Molecular pathology of Lynch syndrome von Cerretelli, Guia, Ager, Ann, Arends, Mark J, Frayling, Ian M

Volltext

DNA mismatch repair deficiency in sporadic colorectal cancer and Lynch syndrome von Poulogiannis, George, Frayling, Ian M, Arends, Mark J

Volltext

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

Volltext

The NF1 somatic mutational landscape in sporadic human cancers von Philpott, Charlotte, Tovell, Hannah, Frayling, Ian M, Cooper, David N, Upadhyaya, Meena

Volltext

Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation von Snowsill, Tristan, Coelho, Helen, Huxley, Nicola, Jones-Hughes, Tracey, Briscoe, Simon, Frayling, Ian M, Hyde, Chris

Volltext

Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting von Snowsill, Tristan M, Ryan, Neil A J, Crosbie, Emma J, Frayling, Ian M, Evans, D Gareth, Hyde, Chris J

Volltext

Lynch syndrome – cancer pathways, heterogeneity and immune escape von Seth, Sidhant, Ager, Ann, Arends, Mark J, Frayling, Ian M

Volltext

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

Volltext

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

Volltext

A systematic review and economic evaluation of diagnostic strategies for Lynch syndrome von Snowsill, Tristan, Huxley, Nicola, Hoyle, Martin, Jones-Hughes, Tracey, Coelho, Helen, Cooper, Chris, Frayling, Ian, Hyde, Chris

Volltext

Gastric tumours in FAP von Walton, Sarah-Jane, Frayling, Ian M., Clark, Susan K., Latchford, Andrew

Volltext

Getting It Right with Lynch Syndrome Genetic and Phenotypic Diagnosis von Frayling, Ian M.

Volltext

From doctors as patients: a manifesto for tackling persisting symptoms of covid-19 von Alwan, Nisreen A, Attree, Emily, Blair, Jennifer Mary, Bogaert, Debby, Bowen, Mary-Ann, Boyle, John, Bradman, Madeleine, Briggs, Tracy Ann, Burns, Sarah, Campion, Daniel, Cushing, Katherine, Delaney, Brendan, Dixon, Chris, Dolman, Grace E, Dynan, Caitriona, Frayling, Ian M, Freeman-Romilly, Nell, Hammond, Iulia, Judge, Jenny, Järte, Linn, Lokugamage, Amali, MacDermott, Nathalie, MacKinnon, Mairi, Majithia, Visita, Northridge, Tanya, Powell, Laura, Rayner, Clare, Read, Ginevra, Sahu, Ekta, Shand, Claudia, Small, Amy, Strachan, Cara, Suett, Jake, Sykes, Becky, Taylor, Sharon, Thomas, Kevin, Thomson, Margarita, Wiltshire, Alexis, Woods, Victoria

Volltext

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

Volltext

Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway von McRonald, Fiona E, Pethick, Joanna, Santaniello, Francesco, Shand, Brian, Tyson, Adele, Tulloch, Oliver, Goel, Shilpi, Lüchtenborg, Margreet, Borthwick, Gillian M, Turnbull, Clare, Shaw, Adam C, Monahan, Kevin J, Frayling, Ian M, Hardy, Steven, Burn, John

Volltext

Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland von Loughrey, Mechelle, O’Connell, Lauren V., McSorley, Lynda, Martin, Sean, Hanly, Ann, Winter, Des C., Frayling, Ian M., Sheahan, Kieran, Kennelly, Rory

Volltext

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS von Yin, Xiaoyu, Richardson, Marcy, Laner, Andreas, Shi, Xuemei, Ognedal, Elisabet, Vasta, Valeria, Hansen, Thomas v.O., Pineda, Marta, Ritter, Deborah, de Dunnen, Johan, Hassanin, Emadeldin, Lin, Wencong Lyman, Borras, Ester, Krahn, Karl, Nordling, Margareta, Martins, Alexandra, Mahmood, Khalid, Nadeau, Emily, Beshay, Victoria, Tops, Carli, Genuardi, Maurizio, Pesaran, Tina, Frayling, Ian M., Capellá, Gabriel, Latchford, Andrew, Tavtigian, Sean V., Maj, Carlo, Plon, Sharon E., Greenblatt, Marc S., Macrae, Finlay A., Spier, Isabel, Aretz, Stefan

Volltext

Challenges in molecular diagnosis of Wilson disease von Reeve, Janice LV, Frayling, Ian M, Twomey, Patrick J

Volltext

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

Volltext

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Pa... von Spier, Isabel, Yin, Xiaoyu, Richardson, Marcy, Pineda, Marta, Laner, Andreas, Ritter, Deborah, Boyle, Julie, Mur, Pilar, Hansen, Thomas v O., Shi, Xuemei, Mahmood, Khalid, Plazzer, John-Paul, Ognedal, Elisabet, Nordling, Margareta, Farrington, Susan M., Yamamoto, Gou, Baert-Desurmont, Stéphanie, Martins, Alexandra, Borras, Ester, Tops, Carli, Webb, Erica, Beshay, Victoria, Genuardi, Maurizio, Pesaran, Tina, Capellá, Gabriel, Tavtigian, Sean V., Latchford, Andrew, Frayling, Ian M., Plon, Sharon E., Greenblatt, Marc, Macrae, Finlay A., Aretz, Stefan

Volltext