, Dorin, Graduate School, AGEM - Digestive immunity, AGEM - Re-generation and cancer of the digestive system, CCA - Cancer Treatment and Quality of Life, Surgery, APH - Methodology, and International TaTME Registry Collaborative

Subjects
Male, Colorectal cancer, registry, circumferential resection margin, rectal cancer, risk factors, transanal total mesorectal excision, Adenocarcinoma, Aged, Cohort Studies, Disease-Free Survival, Endoscopic Mucosal Resection, Female, Follow-Up Studies, Humans, Length of Stay, Logistic Models, Middle Aged, Multivariate Analysis, Operative Time, Predictive Value of Tests, Proctectomy, Prognosis, Prospective Studies, Rectal Neoplasms, Registries, Risk Assessment, Survival Analysis, Transanal Endoscopic Surgery, Treatment Outcome, Margins of Excision, 0302 clinical medicine, Prospective cohort study, ddc:617, integumentary system, Incidence (epidemiology), food and beverages, Total mesorectal excision, 030220 oncology & carcinogenesis, Predictive value of tests, embryonic structures, 030211 gastroenterology & hepatology, Risk assessment, Cohort study, medicine.medical_specialty, animal structures, 03 medical and health sciences, medicine, Survival analysis, business.industry, fungi, medicine.disease, Surgery, Human medicine, business
Abstract

Objective: The aim of this study was to determine the incidence of, and preoperative risk factors for, positive circumferential resection margin (CRM) after transanal total mesorectal excision (TaTME). Background: TaTME has the potential to further reduce the rate of positive CRM for patients with low rectal cancer, thereby improving oncological outcome. Methods: A prospective registry-based study including all cases recorded on the international TaTME registry between July 2014 and January 2018 was performed. Endpoints were the incidence of, and predictive factors for, positive CRM. Univariate and multivariate logistic regressions were performed, and factors for positive CRM were then assessed by formulating a predictive model. Results: In total, 2653 patients undergoing TaTME for rectal cancer were included. The incidence of positive CRM was 107 (4.0%). In multivariate logistic regression analysis, a positive CRM after TaTME was significantly associated with tumors located up to 1 cm from the anorectal junction, anterior tumors, cT4 tumors, extra-mural venous invasion (EMVI), and threatened or involved CRM on baseline MRI (odds ratios 2.09, 1.66, 1.93, 1.94, and 1.72, respectively). The predictive model showed adequate discrimination (area under the receiver-operating characteristic curve >0.70), and predicted a 28% risk of positive CRM if all risk factors were present. Conclusion: Five preoperative tumor-related characteristics had an adverse effect on CRM involvement after TaTME. The predicted risk of positive CRM after TaTME for a specific patient can be calculated preoperatively with the proposed model and may help guide patient selection for optimal treatment and enhance a tailored treatment approach to further optimize oncological outcomes.

Published
2019

13. High frequency of microsatellite instability and loss of mismatch-repair protein expression in patients with double primary tumors of the endometrium and colorectum

Author

Planck, Maria, Rambech, Eva, Moslein, Gabriela, Muller, Wolfram, Olsson, Hakan, and Nilbert, Mef

Subjects
Medical research -- Analysis, Cancer -- Research, Proteins -- Genetic aspects, Gene expression -- Physiological aspects, Tumors -- Genetic aspects, Endometrium -- Genetic aspects, Colorectal cancer -- Genetic aspects, Health
Published
2002

14. Predictive Factors and Risk Model for Positive Circumferential Resection Margin Rate After Transanal Total Mesorectal Excision in 2653 Patients With Rectal Cancer

Author

Sapho X, Roodbeen, F B, de Lacy, Susan, van Dieren, Marta, Penna, Frédéric, Ri, Brendan, Moran, Paris, Tekki, Willem A, Bemelman, Roel, Hompe, Adamina, Michel, Aigner, Felix, Al Furajii, Hazar, Albers, Benjamin, S Allison, Andrew, Arezzo, Alberto, J Arnold, Steven, Aryal, Kamal, Atallah, Sam, Austin, Ralph, Khurrum Baig, Mirza, Baloyiannis, Ioanni, Bandyopadhyay, Dibyendu, Banerjee, Saswata, Banky, Balaz, Baral, Joerg, Belgers, Eric, Bell, Stephen, Berti, Stefano, Biebl, Matthia, Bloemendaal, Bobby, Boni, Luigi, Bordeianou, Liliana, Borreca, Dario, I Bosker, Robbert J, Box, Benjamin, Boyce, Stephen, Bravo, Raquel, van den Broeck, Sylvie, Brown, Carl, Bruegger, Luka, Brunner, Walter, Buchli, Christian, C Buchs, Nicola, Buia, Alexander, Burt, Caroline, Cahill, Ronan, Pablo Campana, Juan, Campbell, Kenneth, Di Candido, Francesca, T Capolupo, Gabriella, Caricato, Marco, Caro-Tarrago, Aleidi, Cassinotti, Elisa, Caycedo, Antonio, Chandrasinghe, Pramodh, Chaudhri, Sanjay, Chernyshov, Stanislav, Chitsabesan, Praminthra, Christoforidis, Dimitri, A Clark, David, Coget, Julien, D Courtney, Edward, Cunningham, Chri, D’Hooge, Pieter, D’Hoore, Andre, Dagbert, Francoi, J Dalton, Stephen, Dapri, Giovanni, Dawson, Robin, Dayal, Sanjeev, Delgado, Salvadora, Delrio, Paolo, Doerner, Johanne, Doornebosch, Pascal, Duff, Sarah, Erkinovich Dzhumabaev, Khasan, Edwards, Tom, Egenvall, Monika, Ravn Eriksen, Jen, Espin, Eloy, Estevez-Schwarz, Lope, Faes, Seraina, Fearden, Arne, Feleppa, Cosimo, Forgan, Tim, Forsmo, Havard, K Francis, Nader, Frontali, Alice, Fu, Cherylin, Gamage, Bawantha, Ignacio Rodriguez Garcia, Jose, Geissmann, Daniel, van Geluwe, Bart, Gill, Kathryn, Glockler, Marku, Gloor, Severin, Javier Gomez, Carlo, de Graaf, Eelco, Grolich, Toma, Guido, Jutten, Hahnloser, Dieter, Hance, Julian, Harikrishnan, Athur, Haunold, Ingrid, Hayes, Julian, Hendrickx, Tom, Heriot, Alexander, Hoffmann, Theo-Julian, Hongwei, Yao, Huang, Joe, James, Horwood, Ial, Roshan, Ito, Masaaki, Janssens, Marc, Joy, Howard, Pagin Sao Juliao, Guilherme, Karimuddin, Ahmer, Katory, Mark, Killeen, Shane, Kneist, Werner, Knol, Joep, Komen, Niel, Kukreja, Neil, Kusters, Miranda, de Lacy, Antonio, Lakatos, Lorand, Lambrechts, Anton, Alvarez Laso, Carlo, Leao, Pedro, Lezoche, Emanuele, A Liberman, Sender, Lidder, Paul, Andrade Lima, Meylina, Lorenzon, Laura, Mackey, Paul, Maggiori, Leon, Zaur Mamedli, Zaman, Mansfield, Steve, Marcoen, Steven, Marcy, Tobia, Maroon, Tohmeh, Marta Pascual, Damieta, Marti, Luka, Maslekar, Sushil, Mccallum, Iain, Mccarthy, Kathryn, Ramon Silveira Mendes, Carlo, Merrie, Arend, Michalopoulos, Antonio, Mikalauskas, Sauliu, F Miles, Anthony W, C Mills, Sarah, Miroshnychenko, Yevgen, Mittermair, Christof, Molloy, Richard, Montroni, Isacco, Moore, Etienne, Moore, Tim, Mooslechner, Barbara, Morino, Mario, Moslein, Gabriela, Muratore, Andrea, Metodiev Mutafchiyski, Ventsislav, Myers, Alistair, Nicol, Deborah, van Nieuwenhove, Yve, Nishizaki, Daisuke, John Nolan, Gregory, Ochsner, Alex, Hwan Oh, Jae, Collera Ormazabal, Pablo, Otero, Ana, Ouro, Susana, Panis, Yve, Papavramidis, Theodosio, von Papen, Michael, Paraoan, Mariu, Pastor, Carlo, Pastor, Enrique, Penchev, Dimitar, Pera, Miguel, Karim Perdawood, Sharaf, Oliva Perez, Rodrigo, Persiani, Roberto, Pfeffer, Frank, Terry Phang, P, Pichetto, Andrea, Pirenne, Yve, Pockney, Peter, de Pooter, Karl, Poskus, Eligiju, Pros, Imma, Rajendran, Nirooshun, J Raval, Manoj, Rega, Daniela, Ricciardi, Rocco, van Riel, Wouter, Ris, Frederic, Riss, Stefan, Alexander Rockall, Timothy, Romagnolo, Lui, Manuel Romero-Marcos, Juan, Roquete, Paulo, Rossi, Gustavo, Gomez Ruiz, Marco, Rybakov, Evgeny, Sakai, Yoshiharu, Scala, Andrea, Millan Scheiding, Monica, Monica Millan, Gerald, Seva-Pereira, Gustavo, Sguinzi, Raffaella, A Shaikh, Irshad, Shalaby, Mostafa, Sharma, Abhiram, Sietses, Colin, Sileri, Pierpaolo, Simo, Vicente, Singh, Baljit, Slesser, Alistair, Kyung Sohn, Dae, Sosef, Meindert, Soravia, Claudio, Speakman, Christopher, Spinelli, Antonino, van Sprundel, Frank, van Steenkiste, Franky, L Stevenson, Andrew R, Stift, Anton, Storms, P, Studer, Peter, Konraad Talsma, Aaldert, J Tanis, Pieter, Tejedor, Patricia, la Terra, Antonio, Torkington, Jared, Jimenez Toscano, Marta, Tschann, Peter, Tuech, Jean-Jacque, Tuynman, Jurriaan, Tzovaras, George, Ugolini, Giampaolo, Vallribera, Francesc, Vanrykel, Filip, Vorburger, Stephan, Warner, Michael, J Warren, Oliver, Warrier, Satish, Warusavitarne, Janindra, Wegstapel, Henk, Weiss, Helmut, Witzig, Jacques-Alain, Wolff, Torsten, Wolthuis, Albert, Wu, Linu, Wynn, Greg, Zhongtao, Zhang, Zingg, Ur, Ziyaie, Dorin, Laura Lorenzon (ORCID:0000-0001-6736-0383), Roberto Persiani (ORCID:0000-0002-1537-5097), Sapho X, Roodbeen, F B, de Lacy, Susan, van Dieren, Marta, Penna, Frédéric, Ri, Brendan, Moran, Paris, Tekki, Willem A, Bemelman, Roel, Hompe, Adamina, Michel, Aigner, Felix, Al Furajii, Hazar, Albers, Benjamin, S Allison, Andrew, Arezzo, Alberto, J Arnold, Steven, Aryal, Kamal, Atallah, Sam, Austin, Ralph, Khurrum Baig, Mirza, Baloyiannis, Ioanni, Bandyopadhyay, Dibyendu, Banerjee, Saswata, Banky, Balaz, Baral, Joerg, Belgers, Eric, Bell, Stephen, Berti, Stefano, Biebl, Matthia, Bloemendaal, Bobby, Boni, Luigi, Bordeianou, Liliana, Borreca, Dario, I Bosker, Robbert J, Box, Benjamin, Boyce, Stephen, Bravo, Raquel, van den Broeck, Sylvie, Brown, Carl, Bruegger, Luka, Brunner, Walter, Buchli, Christian, C Buchs, Nicola, Buia, Alexander, Burt, Caroline, Cahill, Ronan, Pablo Campana, Juan, Campbell, Kenneth, Di Candido, Francesca, T Capolupo, Gabriella, Caricato, Marco, Caro-Tarrago, Aleidi, Cassinotti, Elisa, Caycedo, Antonio, Chandrasinghe, Pramodh, Chaudhri, Sanjay, Chernyshov, Stanislav, Chitsabesan, Praminthra, Christoforidis, Dimitri, A Clark, David, Coget, Julien, D Courtney, Edward, Cunningham, Chri, D’Hooge, Pieter, D’Hoore, Andre, Dagbert, Francoi, J Dalton, Stephen, Dapri, Giovanni, Dawson, Robin, Dayal, Sanjeev, Delgado, Salvadora, Delrio, Paolo, Doerner, Johanne, Doornebosch, Pascal, Duff, Sarah, Erkinovich Dzhumabaev, Khasan, Edwards, Tom, Egenvall, Monika, Ravn Eriksen, Jen, Espin, Eloy, Estevez-Schwarz, Lope, Faes, Seraina, Fearden, Arne, Feleppa, Cosimo, Forgan, Tim, Forsmo, Havard, K Francis, Nader, Frontali, Alice, Fu, Cherylin, Gamage, Bawantha, Ignacio Rodriguez Garcia, Jose, Geissmann, Daniel, van Geluwe, Bart, Gill, Kathryn, Glockler, Marku, Gloor, Severin, Javier Gomez, Carlo, de Graaf, Eelco, Grolich, Toma, Guido, Jutten, Hahnloser, Dieter, Hance, Julian, Harikrishnan, Athur, Haunold, Ingrid, Hayes, Julian, Hendrickx, Tom, Heriot, Alexander, Hoffmann, Theo-Julian, Hongwei, Yao, Huang, Joe, James, Horwood, Ial, Roshan, Ito, Masaaki, Janssens, Marc, Joy, Howard, Pagin Sao Juliao, Guilherme, Karimuddin, Ahmer, Katory, Mark, Killeen, Shane, Kneist, Werner, Knol, Joep, Komen, Niel, Kukreja, Neil, Kusters, Miranda, de Lacy, Antonio, Lakatos, Lorand, Lambrechts, Anton, Alvarez Laso, Carlo, Leao, Pedro, Lezoche, Emanuele, A Liberman, Sender, Lidder, Paul, Andrade Lima, Meylina, Lorenzon, Laura, Mackey, Paul, Maggiori, Leon, Zaur Mamedli, Zaman, Mansfield, Steve, Marcoen, Steven, Marcy, Tobia, Maroon, Tohmeh, Marta Pascual, Damieta, Marti, Luka, Maslekar, Sushil, Mccallum, Iain, Mccarthy, Kathryn, Ramon Silveira Mendes, Carlo, Merrie, Arend, Michalopoulos, Antonio, Mikalauskas, Sauliu, F Miles, Anthony W, C Mills, Sarah, Miroshnychenko, Yevgen, Mittermair, Christof, Molloy, Richard, Montroni, Isacco, Moore, Etienne, Moore, Tim, Mooslechner, Barbara, Morino, Mario, Moslein, Gabriela, Muratore, Andrea, Metodiev Mutafchiyski, Ventsislav, Myers, Alistair, Nicol, Deborah, van Nieuwenhove, Yve, Nishizaki, Daisuke, John Nolan, Gregory, Ochsner, Alex, Hwan Oh, Jae, Collera Ormazabal, Pablo, Otero, Ana, Ouro, Susana, Panis, Yve, Papavramidis, Theodosio, von Papen, Michael, Paraoan, Mariu, Pastor, Carlo, Pastor, Enrique, Penchev, Dimitar, Pera, Miguel, Karim Perdawood, Sharaf, Oliva Perez, Rodrigo, Persiani, Roberto, Pfeffer, Frank, Terry Phang, P, Pichetto, Andrea, Pirenne, Yve, Pockney, Peter, de Pooter, Karl, Poskus, Eligiju, Pros, Imma, Rajendran, Nirooshun, J Raval, Manoj, Rega, Daniela, Ricciardi, Rocco, van Riel, Wouter, Ris, Frederic, Riss, Stefan, Alexander Rockall, Timothy, Romagnolo, Lui, Manuel Romero-Marcos, Juan, Roquete, Paulo, Rossi, Gustavo, Gomez Ruiz, Marco, Rybakov, Evgeny, Sakai, Yoshiharu, Scala, Andrea, Millan Scheiding, Monica, Monica Millan, Gerald, Seva-Pereira, Gustavo, Sguinzi, Raffaella, A Shaikh, Irshad, Shalaby, Mostafa, Sharma, Abhiram, Sietses, Colin, Sileri, Pierpaolo, Simo, Vicente, Singh, Baljit, Slesser, Alistair, Kyung Sohn, Dae, Sosef, Meindert, Soravia, Claudio, Speakman, Christopher, Spinelli, Antonino, van Sprundel, Frank, van Steenkiste, Franky, L Stevenson, Andrew R, Stift, Anton, Storms, P, Studer, Peter, Konraad Talsma, Aaldert, J Tanis, Pieter, Tejedor, Patricia, la Terra, Antonio, Torkington, Jared, Jimenez Toscano, Marta, Tschann, Peter, Tuech, Jean-Jacque, Tuynman, Jurriaan, Tzovaras, George, Ugolini, Giampaolo, Vallribera, Francesc, Vanrykel, Filip, Vorburger, Stephan, Warner, Michael, J Warren, Oliver, Warrier, Satish, Warusavitarne, Janindra, Wegstapel, Henk, Weiss, Helmut, Witzig, Jacques-Alain, Wolff, Torsten, Wolthuis, Albert, Wu, Linu, Wynn, Greg, Zhongtao, Zhang, Zingg, Ur, Ziyaie, Dorin, Laura Lorenzon (ORCID:0000-0001-6736-0383), and Roberto Persiani (ORCID:0000-0002-1537-5097)

Abstract

Objective: The aim of this study was to determine the incidence of, and preoperative risk factors for, positive circumferential resection margin (CRM) after transanal total mesorectal excision (TaTME).Background: TaTME has the potential to further reduce the rate of positive CRM for patients with low rectal cancer, thereby improving oncological outcome.Methods: A prospective registry-based study including all cases recorded on the international TaTME registry between July 2014 and January 2018 was performed. Endpoints were the incidence of, and predictive factors for, positive CRM. Univariate and multivariate logistic regressions were performed, and factors for positive CRM were then assessed by formulating a predictive model.Results: In total, 2653 patients undergoing TaTME for rectal cancer were included. The incidence of positive CRM was 107 (4.0%). In multivariate logistic regression analysis, a positive CRM after TaTME was significantly associated with tumors located up to 1 cm from the anorectal junction, anterior tumors, cT4 tumors, extra-mural venous invasion (EMVI), and threatened or involved CRM on baseline MRI (odds ratios 2.09, 1.66, 1.93, 1.94, and 1.72, respectively). The predictive model showed adequate discrimination (area under the receiver-operating characteristic curve >0.70), and predicted a 28% risk of positive CRM if all risk factors were present.Conclusion: Five preoperative tumor-related characteristics had an adverse effect on CRM involvement after TaTME. The predicted risk of positive CRM after TaTME for a specific patient can be calculated preoperatively with the proposed model and may help guide patient selection for optimal treatment and enhance a tailored treatment approach to further optimize oncological outcomes.

Published
2019

16. Molecular Characterization of the Spectrum of Genomic Deletions in the Mismatch Repair Genes MSH2, MLH1, MSH6, and PMS2 Responsible for Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

Author

van der Klift, Heleen, Wijnen, Juul, Wagner, Anja, Verkuilen, Paul, Tops, Carli, Otway, R, Kohonen-Corish, M K, Vasen, Hans, Oliani, Cristina, Barana, Daniela, Moller, Pal, DeLozier-Blanchet, Celia, Hutter, Pierre, Foulkes, William, Lynch, Henry, Burn, John, Moslein, Gabriela, Fodde, Riccardo, van der Klift, Heleen, Wijnen, Juul, Wagner, Anja, Verkuilen, Paul, Tops, Carli, Otway, R, Kohonen-Corish, M K, Vasen, Hans, Oliani, Cristina, Barana, Daniela, Moller, Pal, DeLozier-Blanchet, Celia, Hutter, Pierre, Foulkes, William, Lynch, Henry, Burn, John, Moslein, Gabriela, and Fodde, Riccardo

Abstract

A systematic search by Southern blot analysis in a cohort of 439 hereditary nonpolyposis colorectal cancer (HNPCC) families for genomic rearrangements in the main mismatch repair (MMR) genes, namely, MSH2, MLH1, MSH6, and PMS2, identified 48 genomic rearrangements causative of this inherited predisposition to colorectal cancer in 68 unrelated kindreds. Twenty-nine of the 48 rearrangements were found in MSH2, 13 in MLH1, 2 in MSH6, and 4 in PMS2. The vast majority were deletions, although one previously described large inversion, an intronic insertion, and a more complex rearrangement also were found. Twenty-four deletion breakpoints have been identified and sequenced in order to determine the underlying recombination mechanisms. Most fall within repetitive sequences, mainly Alu repeats, in agreement with the differential distribution of deletions between the MSH2 and MLH1 genes: the higher number and density of Alu repeats in MSH2 corresponded with a higher incidence of genomic rearrangement at this disease locus when compared with other MMR genes. Long interspersed nuclear element (LINE) repeats, relatively abundant in, for example, MLH1, did not seem to contribute to the genesis of the deletions, presumably because of their older evolutionary age and divergence among individual repeat units when compared with short interspersed nuclear element (SINE) repeats, including Alu repeats. Moreover, Southern blot analysis of the introns and the genomic regions flanking the MMR genes allowed us to detect 6 novel genomic rearrangements that left the coding region of the disease-causing gene intact These rearrangements comprised 4 deletions upstream of the coding region of MSH2 (3 cases) and MSH6 (1 case), a 2-kb insertion in intron 7 of PMS2, and a small (459-bp) deletion in intron 13 of MLH1. The characterization of these genomic rearrangements underlines the importance of genomic deletions in the etiology of HNPCC and will facilitate the development of PCR-based tests for

Published
2005

17. Feasibility and Diagnostic Utility of Video Capsule Endoscopy for the Detection of Small Bowel Polyps in Patients with Hereditary Polyposis Syndromes

Author

Schulmann, Karsten, primary, Hollerbach, Stephan, additional, Kraus, Katja, additional, Willert, Jorg, additional, Vogel, Tilman, additional, Moslein, Gabriela, additional, Pox, Christian, additional, Reiser, Markus, additional, Reinacher-Schick, Anke, additional, and Schmiegel, Wolff, additional

Published
2005
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18. Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database

Author

Møller, Pål, Seppala, Toni, Bernstein, Inge, Holinski-Feder, Elke, Sala, Paola, Evans, D Gareth, Lindblom, Annika, Macrae, Finlay, Blanco, Ignacio, Sijmons, Rolf, Jeffries, Jacqueline, Vasen, Hans, Burn, John, Nakken, Sigve, Hovig, Eivind, Rødland, Einar Andreas, Tharmaratnam, Kukatharmini, de Vos tot Nederveen Cappel, Wouter H, Hill, James, Wijnen, Juul, Jenkins, Mark, Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Renkonen-Sinisalo, Laura, Frayling, Ian M, Plazzer, John-Paul, Pylvanainen, Kirsi, Genuardi, Maurizio, Mecklin, Jukka-Pekka, Moslein, Gabriela, Sampson, Julian R, and Capella, Gabriel

Abstract

ObjectiveToday most patients with Lynch syndrome (LS) survive their first cancer. There is limited information on the incidences and outcome of subsequent cancers. The present study addresses three questions: (i) what is the cumulative incidence of a subsequent cancer; (ii) in which organs do subsequent cancers occur; and (iii) what is the survival following these cancers?DesignInformation was collated on prospectively organised surveillance and prospectively observed outcomes in patients with LS who had cancer prior to inclusion and analysed by age, gender and genetic variants.Results1273 patients with LS from 10 countries were followed up for 7753 observation years. 318 patients (25.7%) developed 341 first subsequent cancers, including colorectal (n=147, 43%), upper GI, pancreas or bile duct (n=37, 11%) and urinary tract (n=32, 10%). The cumulative incidences for any subsequent cancer from age 40 to age 70 years were 73% for pathogenic MLH1(path_MLH1), 76% for path_MSH2carriers and 52% for path_MSH6carriers, and for colorectal cancer (CRC) the cumulative incidences were 46%, 48% and 23%, respectively. Crude survival after any subsequent cancer was 82% (95% CI 76% to 87%) and 10-year crude survival after CRC was 91% (95% CI 83% to 95%).ConclusionsRelative incidence of subsequent cancer compared with incidence of first cancer was slightly but insignificantly higher than cancer incidence in patients with LS without previous cancer (range 0.94–1.49). The favourable survival after subsequent cancers validated continued follow-up to prevent death from cancer. The interactive website http://lscarisk.orgwas expanded to calculate the risks by gender, genetic variant and age for subsequent cancer for any patient with LS with previous cancer.

Published
2017
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19. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

Author

Møller, Pål, Seppala, Toni, Bernstein, Inge, Holinski-Feder, Elke, Sala, Paola, Evans, D Gareth, Lindblom, Annika, Macrae, Finlay, Blanco, Ignacio, Sijmons, Rolf, Jeffries, Jacqueline, Vasen, Hans, Burn, John, Nakken, Sigve, Hovig, Eivind, Rødland, Einar Andreas, Tharmaratnam, Kukatharmini, de Vos tot Nederveen Cappel, Wouter H, Hill, James, Wijnen, Juul, Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Renkonen-Sinisalo, Laura, Frayling, Ian M, Plazzer, John-Paul, Pylvanainen, Kirsi, Sampson, Julian R, Capella, Gabriel, Mecklin, Jukka-Pekka, and Moslein, Gabriela

Abstract

ObjectiveEstimates of cancer risk and the effects of surveillance in Lynch syndrome have been subject to bias, partly through reliance on retrospective studies. We sought to establish more robust estimates in patients undergoing prospective cancer surveillance.DesignWe undertook a multicentre study of patients carrying Lynch syndrome-associated mutations affecting MLH1, MSH2, MSH6or PMS2. Standardised information on surveillance, cancers and outcomes were collated in an Oracle relational database and analysed by age, sex and mutated gene.Results1942 mutation carriers without previous cancer had follow-up including colonoscopic surveillance for 13 782 observation years. 314 patients developed cancer, mostly colorectal (n=151), endometrial (n=72) and ovarian (n=19). Cancers were detected from 25 years onwards in MLH1and MSH2mutation carriers, and from about 40 years in MSH6and PMS2carriers. Among first cancer detected in each patient the colorectal cancer cumulative incidences at 70 years by gene were 46%, 35%, 20% and 10% for MLH1, MSH2, MSH6and PMS2mutation carriers, respectively. The equivalent cumulative incidences for endometrial cancer were 34%, 51%, 49% and 24%; and for ovarian cancer 11%, 15%, 0% and 0%. Ten-year crude survival was 87% after any cancer, 91% if the first cancer was colorectal, 98% if endometrial and 89% if ovarian.ConclusionsThe four Lynch syndrome-associated genes had different penetrance and expression. Colorectal cancer occurred frequently despite colonoscopic surveillance but resulted in few deaths. Using our data, a website has been established at http://LScarisk.orgenabling calculation of cumulative cancer risks as an aid to genetic counselling in Lynch syndrome.

Published
2017
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21. Nuclear Pedigree Criteria of Suspected HNPCC

Author

Kładny Józef, Möslein Gabriela, Myrhøj Torben, Kurzawski Grzegorz, Jakubowska Anna, Dębniak Tadeusz, Petriczko Wojciech, Kozłowski Michał, Al-Amawi Tariq, Brzosko Marek, Fliciński Jacek, Jawień Arkadiusz, Banaszkiewicz Zbigniew, Rychter Piotr, and Lubiński Jan

Subjects
HNPCC, diagnosis, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470
Abstract

Abstract The criteria for the diagnosis of HNPCC established by the ICG-HNPCC are very restrictive as they do not allow for the diagnosis of a large number of "suspected HNPCC" cases - these are families which do no fulfill the strict diagnostic "Amsterdam criteria", but do present with several pedigree and clinical features characteristic for HNPCC. Several series of families suspected of harboring germline mutations in DNA mismatch repair genes have been studied for germline changes in DNA mismatch repair genes and a mutation rate of somewhere between 8-60% was found. Therefore a subgroup of members of the ICG-HNPCC has been working on pedigree/clinical diagnostic criteria for suspected HNPCC. Materials and methods Part I The study was based on two series of colorectal cancer (CRC) cases: 1) HNPCC - this group comprised 190 patients affected by CRC from randomly selected families which fulfilled the Amsterdam II criteria registered in Düsseldorf, Germany (102 cases of CRC), Denmark (18 CRCs), Leiden, Holland (23 CRCs) and Szczecin, Poland (47 CRCs). 2) Consecutive CRCs - this group comprised 629 (78.0%) of 806 individuals with CRC diagnosed in 1991-1997 in the city of Szczecin (ca. 400,000 of inhabitants), Poland. Nuclear pedigrees in both groups were compared for frequency of occurrence of clinical features, that have been shown to be associated with HNPCC. Part II 52 consecutive CRC cases from Szczecin, matching the criteria recognized in part I as appropriate for diagnosis of cases "suspected of HNPCC" were studied for the occurrence of germline hMSH2/hMLH1 constitutional mutations using "exon by exon" sequencing. Results The combination of features - i.e. the occurrence of an HNPCC associated cancer (CRC or cancer of the endometrium, small bowel or urinary tract) in a 1st degree relative of a CRC patient; at least one of the patients being diagnosed under age of 50 - appeared to be strongly associated to HNPCC with an OR - 161. Constitutional mutations were identified in 18 (10 MLH1 and 8 MSH2 mutations) of 52 (34%) cases matching the above features. Conclusions The results of our studies strongly suggest that it is possible to diagnose HNPCC with a high degree of accuracy on the basis of nuclear pedigree data and clinical features.

Published
2003
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