Browse by Current Cardiff authors

Loughrey, Mechelle, O'Connell, Lauren V., McSorley, Lynda, Martin, Sean, Hanly, Ann, Winter, Des C., Frayling, Ian M., Sheahan, Kieran and Kennelly, Rory 2024. Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland. Familial Cancer 24 (1) , 2. 10.1007/s10689-024-00427-7

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 and Aretz, Stefan 2024. Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS. American Journal of Human Genetics 111 (11) , pp. 2427-2443. 10.1016/j.ajhg.2024.09.002

McVeigh, Terri Patricia, Lalloo, Fiona, Frayling, Ian M., Latchford, Andrew, Snape, Katie, Durkie, Miranda, Monahan, Kevin J. and Hanson, Helen 2024. Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes:APCc.3920T>A p.(Ile1307Lys) as an exemplar. Journal of Medical Genetics 61 (8) , pp. 810-812. 10.1136/jmg-2024-109900

Fummey, Eilidh, Navarro, Pau, Plazzer, John-Paul, Frayling, Ian M, Knott, Sara and Tenesa, Albert 2024. Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank. Journal of Medical Genetics 10.1136/jmg-2023-109791

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. and Aretz, Stefan 2024. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel. Genetics in Medicine 26 (2) , 100992. 10.1016/j.gim.2023.100992

Valle, Laura, Katz, Lior H., Latchford, Andrew, Mur, Pilar, Moreno, Victor, Frayling, Ian M., Heald, Brandie and Capellá, Gabriel 2023. Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk. Journal of Medical Genetics 60 , pp. 1035-1043. 10.1136/jmg-2022-108984

Kang, Yoon-Jung, Caruana, Michael, McLoughlin, Kirstie, Killen, James, Simms, Kate, Taylor, Natalie, Frayling, Ian M., Coupé, Veerle M.H., Boussioutas, Alex, Trainer, Alison H., Ward, Robyn L., Macrae, Finlay and Canfell, Karen 2022. The predicted effect and cost-effectiveness of tailoring colonoscopic surveillance according to mismatch repair gene in patients with Lynch syndrome. Genetics in Medicine 24 (9) , pp. 1831-1846. 10.1016/j.gim.2022.05.016

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 and Canfell, Karen 2020. Pathways to a cancer-free future: a protocol for modelled evaluations to minimise the future burden of colorectal cancer in Australia. BMJ Open 10 (6) , e036475. 10.1136/bmjopen-2019-036475

Cerretelli, G., Ager, A. ORCID: https://orcid.org/0000-0002-5763-8908, Arends, M. J. and Frayling, I. M. 2020. Molecular pathology of Lynch Syndrome. Journal of Pathology 250 (5) , pp. 518-531. 10.1002/path.5422

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 and Canfell, Karen 2020. The predicted impact and cost-effectiveness of systematic testing of people with incident colorectal cancer for Lynch syndrome. Medical Journal of Australia 212 (2) , pp. 72-81. 10.5694/mja2.50356

Dominguez-Valentin, Mev, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, 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 and Møller, Pål 2020. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database. Genetics in Medicine 22 , pp. 15-25. 10.1038/s41436-019-0596-9

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 and Evans, D. Gareth 2019. The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome. Genetics in Medicine 21 , pp. 2390-2400. 10.1038/s41436-019-0489-y

Snowsill, Tristan M., Ryan, Neil A. J., Crosbie, Emma J., Frayling, Ian M., Evans, D. Gareth and Hyde, Chris J. 2019. Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting. PLoS ONE 14 (8) , e0221419. 10.1371/journal.pone.0221419

Pfuderer, Pauline L., Ballhausen, A, Seidler, F, Stark, H, Grabe, N, Frayling, I, Ager, A ORCID: https://orcid.org/0000-0002-5763-8908, Doeberitz, M, Kloor, M and Ahadova, A 2019. High endothelial venules are associated with microsatellite instability, hereditary background and immune evasion in colorectal cancer. British Journal of Cancer 121 , pp. 395-404. 10.1038/s41416-019-0514-6 Item availability restricted.

Ryan, Neil, Wall, Johanna, Crosbie, Emma J., Arends, Mark, Bosse, Tjalling, Arif, Saimah, Faruqi, Asma, Frayling, Ian, Ganesan, Raji, Hock, Ye Lin, McMahon, Raymond, Manchanda, Ranjit, McCluggage, W Glenn, Mukonoweshuro, Pinias, van Schalkwyk, Gerhard, Side, Lucy, Smith, John H, Tanchel, Bruce, Gareth Evans, D., Gilks, C Blake and Singh, Naveena 2019. Lynch syndrome screening in gynecological cancers: Results of an international aurvey with recommendations for uniform reporting terminology for mismatch repair immunohistochemistry results. Histopathology , -. 10.1111/his.13925

Wedden, Sarah, Miller, Keith, Frayling, Ian M., Thomas, Teresa, Chefani, Alina, Miller, Karolina, Hamblin, Angela, Taylor, Jenny C. and D'Arrigo, Corrado 2019. Colorectal cancer stratification in the routine clinical pathway. Applied Immunohistochemistry and Molecular Morphology 27 (6) , e54-e62. 10.1097/PAI.0000000000000631

Jiang, Wu, Cai, Mu-Yan, Li, Shi-Yong, Bei, Jin-Xin, Wang, Fang, Hampel, Heather, Ling, Yi-Hong, Frayling, Ian M., Sinicrope, Frank A., Rodriguez-Bigas, Miguel A., Dignam, James J., Kerr, David J., Rosell, Rafael, Mao, Mao, Li, Ji-Bin, Guo, Yun-Miao, Wu, Xiao-Yan, Kong, Ling-Heng, Tang, Jing-Hua, Wu, Xiao-Dan, Li, Chao-Feng, Chen, Jie-Rong, Ou, Qing-Jian, Ye, Ming-Zhi, Guo, Feng-Ming, Han, Peng, Wang, Qi-Wei, Wan, De-Sen, Li, Li, Xu, Rui-Hua, Pan, Zhi-Zhong and Ding, Pei-Rong 2019. Universal screening for Lynch syndrome in a large consecutive cohort of Chinese colorectal cancer patients: High prevalence and unique molecular features. International Journal of Cancer 144 (9) , pp. 2161-2168. 10.1002/ijc.32044

Evans, D. Gareth, Howell, Sacha J., Frayling, Ian M. and Peltonen, Juha 2018. Gene panel testing for breast cancer should not be used to confirm syndromic gene associations. npj Genomic Medicine 3 (1) , 32. 10.1038/s41525-018-0071-6

Møller, Pål, Seppälä, Toni T., Bernstein, Inge, Holinski-Feder, Elke, Sala, Paulo, Evans, D. Gareth, 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. ORCID: https://orcid.org/0000-0002-2902-2348 and Capella, Gabriel 2018. 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. Gut 67 (7) , pp. 1306-1316. 10.1136/gutjnl-2017-314057

Taylor, Amy, Brady, Angela F, Frayling, Ian M, Hanson, Helen, Tischkowitz, Marc, Turnbull, Clare and Side, Lucy 2018. Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group. Journal of Medical Genetics 55 (6) , pp. 372-377. 10.1136/jmedgenet-2017-105188

Snowsill, Tristan, Coelho, Helen, Huxley, Nicola, Jones-Hughes, Tracey, Briscoe, Simon, Frayling, Ian M. and Hyde, Chris 2017. Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation. Health Technology Assessment 21 (51) , pp. 1-280. 10.3310/hta21510

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. ORCID: https://orcid.org/0000-0002-2902-2348 and Capella, Gabriel 2017. Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database. Gut 66 (9) , pp. 1657-1664. 10.1136/gutjnl-2016-311403

Walton, Sarah-Jane, Frayling, Ian, Clark, Susan K. and Latchford, Andrew 2017. Gastric tumours in FAP. Familial Cancer 16 (3) , pp. 363-369. 10.1007/s10689-017-9966-0

Philpott, Charlotte, Tovell, Hannah, Frayling, Ian Martin, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Upadhyaya, Meena 2017. The NF1 somatic mutational landscape in sporadic human cancers. Human Genomics 11 (1) , 13. 10.1186/s40246-017-0109-3

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. ORCID: https://orcid.org/0000-0002-2902-2348, Capella, Gabriel, Mecklin, Jukka-Pekka and Möslein, Gabriela 2017. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut 66 (3) , pp. 464-472. 10.1136/gutjnl-2015-309675

Sethi, Mieran, Haque, Shaheen, Fawcett, Heather, Wing, Jonathan F., Chandler, Natalie, Mohammed, Shehla, Frayling, Ian, Norris, Paul G., McGibbon, David, Young, Antony R., Sarkany, Robert P.E., Lehmann, Alan R. and Fassihi, Hiva 2016. A distinct genotype of XP complementation group A: surprisingly mild phenotype highly prevalent in Northern India/Pakistan/Afghanistan [Letter]. Journal of Investigative Dermatology 136 (4) , pp. 869-872. 10.1016/j.jid.2015.12.031

Whitworth, James, Skytte, Anne-Bine, Sunde, Lone, Lim, Derek H., Arends, Mark J., Happerfield, Lisa, Frayling, Ian, van Minkelen, Rick, Woodward, Emma R., Tischkowitz, Marc D. and Maher, Eamonn R. 2016. Multilocus inherited neoplasia alleles syndrome. JAMA Oncology 2 (3) , pp. 373-379. 10.1001/jamaoncol.2015.4771

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, 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 and Messiaen, Ludwine 2015. High incidence of Noonan Syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation. Human Mutation 36 (11) , pp. 1052-1063. 10.1002/humu.22832

Frayling, Ian Martin 2015. Getting it right with Lynch Syndrome genetic and phenotypic diagnosis. Human Mutation 36 (6) , iii-iii. 10.1002/humu.22653

Frayling, Ian Martin and Arends, Mark J. 2015. How can histopathologists help clinical genetics in the investigation of suspected hereditary gastrointestinal cancer? Diagnostic Histopathology 21 (4) , pp. 137-146. 10.1016/j.mpdhp.2015.04.004

Winston, Jincy, Duerden, Laura, Mort, Matthew, Frayling, Ian, Rogers, Mark and Upadhyaya, Meena 2015. Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy. European Journal of Human Genetics 23 (1) , pp. 67-71. 10.1038/ejhg.2014.58

Snowsill, T., Huxley, N., Hoyle, M., Jones-Hughes, T., Coelho, H., Cooper, C., Frayling, Ian Martin and Hyde, C. 2015. A model-based assessment of the cost-utility of strategies to identify Lynch syndrome in early-onset colorectal cancer patients. BMC Cancer 15 , pp. 313-323. 10.1186/s12885-015-1254-5

Frayling, Ian and Ward, R. 2014. Should we consider introducing systematic screening for Lynch Syndrome? Cancer Forum 38 (3) , pp. 229-232.

Snowsill, Tristan, Huxley, Nicola, Hoyle, Martin, Jones-Hughes, Tracey, Coelho, Helen, Cooper, Chris, Frayling, Ian and Hyde, Chris 2014. A systematic review and economic evaluation of diagnostic strategies for Lynch syndrome. Health Technology Assessment 18 (58) , pp. 1-406. 10.3310/hta18580

Thompson, Bryony A., Spurdle, Amanda B., Plazzer, John-Paul, Greenblatt, Marc S., Akagi, Kiwamu, Al-Mulla, Fahd, Bapat, Bharati, Bernstein, Inge, Capella, Gabriel, den Dunnen, Johan T., du Sart, Desiree, Fabre, Aurelie, Farrell, Michael P., Farrington, Susan M., Frayling, Ian, Frebourg, Thierry, Goldgar, David E., Heinen, Christopher D., Holinski-Feder, Elke, Kohonen-Corish, Maija, Robinson, Kristina Lagerstedt, Leung, Suet Yi, Martins, Alexandra, Moller, Pal, Morak, Monika, Nystrom, Minna, Peltomaki, Paivi, Pineda, Marta, Qi, Ming, Ramesar, Rajkumar, Rasmussen, Lene Juel, Royer-Pokora, Brigitte, Scott, Rodney J., Sijmons, Rolf, Tavtigian, Sean V., Tops, Carli M., Weber, Thomas, Wijnen, Juul, Woods, Michael O., Macrae, Finlay and Genuardi, Maurizio 2014. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics 46 (2) , pp. 107-115.

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 Martin, Genuardi, Maurizio, Heinimann, Karl, Hes, Frederik J., Hodgson, Shirley V., Karagiannis, John A., Lalloo, Fiona, Lindblom, Annika, Mecklin, Jukka-Pekka, Moller, Pal, Myrhoj, Torben, Nagengast, Fokko M., Parc, Yann, de Leon, Maurizio Ponz, Renkonen-Sinisalo, Laura, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Stormorken, Astrid, Sijmons, Rolf H., Tejpar, Sabine, Thomas, Huw J. W., Rahner, Nils, Wijnen, Juul T., Jaervinen, Heikki Juhani and Moeslein, Gabriela 2013. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 62 (6) , pp. 812-823. 10.1136/gutjnl-2012-304356

Poulogiannis, George, Frayling, Ian Martin and Arends, Mark J. 2010. DNA mismatch repair deficiency in sporadic colorectal cancer and Lynch syndrome. Histopathology 56 (2) , pp. 167-179. 10.1111/j.1365-2559.2009.03392.x

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Hendicott, Bridget, MacSorley, Peter and Frayling, Ian Martin 2010. ‘Mainstreaming’ and the impact on clinical taxonomy: a clinical perspective on the introduction of new genetic tests. Weiser, Bernhard and Berger, Wilhelm, eds. Assessing Life: on the Organisation of Genetic Testing, Science and technology studies, vol. 59. München: Profil Verlag, pp. 133-154.

Jones, Wendy, Emmerson, L., Myring, J., Palmer-Smith, S., Frayling, Ian Martin and Murray, Alexandra 2009. Using the Wijnen Score to triage for mismatch repair gene analysis :a review of MSI negative results in Wales [Abstract]. Journal of Medical Genetics 46 (Supp.) , S111.

Frayling, Ian Martin 2009. New, less-invasive genetic diagnostic technologies from a potential user's standpoint [Abstract]. Journal of Medical Genetics 46 (Sup.1) , S33.

Yu, Veronica P. C. C., Novelli, Marco, Payne, Stewart J., Fisher, Sam, Barnetson, Rebecca A., Frayling, Ian, Barrett, Ann, Goudie, David, Ardern-Jones, Audrey, Eeles, Ros and Shanley, Susan 2009. Unusual presentation of Lynch Syndrome. Hereditary Cancer in Clinical Practice 7 , 12. 10.1186/1897-4287-7-12

Vasen, H. F. A., Möslein, G., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Blanco, I., Bulow, S., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, Ian Martin, Rahner, N., Hes, F. J., Hodgson, S., Mecklin, J.-P., Møller, P., Myrhøj, T., Nagengast, F. M., Parc, Y., Ponz de Leon, M., Renkonen-Sinisalo, L., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Stormorken, A., Tejpar, S., Thomas, H. J. W., Wijnen, J., Lubinski, J., Järvinen, H., Claes, E., Heinimann, K., Karagiannis, J. A., Lindblom, A., Dove-Edwin, I. and Müller, H. 2009. Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Familial Cancer 9 (2) , pp. 109-115. 10.1007/s10689-009-9291-3

Jeans, Alexander F., Frayling, Ian Martin, Jasani, Bharat, Side, Lucy, Blesing, Claire and Ansorge, Olaf 2009. Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation. Nature Reviews Clinical Oncology 6 (5) , pp. 295-299. 10.1038/nrclinonc.2009.35

Murray, Alexandra, Keegan, C., Gaff, C., Myring, J., Palmer-Smith, S., Butler, R., Rogers, M. and Frayling, Ian Martin 2008. Do the Cancer Genetics Service for Wales guidelines for selecting patients for tumour testing appropriately identify Lynch syndrome families? [Abstract]. Journal of Medical Genetics 45 (Supp.) , S119.

Wordsworth, S., Buchanan, J., Papanicolas, I., Taylor, J., Frayling, Ian Martin and Tomlinson, I. 2008. Molecular testing for somatic mutations in common cancers: the views of UK oncologists. Journal of Clinical Pathology 61 (6) , pp. 761-765. 10.1136/jcp.2007.054510

Vasen, H. F. A., Moeslein, G., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Blanco, I., Bulow, S., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, Ian, Friedl, W., Hes, F. J., Hodgson, S., Jarvinen, H., Mecklin, J-P, Moller, P., Myrhoi, T., Nagengast, F. M., Parc, Y., Phillips, R., Clark, S. K., de Leon, M. Ponz, Renkonen-Sinisalo, L., Sampson, J. R., Stormorken, A., Tejpar, S., Thomas, H. J. W. and Wijnen, J. 2008. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57 (5) , pp. 704-713. 10.1136/gut.2007.136127

Wordsworth, S., Papanicolas, I., Buchanan, J., Frayling, Ian Martin, Taylor, J. and Tomlinson, I. 2008. Molecular testing for somatic cancer mutations: a survey of current and future testing in UK laboratories. Journal of Clinical Pathology 61 (3) , pp. 373-376. 10.1136/jcp.2007.048819

Mantripragada, Kiran Kumar ORCID: https://orcid.org/0000-0003-2070-8105, Spurlock, Gillian, Kluwe, Lan, Chuzhanova, Nadia, Ferner, Rosalie E., Frayling, Ian Martin, Dumanski, Jan P., Guha, Abhijit Ranjan, Mautner, Victor and Upadhyaya, Meena 2008. High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization. Clinical Cancer Research 14 (4) , pp. 1015-1024. 10.1158/1078-0432.CCR-07-1305

Vasen, H. F. A, Moslein, G., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Blanco, I., Bulow, S., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, Ian Martin, Friedl, W., Hes, F. J., Hodgson, S., Jarvinen, H., Mecklin, J. P., Moller, P., Myrhoi, T., Nagengast, F. M., Parc, Y., Phillips, R., Clark, S. K., de Leon, M. P., Renkonen-Sinisalo, L., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Stormorken, A., Tejpar, S., Thomas, H. J. W. and Wijnen, J. 2008. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57 (5) , pp. 704-713. 10.1136/gut.2007.136127

Dallosso, Anthony Richard, Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472, Jones, N., Jones, Sian, Colley, James, Maynard, Julie Helen, Idziaszczyk, Shelley Alexis, Humphreys, Vikki, Arnold, J., Donaldson, A., Eccles, D., Ellis, A., Evans, D. G., Frayling, Ian, Hes, F. J., Houlston, R S, Maher, E R, Nielsen, M, Parry, S, Tyler, E, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2008. Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Gut 57 (9) , pp. 1252-1255. 10.1136/gut.2007.145748

Shen, Ming Hong ORCID: https://orcid.org/0000-0002-3891-7231, Mantripragada, Kiran Kumar ORCID: https://orcid.org/0000-0003-2070-8105, Dumanski, J. P., Frayling, Ian Martin and Upadhyaya, Meena 2007. Detection of copy number changes at the NF1 locus with improved high-resolution array CGH. Clinical Genetics 72 (3) , pp. 238-244. 10.1111/j.1399-0004.2007.00858.x

Carvajal-Carmona, L. G., Howarth, K. M., Lockett, M., Polanco-Echeverry, G. M., Volikos, E., Gorman, M., Barclay, E., Martin, L., Jones, A. M., Saunders, B., Guenther, T., Donaldson, A., Paterson, J., Frayling, Ian, Novelli, M. R., Phillips, R., Thomas, H. J. W., Silver, A., Atkin, W. and Tomlinson, I. P. M. 2007. Molecular classification and genetic pathways in hyperplastic polyposis syndrome. Journal of Pathology 212 (4) , pp. 378-385. 10.1002/path.2187

Vasen, H. F. A., Moslein, G., Alonso, A., Bernstein, I., Bertario, L., Blanco, I., Burn, J., Capella, G., Engel, C., Frayling, Ian Martin, Friedl, W., Hes, F. J., Hodgson, S., Mecklin, J-P, Moller, P., Nagengast, F., Parc, Y., Renkonen-Sinisalo, L., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Stormorken, A. and Wijnen, J. 2007. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). Journal of Medical Genetics 44 (6) , pp. 353-362. 10.1136/jmg.2007.048991

Gaff, C. L., Rogers, Mark and Frayling, Ian Martin 2007. Genetic counselling and consent for tumour testing in HNPCC. Clinical Genetics 71 (5) , pp. 400-405. 10.1111/j.1399-0004.2007.00779.x

Griffiths, Sian, Thompson, Peter, Frayling, Ian Martin and Upadhyaya, Meena 2007. Molecular diagnosis of neurofibromatosis type 1: 2 years experience. Familial Cancer 6 (1) , pp. 21-34. 10.1007/s10689-006-9001-3

Williams, J. G., Roberts, S. E., Ali, M. F., Cheung, W. Y., Cohen, D. R., Demery, G., Edwards, Adrian ORCID: https://orcid.org/0000-0002-6228-4446, Greer, M., Hellier, M., Hutchings, H. A., Ip, B., Longo, M. F., Russell, I. T., Snooks, H. A., Williams, J. C., Croft, Giles, Frayling, Ian, McGough, Norma, McIntyre, Alistair, Valori, Roland, Williams, Anne and Driscoll, Richard 2007. Gastroenterology services in the UK. The burden of disease, and the organisation and delivery of services for gastrointestinal and liver disorders: a review of the evidence [review]. Gut 56 (S1) , pp. 1-113. 10.1136/gut.2006.117598

Gaff, C. L., Rogers, Mark and Frayling, Ian 2006. Variability and inequity in testing of somatic tissue for hereditary cancer: a survey of UK clinical practice. Clinical Genetics 70 (4) , pp. 312-319. 10.1111/j.1399-0004.2006.00676.x

Sieber, O. M., Segditsas, S., Knudsen, A. L., Zhang, J., Luz, J., Rowan, A. J., Spain, S. L., Thirlwell, C., Howarth, K. M., Jaeger, E. E. M., Robinson, J., Volikos, E., Silver, A., Kelly, G., Aretz, S., Frayling, Ian, Hutter, P., Dunlop, M., Guenther, T., Neale, K., Phillips, R., Heinimann, K. and Tomlinson, I. P. M. 2006. Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation. Gut 55 (10) , pp. 1440-1448. 10.1136/gut.2005.087106

Antoniadi, Thalia, Lazarou, L. P., Robson, E., Duarte, H., Frayling, Ian Martin and Pilz, D. T. 2006. MLPA analysis of patients with classical lissencephaly reveals a high frequency of deletions. Journal of Medical Genetics 43 , S81-S81.

Mantripragada, Kiran Kumar ORCID: https://orcid.org/0000-0003-2070-8105, Spurlock, Gillian, Kluwe, L., Pandita, A., Guha, A., Evans, G., Ferner, R. E., Mautner, V., Frayling, Ian Martin, Dumanski, J. P. and Upadhyaya, Meena 2006. Comprehensive DNA copy number profiling of malignant peripheral nerve sheath tumours (MPNSTs) using array based comparative genomic hybridisation (array-CGH) [Abstract]. Journal of Medical Genetics 43 (Supp.) , S19.

Papanicolas, Irene, Wordsworth, S., Buchanan, J., Taylor, J., Frayling, Ian Martin and Tomlinson, I. 2006. Current and future molecular testing of cancers: a survey of UK laboratories [Abstract]. Journal of Medical Genetics 43 (Supp.) , S70.

Poulogiannis, G., Ichimura, K., Miller, N. G. A., Frayling, Ian Martin, Morris, R. G., Harrison, D. J., Collins, V. P., Ibrahim, A., Wyllie, A. H. and Arends, M. J. 2006. Cyclin D2 gene abnormalities in colorectal cancers identified by array comparative genomic hybridisation. The Journal of Pathology 210 , p. 13.

Hughes, Lisa, Palmer-Smith, S., Rogers, M. T., Frayling, Ian Martin, Stephens, M., Rosser, L., Jasani, Bharat, Williams, Geraint ORCID: https://orcid.org/0000-0003-3768-9940 and Jasani, B. 2006. Investigation of an HNPCC mutation of unknown significance - A clinical and laboratory perspective [Abstract]. Journal of Medical Genetics 43 (Supp.) , S73.

Shen, Ming Hong ORCID: https://orcid.org/0000-0002-3891-7231, Mantripragada, Kiran Kumar ORCID: https://orcid.org/0000-0003-2070-8105, Dumanski, J., Frayling, Ian and Upadhyaya, Meena 2006. DNA microarray for detection of copy number changes at the NF1 locus using array comparative genomic hybridisation (CGH) analysis [Abstract]. Journal of Medical Genetics 43 (Supp.) , S19.

Walker, L., Thompson, D., Easton, D., Ponder, B., Ponder, M., Frayling, Ian Martin and Baralle, D. 2006. A prospective study of neurofibromatosis type 1 cancer incidence in the UK. British Journal of Cancer 95 (2) , pp. 233-238. 10.1038/sj.bjc.6603227

Poulogiannis, G., Ichimura, K., Apps, J. R., Luo, F., Frayling, Ian Martin, Morris, R. G., Harrison, D. J., Collins, V. P., Ibrahim, A., Wyllie, A. H. and Arends, M. J. 2006. Small-scale genomic abnormalities on specific chromosomes in sporadic colorectal cancers are associated with poorer survival. [Abstract]. The Journal of Pathology 208 (Sup.1) , 14A. 10.1002/path.1957

Poulogiannis, G., Ichimura, K., Miller, N. G.A., Frayling, Ian Martin, Morris, R. G., Harrison, D. J., Collins, V. P., Ibrahim, A. E. K., Wyllie, A. H. and Arends, M. J. 2005. 1Mb resolution array-CGH identifies small chromosome aberrations in colorectal cancers [Abstract]. The Journal of Pathology 207 , 47A. 10.1002/path.1854

Rosser, L, Rolleston, S. J. H., Rogers, M. T., France, E., Butler, R., Frayling, Ian Martin and Palmer-Smith, S. M. 2005. Investigation of significance of BRCA2 missense variants Glu2856Ala and Leu2890lle. Journal of Medical Genetics 42 , S113-S113.

Griffiths, Sian, Frayling, Ian and Upadhyaya, Meena 2005. Molecular diagnosis of Neurofibromatosis Type 1 (NF1): An 18 months experience [Abstract]. Journal of Medical Genetics 42 (Supp.) , S97.

Walker, Lisa, Thompson, D., Frayling, Ian Martin and Baralle, D. 2005. Malignancy in neurofibromatosis type 1 [Abstract]. Journal of Medical Genetics 42 (Supp.) , S48.

Akrami, Seyed Mohammad, Dunlop, Malcolm G., Farrington, Susan M., Frayling, Ian Martin, MacDonald, Fiona, Harvey, John F. and Armour, John A. L. 2005. Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH. Familial Cancer 4 (2) , pp. 145-149. 10.1007/s10689-004-6131-3

Poulogiannis, G., Ichimura, K., Miller, N. G. A., Frayling, Ian Martin, Morris, R. G., Harrison, D. J., Collins, V. P., Ibrahim, A. and Wyllie, A. H. 2005. 1Mb resolution array-CGH identifies small chromosome aberrations in chromosome unstable and microsatellite unstable colorectal cancers [Abstract]. The Journal of Pathology 205 (Sup.1) , 1A. 10.1002/path.1762

Poulogiannis, G., Ichimura, K., Miller, N. G., Frayling, Ian Martin, Morris, R. G., Harrison, D J., Collins, V. P., Ibrahim, A., Wyllie, A. H. and Arends, M. J. 2004. Array-CGH demonstrates chromosome aberrations in both near-diploid and microsatellite unstable colorectal cancers [Abstract]. The Journal of Pathology 204 (Sup.1) , 4A. 10.1002/path.1770

Walker, Lisa, Hyer, W., Hutchins, J., Randhawa, K., Holder, S. and Frayling, Ian Martin 2004. Polyposis and learning difficulties: a report of two cases [Abstract]. Journal of Medical Genetics 41 (Suppl.) , S39.

Frayling, Ian Martin 2004. Universal consent form might help [Letter]. BMJ 328 (7449) , p. 1203. 10.1136/bmj.328.7449.1203-d

Stephens, Mark, Palmer-Smith, S., Frayling, Ian Martin, Jasani, B., Williams, G. T., Rogers, M. T. and Butler, R. 2004. Establishing an integrated, multidiscipline approach for the management of HNPCC in Wales. A review of the first 12 months [Abstract]. Journal of Medical Genetics 41 (Supp.) , S71.

Oakhill, Kim, Whittaker, J., Paterson, J., Arends, M. J. and Frayling, Ian Martin 2003. A screening strategy for HNPCC [Abstract]. Journal of Medical Genetics 40 (Supp.) , S67.

Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472, Jones, Sian, Eccles, Diana, Ellis, Anthony, Evans, D. Gareth, Frayling, Ian Martin, Jordan, Sheila, Maher, Eamonn R., Mak, Tony, Maynard, Julie Helen, Pigatto, Francesca, Shaw, Joan and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2003. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. The Lancet 362 (9377) , pp. 39-41. 10.1016/S0140-6736(03)13805-6

Bugajska, U., Frayling, Ian Martin, Happerfield, L. and Arends, M. J. 2002. Immunohistochemical analysis of MGMT and mismatch repair proteins in colorectal serrated adenomas and carcinomas [Abstract]. The Journal of Pathology 198 (1) , 35A. 10.1002/path.1711980102

Jimenez-Linan, M., Frayling, Ian, Happerfield, L., Wood, N. and Arends, M. J. 2002. Microsatellite instability and immunohistochemical patterns of hMSH2, hMLH1 and hMSH6 expression in tumours from hereditary non-polyposis colorectal cancer families [Abstract]. The Journal of Pathology 198 (1) , 34A. 10.1002/path.1711980102

Frayling, Ian Martin, Arends, M. J., Stefanini, M., Woodrow, S., Happerfield, L., Miller, R., Lehmann, A. R, and Norris, P, 2002. Xeroderma pigmentosum and HNPCC in the same family. Journal of Medical Genetics 39 , S48-S48.

Frayling, Ian Martin 2002. Genetic testing & bowel cancer - The wider perspective. Journal of Medical Genetics 39 , S28-S28.

Hao, X. P., Frayling, Ian Martin, Sgouros, J. G., Du, M. Q., Willcocks, T. C., Talbot, I. C. and Tomlinson, I. P. M. 2002. The spectrum of p53 mutations in colorectal adenomas differs from that in colorectal carcinomas. Gut 50 (6) , pp. 834-839. 10.1136/gut.50.6.834

Hao, Xingpei, Frayling, Ian Martin, Willcocks, Teresa C., Han, Wei, Tomlinson, Ian P., Pignatelli, Massimo N., Pretlow, Theresa P. and Talbot, Ian C. 2002. beta-catenin expression and allelic loss at APC in sporadic colorectal carcinogenesis. Virchovs Archiv 440 (4) , pp. 362-366. 10.1007/s00428-001-0570-0

Frayling, Ian Martin 2002. Methods of molecular analysis: mutation detection in solid tumours. Molecular Pathology 55 (2) , pp. 73-79. 10.1136/mp.55.2.73

Frayling, Ian Martin 2001. Functional significance of SNPs in cancer [Abstract]. Journal of Medical Genetics 38 (Supp.) , S13.

Jimenez-Linan, M., Happerfield, L., Frayling, Ian Martin and Arends, M. J. 2001. MSH2 and MLH1 immunostaining patterns in normal tissue and tumours from hereditary non-polyposis colorectal cancer families [Abstract]. The Journal of Pathology 193 (1) , 25A. 10.1002/path.1711930102

Lamlum, Hanan, Al-Tassan, Nada A., Jaeger, Emma, Frayling, Ian Martin, Sieber, Oliver, Bin Reza, Faisal, Eckert, Maria, Rowan, Andrew, Barclay, Ella, Atkin, Wendy, Williams, Christopher, Gilbert, John, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Bell, Jennie, Houlston, Richard, Bodmer, Walter, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Tomlinson, Ian 2000. Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. Human Molecular Genetics 9 (15) , pp. 2215-2221.

Woodford-Richens, K., Williamson, J., Bevan, S., Young, J., Jass, J., Leggett, B., Frayling, Ian Martin, Thway, Y., Hodgson, S., Kim, J. C., Iwama, T, Novelli, M, Sheer, D, Poulson, R, Wright, NA, Houlston, R and Tomlinson, I 2000. Juvenile polyposis lesions show clonal loss of SMAD4 in epithelial as well as stromal compartments, endorsing the "gatekeeper" not the "landscaper" hypothesis [Abstract]. The Journal of Pathology 192 (1) , 10A. 10.1002/path.1711920102

Frayling, Ian, Payne, S. J., Bell, J. A., Cook, J. A., Maher, E. R., Mackay, J., Tomlinson, I. P. M. and Whittaker, J. L. 2000. HNPCC or attenuated FAP? Lessons from a colorectal cancer family with MSH2 T905R and APC R332X [Abstract]. Journal of Medical Genetics 37 (Supp) , S37.

Woodford-Richens, Kelly, Williamson, Jill, Bevan, Stephen, Young, Joanne, Leggett, Barbara, Frayling, Ian Martin, Thway, Yi, Hodgson, Shirley, Kim, Jin Cheon, Iwama, Takeo, Novelli, Marco, Sheer, Denise, Poulsom, Richard, Wright, Nicholas, Houlston, Richard and Tomlinson, Ian 2000. Allelic loss at SMAD4 in polyps from juvenile polyposis patients and use of fluorescence in situ hybridization to demonstrate clonal origin of the epithelium. Cancer Research 60 (9) , pp. 2477-2482.

Popat, Sanjay, Stone, Joanne, Coleman, Gary, Marshall, Gill, Peto, Julian, Frayling, Ian Martin and Houlston, Richard 2000. Prevalence of the APC E1317Q variant in colorectal cancer patients. Cancer Letters 149 (1-2) , pp. 203-206. 10.1016/S0304-3835(99)00360-2

Middleton, S. B., Frayling, Ian Martin and Phillips, R. K. S. 2000. Desmoids in familial adenomatous polyposis are monoclonal proliferations. British Journal of Cancer 82 (4) , pp. 827-832. 10.1054/bjoc.1999.1007

Lamlum, Hanan, Ilyas, Mohammad, Rowan, Andrew, Clark, Susan, Johnson, Victoria, Bell, Jennie, Frayling, Ian Martin, Efstathiou, Jason, Pack, Kevin, Payne, Stewart, Roylance, Rebecca, Gorman, Patricia, Sheer, Denise, Neale, Kay, Phillips, Robin, Talbot, Ian, Bodmer, Walter and Tomlinson, Ian 1999. The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis. Nature Medicine 5 (9) , pp. 1071-1075. 10.1038/12511

Payne, S. J., Singh, H., Frayling, Ian Martin and Robertson, M. E. 1999. Mutation screening service for the PTEN gene [Abstract]. Journal of Medical Genetics 36 (Supp.) , S87.

Wallace, Marina, Frayling, Ian, Clark, Susan, Neale, Kay and Phillips, Robin K. S. 1999. Attenuated adenomatous polyposis coli - The role of ascertainment bias through failure to dye-spray at colonoscopy. Diseases of the Colon & Rectum 42 (8) , pp. 1078-1080. 10.1007/BF02236707

Frayling, Ian 1999. Microsatellite instability. Gut 45 (1) , pp. 1-4. 10.1136/gut.45.1.1

Middleton, S. B., Clark, S. K., Frayling, Ian Martin and Phillips, R. K. S. 1999. The nature of FAP-associated desmoids; analysis of patterns of X-chromosome inactivation [Abstract]. Gastroenterology 116 (4) , A463.

Tomlinson, Ian, Rahman, Nazneen, Frayling, Ian, Mangion, Jon, Barfoot, Rita, Hamoudi, Rifat, Seal, Sheila, Northover, Jon, Thomas, Huw J. W., Neale, Kay, Hodgson, Shirley, Talbot, Ian, Houlston, Richard and Stratton, Michael R. 1999. Inherited susceptibility to colorectal adenomas and carcinomas: Evidence for a new predisposition gene on 15q14-q22. Gastroenterology 116 (4) , pp. 789-795. 10.1016/S0016-5085(99)70061-2

Marsh, D. J., Dahia, P. L. M., Caron, S., Kum, J. B., Frayling, Ian, Tomlinson, I. P. M., Hughes, K. S., Eeles, R. A., Hodgson, S. V., Murday, V. A., Houlston, R. and Eng, C. 1998. Germline PTEN mutations in Cowden syndrome-like families. Journal of Medical Genetics 35 (11) , pp. 881-885.

Frayling, Ian Martin, Beck, Nicholas E., Ilyas, Mohammad, Dove-Edwin, Isis, Goodman, Peter, Pack, Kevin, Bell, Jennifer A., Williams, Christopher B., Hodgson, Shirley V., Thomas, Huw J. W., Talbot, Ian C., Bodmer, Walter F. and Tomlinson, Ian P. M. 1998. The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Proceedings of the National Academy of Sciences of the United States of America 95 (18) , pp. 10722-10727.

Hao, X. P., Frayling, Ian, Willcocks, T. C., Tomlinson, I. P., Pignatelli, M. N. and Talbot, I. C. 1998. Loss of heterozygosity at APC and beta-catenin expression in sporadic colorectal carcinogenesis [Abstract]. Journal of Pathology 186 (1) , 14A-14A. 10.1002/path.1711860102

Clark, S. K., Johnson-Smith, T. G. P., Katz, D. E., Reznek, R. H., Frayling, Ian Martin and Phillips, R. K.S. 1998. Desmoid precursor lesions [Abstract]. British Journal of Surgery 85 (5) , p. 711. 10.1046/j.1365-2168.1998.00794.x

Dove-Edwin, I., Frayling, Ian and Thomas, H. J. W. 1998. I1307K Adenomatous polyposis coli gene mutation in colorectal cancer patients with a family history or early onset of colorectal cancer attending a family cancer clinic in London. Gastroenterology 114 (Supp 1) , A586-A586. 10.1016/S0016-5085(98)82383-4

Hao, X. P., Frayling, Ian Martin, Willcocks, T. C. and Talbot, I. C. 1998. Loss of heterozygosity at PTEN in sporadic colorectal adenomas. The Journal of Pathology 186 , 18A-18A.

Hao, X. P., Frayling, Ian Martin, Du, M. Q., Peng, H. Z., Pan, L. X., Willcocks, T. and Talbot, I. C. 1998. TP53 mutation in the colorectal adenoma-carcinoma sequence [Abstract]. The Journal of Pathology 184 (Supp.) , 3A.