Gene panel testing for breast cancer should not be used to confirm syndromic gene associations

por Evans, D. Gareth, Howell, Sacha J., Frayling, Ian M., Peltonen, Juha
Publicado 2018

The NF1 somatic mutational landscape in sporadic human cancers

por Philpott, Charlotte, Tovell, Hannah, Frayling, Ian M., Cooper, David N., Upadhyaya, Meena
Publicado 2017

A systematic review of test accuracy studies evaluating molecular micro-satellite instability testing for the detection of individuals with lynch syndrome

por Coelho, Helen, Jones-Hughes, Tracey, Snowsill, Tristan, Briscoe, Simon, Huxley, Nicola, Frayling, Ian M., Hyde, Chris
Publicado 2017

Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group

por Taylor, Amy, Brady, Angela F, Frayling, Ian M, Hanson, Helen, Tischkowitz, Marc, Turnbull, Clare, Side, Lucy
Publicado 2018

Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk

por Valle, Laura, Katz, Lior H, Latchford, Andrew, Mur, Pilar, Moreno, Victor, Frayling, Ian M, Heald, Brandie, Capellá, Gabriel
Publicado 2023

Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting

por Snowsill, Tristan M., Ryan, Neil A. J., Crosbie, Emma J., Frayling, Ian M., Evans, D. Gareth, Hyde, Chris J.
Publicado 2019

High endothelial venules are associated with microsatellite instability, hereditary background and immune evasion in colorectal cancer

por Pfuderer, Pauline L., Ballhausen, Alexej, Seidler, Florian, Stark, Hans-Jürgen, Grabe, Niels, Frayling, Ian M., Ager, Ann, von Knebel Doeberitz, Magnus, Kloor, Matthias, Ahadova, Aysel
Publicado 2019

Unusual presentation of Lynch Syndrome

por Yu, Veronica PCC, Novelli, Marco, Payne, Stewart J, Fisher, Sam, Barnetson, Rebecca A, Frayling, Ian M, Barrett, Ann, Goudie, David, Ardern-Jones, Audrey, Eeles, Ros, Shanley, Susan
Publicado 2009

The predicted impact and cost‐effectiveness of systematic testing of people with incident colorectal cancer for Lynch syndrome

por Kang, Yoon‐Jung, Killen, James, Caruana, Michael, Simms, Kate, Taylor, Natalie, Frayling, Ian M, Snowsill, Tristan, Huxley, Nicola, Coupe, Veerle MH, Hughes, Suzanne, Freeman, Victoria, Boussioutas, Alex, Trainer, Alison H, Ward, Robyn L, Mitchell, Gillian, Macrae, Finlay A, Canfell, Karen
Publicado 2019

The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study

por Ryan, Neil A. J., McMahon, Raymond, Tobi, Simon, Snowsill, Tristan, Esquibel, Shona, Wallace, Andrew J., Bunstone, Sancha, Bowers, Naomi, Mosneag, Ioana E., Kitson, Sarah J., O’Flynn, Helena, Ramchander, Neal C., Sivalingam, Vanitha N., Frayling, Ian M., Bolton, James, McVey, Rhona J., Evans, D. Gareth, Crosbie, Emma J.
Publicado 2020

The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome

por Crosbie, Emma J., Ryan, Neil A. J., Arends, Mark J., Bosse, Tjalling, Burn, John, Cornes, Joanna M., Crawford, Robin, Eccles, Diana, Frayling, Ian M., Ghaem-Maghami, Sadaf, Hampel, Heather, Kauff, Noah D., Kitchener, Henry C., Kitson, Sarah J., Manchanda, Ranjit, McMahon, Raymond F. T., Monahan, Kevin J., Menon, Usha, Møller, Pål, Möslein, Gabriela, Rosenthal, Adam, Sasieni, Peter, Seif, Mourad W., Singh, Naveena, Skarrott, Pauline, Snowsill, Tristan M., Steele, Robert, Tischkowitz, Marc, Evans, D. Gareth
Publicado 2019

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

por Møller, Pål, Seppälä, 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, Möslein, Gabriela
Publicado 2017

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

por Vasen, Hans F A, Blanco, Ignacio, Aktan-Collan, Katja, Gopie, Jessica P, Alonso, Angel, Aretz, Stefan, Bernstein, Inge, Bertario, Lucio, Burn, John, Capella, Gabriel, Colas, Chrystelle, Engel, Christoph, Frayling, Ian M, Genuardi, Maurizio, Heinimann, Karl, Hes, Frederik J, Hodgson, Shirley V, Karagiannis, John A, Lalloo, Fiona, Lindblom, Annika, Mecklin, Jukka-Pekka, Møller, Pal, Myrhoj, Torben, Nagengast, Fokko M, Parc, Yann, Ponz de Leon, Maurizio, Renkonen-Sinisalo, Laura, Sampson, Julian R, Stormorken, Astrid, Sijmons, Rolf H, Tejpar, Sabine, Thomas, Huw J W, Rahner, Nils, Wijnen, Juul T, Järvinen, Heikki Juhani, Möslein, Gabriela
Publicado 2013

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

por Møller, Pål, Seppälä, 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, Möslein, Gabriela, Sampson, Julian R, Capella, Gabriel
Publicado 2017

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

por Seppälä, Toni, Pylvänäinen, Kirsi, Evans, Dafydd Gareth, Järvinen, Heikki, Renkonen-Sinisalo, Laura, Bernstein, Inge, Holinski-Feder, Elke, Sala, Paola, 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, Genuardi, Maurizio, Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Frayling, Ian M., Plazzer, John-Paul, Sampson, Julian R., Capella, Gabriel, Möslein, Gabriela, Mecklin, Jukka-Pekka, Møller, Pål
Publicado 2017

Pathways to a cancer-free future: a protocol for modelled evaluations to minimise the future burden of colorectal cancer in Australia

por Feletto, Eleonora, Lew, Jie-Bin, Worthington, Joachim, He, Emily, Caruana, Michael, Butler, Katherine, Hui, Harriet, Taylor, Natalie, Banks, Emily, Barclay, Karen, Broun, Kate, Butt, Alison, Carter, Rob, Cuff, Jeff, Dessaix, Anita, Ee, Hooi, Emery, Jon, Frayling, Ian M, Grogan, Paul, Holden, Carol, Horn, Christopher, Jenkins, Mark A, Kench, James G, Laaksonen, Maarit A, Leggett, Barbara, Mitchell, Gillian, Morris, Susan, Parkinson, Bonny, St John, D James, Taoube, Linda, Tucker, Katherine, Wakefield, Melanie A, Ward, Robyn L, Win, Aung Ko, Worthley, Daniel L, Armstrong, Bruce K, Macrae, Finlay A, Canfell, Karen
Publicado 2020

Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

por Møller, Pål, Seppälä, Toni T, Bernstein, Inge, Holinski-Feder, Elke, Sala, Paulo, Gareth Evans, D, Lindblom, Annika, Macrae, Finlay, Blanco, Ignacio, Sijmons, Rolf H, Jeffries, Jacqueline, Vasen, Hans F A, Burn, John, Nakken, Sigve, Hovig, Eivind, Rødland, Einar Andreas, Tharmaratnam, Kukatharmini, de Vos tot Nederveen Cappel, Wouter H, Hill, James, Wijnen, Juul T, Jenkins, Mark A, Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Renkonen-Sinisalo, Laura, Valentin, Mev Dominguez, Frayling, Ian M, Plazzer, John-Paul, Pylvanainen, Kirsi, Genuardi, Maurizio, Mecklin, Jukka-Pekka, Moeslein, Gabriela, Sampson, Julian R, Capella, Gabriel
Publicado 2018

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla...

por Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary‐Alice, Atkin, Joan, Babovic‐Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben‐Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat‐Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández‐Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano‐Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin‐Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine
Publicado 2015

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

por Dominguez-Valentin, Mev, Sampson, Julian R., Seppälä, Toni T., ten Broeke, Sanne W., Plazzer, John-Paul, Nakken, Sigve, Engel, Christoph, Aretz, Stefan, Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Capella, Gabriel, Balaguer, Francesc, Thomas, Huw, Evans, D. Gareth, Burn, John, Greenblatt, Marc, Hovig, Eivind, de Vos tot Nederveen Cappel, Wouter H., Sijmons, Rolf H., Bertario, Lucio, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Della Valle, Adriana, Lopez-Köstner, Francisco, Gluck, Nathan, Katz, Lior H., Heinimann, Karl, Vaccaro, Carlos A., Büttner, Reinhard, Görgens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, Knebel Doeberitz, Magnus von, Loeffler, Markus, Rahner, Nils, Schackert, Hans K., Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Wadt, Karin, Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Moreira, Leticia, Sánchez, Ariadna, Serra-Burriel, Miquel, Pineda, Marta, Navarro, Matilde, Blanco, Ignacio, Green, Kate, Lalloo, Fiona, Crosbie, Emma J., Hill, James, Denton, Oliver G., Frayling, Ian M., Rødland, Einar Andreas, Vasen, Hans, Mints, Miriam, Neffa, Florencia, Esperon, Patricia, Alvarez, Karin, Kariv, Revital, Rosner, Guy, Pinero, Tamara Alejandra, Gonzalez, María Laura, Kalfayan, Pablo, Tjandra, Douglas, Winship, Ingrid M., Macrae, Finlay, Möslein, Gabriela, Mecklin, Jukka-Pekka, Nielsen, Maartje, Møller, Pål
Publicado 2019

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

por Dominguez-Valentin, Mev, Sampson, Julian R., Seppälä, Toni T., ten Broeke, Sanne W., Plazzer, John-Paul, Nakken, Sigve, Engel, Christoph, Aretz, Stefan, Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Capella, Gabriel, Balaguer, Francesc, Thomas, Huw, Evans, D. Gareth, Burn, John, Greenblatt, Marc, Hovig, Eivind, de Vos tot Nederveen Cappel, Wouter H., Sijmons, Rolf H., Bertario, Lucio, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Della Valle, Adriana, Lopez-Köstner, Francisco, Gluck, Nathan, Katz, Lior H., Heinimann, Karl, Vaccaro, Carlos A., Büttner, Reinhard, Görgens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, Knebel Doeberitz, Magnus von, Loeffler, Markus, Rahner, Nils, Schackert, Hans K., Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Wadt, Karin, Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Moreira, Leticia, Sánchez, Ariadna, Serra-Burriel, Miquel, Pineda, Marta, Navarro, Matilde, Blanco, Ignacio, Green, Kate, Lalloo, Fiona, Crosbie, Emma J., Hill, James, Denton, Oliver G., Frayling, Ian M., Rødland, Einar Andreas, Vasen, Hans, Mints, Miriam, Neffa, Florencia, Esperon, Patricia, Alvarez, Karin, Kariv, Revital, Rosner, Guy, Pinero, Tamara Alejandra, Gonzalez, María Laura, Kalfayan, Pablo, Tjandra, Douglas, Winship, Ingrid M., Macrae, Finlay, Möslein, Gabriela, Mecklin, Jukka-Pekka, Nielsen, Maartje, Møller, Pål
Publicado 2020