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8. Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer

Author

Chan, James M., Clendenning, Mark, Joseland, Sharelle, Georgeson, Peter, Mahmood, Khalid, Walker, Romy, Como, Julia, Joo, Jihoon E., Preston, Susan, Hutchinson, Ryan A., Pope, Bernard J., Metz, Andrew, Beard, Catherine, Purvis, Rebecca, Arnold, Julie, Vijay, Varnika, Konycheva, Galina, Atkinson, Nathan, Parry, Susan, Jenkins, Mark A., Macrae, Finlay A., Rosty, Christophe, Winship, Ingrid M., and Buchanan, Daniel D.

Published
2022
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9. Body Mass Index, sex, non-steroidal anti-inflammatory drug medications, smoking and alcohol are differentially associated with World Health Organisation criteria and colorectal cancer risk in people with Serrated Polyposis Syndrome: an Australian case-control study

Author

Anthony, Emma, Reece, Jeanette C., Milanzi, Elasma, Joo, Jihoon E., Joseland, Sharelle, Clendenning, Mark, Whelan, Amanda, Parry, Susan, Arnold, Julie, Vijay, Varnika, Atkinson, Nathan, Hopper, John L., Win, Aung K., Jenkins, Mark A., Macrae, Finlay A., Winship, Ingrid M., Rosty, Christophe, and Buchanan, Daniel D.

Published
2022
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10. 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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11. Protocol for a national, multicentre study of post‐endoscopy colorectal and upper gastrointestinal cancers: The POET study.

Author

Xu, William, McGuinness, Matthew James, Wells, Cameron, Varghese, Chris, Elliott, Brodie, Paterson, Luke, Collins, Ray, Lill, Marianne, Windsor, John, Koea, Jonathan, Panoho, Joy, Walmsley, Russell, Wright, Deborah, Parry, Susan, and Harmston, Christopher

Subjects
GASTROINTESTINAL cancer, PUBLIC hospitals, COLORECTAL cancer, CANCER diagnosis, COHORT analysis
Abstract

Aim: The primary aim of the study is to define the post‐colonoscopy colorectal cancer (PCCRC) three‐year rate and the post‐endoscopy upper gastrointestinal cancer (PEUGIC) three‐year rate across public hospitals in Aotearoa New Zealand. Method: This retrospective cohort study will be conducted via the trainee‐led STRATA Collaborative network. All public hospitals in Aotearoa New Zealand will be eligible to participate. Data will be collected on all adult patients who are diagnosed with colorectal adenocarcinoma within 6 to 48 months of a colonoscopy and all adult patients diagnosed with gastroesophageal cancer within 6 to 48 months of an upper gastrointestinal endoscopy. The study period will be from 2010 to 2022. The primary outcome is the PCCRC 3‐year rate and the PEUGIC 3‐year rate. Secondary aims are to define and characterize survival after PCCRC or PEUGIC, the cause of PCCRC as based on the World Endoscopy Organization System of Analysis definitions, trends over time, and centre level variation. Conclusion: This protocol describes the methodology for a nationwide retrospective cohort study on PCCRC and PEUGIC in Aotearoa New Zealand. These data will lay the foundation for future studies and quality improvement initiatives. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

Author

Win, Aung Ko, Dowty, James G., Reece, Jeanette C., Lee, Grant, Templeton, Allyson S., Plazzer, John-Paul, Buchanan, Daniel D., Akagi, Kiwamu, Aksoy, Seçil, Alonso, Angel, Alvarez, Karin, Amor, David J., Ankathil, Ravindran, Aretz, Stefan, Arnold, Julie L., Aronson, Melyssa, Austin, Rachel, Backman, Ann-Sofie, Bajwa-ten Broeke, Sanne W., Barca-Tierno, Verónica, Barwell, Julian, Bernstein, Inge, Berthet, Pascaline, Betz, Beate, Bignon, Yves-Jean, Boisjoli, Talya, Bonadona, Valérie, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buecher, Bruno, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Capella, Gabriel, Caron, Olivier, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Cops, Elisa J., Coupier, Isabelle, Cruz-Correa, Marcia, de la Chapelle, Albert, de Wind, Niels, Dębniak, Tadeusz, Della Valle, Adriana, Delnatte, Capuccine, Dhooge, Marion, Dominguez-Valentin, Mev, Drouet, Youenn, Duijkers, Floor A., Engel, Christoph, Esperon, Patricia, Evans, D. Gareth, Falcón de Vargas, Aída, Figueiredo, Jane C, Foulkes, William, Fourme, Emmanuelle, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Gerdes, Anne-Marie, Gima, Lauren M., Giraud, Sophie, Goodwin, Annabel, Görgens, Heike, Green, Kate, Guillem, Jose, Guillén-Ponce, Carmen, Guimbaud, Roselyne, Guindalini, Rodrigo S.C., Half, Elizabeth E., Hall, Michael J, Hampel, Heather, Hansen, Thomas V.O., Heinimann, Karl, Hes, Frederik J., Hill, James, Ho, Judy W.C., Holinski-Feder, Elke, Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, James, Paul A., Jensen, Uffe B, John, Thomas, Juhari, Wan K.W., Kalady, Matthew, Kastrinos, Fay, Kloor, Matthias, Kohonen-Corish, Maija RJ, Krogh, Lotte N., Kupfer, Sonia S., Ladabaum, Uri, Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lasset, Christine, Latchford, Andrew, Laurent-Puig, Pierre, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, LeMarchand, Loic, Ligtenberg, Marjolijn, Lindor, Noralane, Loeffler, Markus, Longy, Michel, Lopez, Francisco, Lowery, Jan, Lubiński, Jan, Lucassen, Anneke M, Lynch, Patrick M., Malińska, Karolina, Matsubara, Nagahide, Mecklin, Jukka-Pekka, Møller, Pål, Monahan, Kevin, Morrison, Patrick J., Nattermann, Jacob, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Newcomb, Polly A., Ngeow, Joanne, Nichols, Cassandra, Nielsen, Maartje, Nixon, Dawn M., Nogues, Catherine, Okkels, Henrik, Olschwang, Sylviane, Pachter, Nicholas, Pai, Rish K., Palmero, Edenir I., Pande, Mala, Parry, Susan, Patel, Swati G., Pearlman, Rachel, Perne, Claudia, Pineda, Marta, Poplawski, Nicola K, Pylvänäinen, Kirsi, Qiu, Jay, Rahner, Nils, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Reis, Rui M., Ricciardiello, Luigi, Rogoża-Janiszewska, Emilia, Rosty, Christophe, Samadder, N. Jewel, Sampson, Julian R., Schackert, Hans K., Schmiegel, Wolff, Schulmann, Karsten, Schuster, Helène, Scott, Rodney, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Snyder, Carrie, Solomon, Ilana B., Soto, Jose Luis, Southey, Melissa C., Spigelman, Allan, Spirandelli, Florencia, Spurdle, Amanda B., Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Susman, Rachel, Syngal, Sapna, Tanakaya, Kohji, Tezcan, Gülçin, Therkildsen, Christina, Thibodeau, Steve, Tomita, Naohiro, Tucker, Katherine M., Tunca, Berrin, Turchetti, Daniela, Uhrhammer, Nancy, Utsunomiya, Joji, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vangala, Deepak B., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Wadt, Karin A.W., Ward, Robyn L., Weitz, Jürgen, Weitzel, Jeffrey N., Williams, Heinric, Winship, Ingrid, Wise, Paul E., Wods, Julie, Woods, Michael O., Yamaguchi, Tatsuro, Zachariae, Silke, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Macrae, Finlay A., Möslein, Gabriela, and Jenkins, Mark A.

Published
2021
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14. Hereditary diffuse gastric cancer: updated clinical practice guidelines

Author

Blair, Vanessa R, McLeod, Maybelle, Carneiro, Fátima, Coit, Daniel G, D'Addario, Johanna L, van Dieren, Jolanda M, Harris, Kirsty L, Hoogerbrugge, Nicoline, Oliveira, Carla, van der Post, Rachel S, Arnold, Julie, Benusiglio, Patrick R, Bisseling, Tanya M, Boussioutas, Alex, Cats, Annemieke, Charlton, Amanda, Schreiber, Karen E Chelcun, Davis, Jeremy L, Pietro, Massimiliano di, Fitzgerald, Rebecca C, Ford, James M, Gamet, Kimberley, Gullo, Irene, Hardwick, Richard H, Huntsman, David G, Kaurah, Pardeep, Kupfer, Sonia S, Latchford, Andrew, Mansfield, Paul F, Nakajima, Takeshi, Parry, Susan, Rossaak, Jeremy, Sugimura, Haruhiko, Svrcek, Magali, Tischkowitz, Marc, Ushijima, Toshikazu, Yamada, Hidetaka, Yang, Han-Kwang, Claydon, Adrian, Figueiredo, Joana, Paringatai, Karyn, Seruca, Raquel, Bougen-Zhukov, Nicola, Brew, Tom, Busija, Simone, Carneiro, Patricia, DeGregorio, Lynn, Fisher, Helen, Gardner, Erin, Godwin, Tanis D, Holm, Katharine N, Humar, Bostjan, Lintott, Caroline J, Monroe, Elizabeth C, Muller, Mark D, Norero, Enrique, Nouri, Yasmin, Paredes, Joana, Sanches, João M, Schulpen, Emily, Ribeiro, Ana S, Sporle, Andrew, Whitworth, James, Zhang, Liying, Reeve, Anthony E, and Guilford, Parry

Published
2020
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15. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

Author

Maller, 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, LubiÅski, 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, DÄbniak, 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, Dueéas, 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.

Subjects
EPUB (Standard) -- Comparative analysis, Colonoscopy -- Comparative analysis, Colorectal cancer -- Comparative analysis, Health
Abstract

Objective To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants. Methods CRC incidences were calculated in an intervention group comprising a cohort of confirmed carriers of pathogenic or likely pathogenic variants in mismatch repair genes (path_MMR) followed prospectively by the Prospective Lynch Syndrome Database (PLSD). All had colonoscopy surveillance, with polypectomy when polyps were identified. Comparison was made with a retrospective cohort reported by the International Mismatch Repair Consortium (IMRC). This comprised confirmed and inferred path_MMR carriers who were first- or second-degree relatives of Lynch syndrome probands. Results In the PLSD, 8,153 subjects had follow-up colonoscopy surveillance for a total of 67,604 years and 578 carriers had CRC diagnosed. Average cumulative incidences of CRC in path_MLH1 carriers at 70 years of age were 52% in males and 41% in females; for path_MSH2 50% and 39%; for path_MSH6 13% and 17% and for path_PMS2 11% and 8%. In contrast, in the IMRC cohort, corresponding cumulative incidences were 40% and 27%; 34% and 23%; 16% and 8% and 7% and 6%. Comparing just the European carriers in the two series gave similar findings. Numbers in the PLSD series did not allow comparisons of carriers from other continents separately. Cumulative incidences at 25 years were < 1% in all retrospective groups. Conclusions Prospectively observed CRC incidences (PLSD) in path_MLH1 and path_MSH2 carriers undergoing colonoscopy surveillance and polypectomy were higher than in the retrospective (IMRC) series, and were not reduced in path_MSH6 carriers. These findings were the opposite to those expected. CRC point incidence before 50 years of age was reduced in path_PMS2 carriers subjected to colonoscopy, but not significantly so. Keywords: Lynch Syndrome, Epidemiology, Prevention, Penetrance, Colorectal cancer, Segregation analysis, Prospective, Incidence, Over-diagnosis, Colonoscopy, Author(s): Pål Maller[sup.1], Toni Seppälä[sup.2,3,4], James G. Dowty[sup.5], Saskia Haupt[sup.6,7], Mev Dominguez-Valentin[sup.1], Lone Sunde[sup.8,9], Inge Bernstein[sup.10,11], Christoph Engel[sup.12], Stefan Aretz[sup.13], Maartje Nielsen[sup.14], Gabriel Capella[sup.15], Dafydd Gareth Evans[sup.16], John Burn[sup.17], Elke [...]

Published
2022
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17. An efficient strategy for evaluating new non-invasive screening tests for colorectal cancer: the guiding principles

Author

Bresalier, Robert S, primary, Senore, Carlo, additional, Young, Graeme P, additional, Allison, James, additional, Benamouzig, Robert, additional, Benton, Sally, additional, Bossuyt, Patrick M M, additional, Caro, Luis, additional, Carvalho, Beatriz, additional, Chiu, Han-Mo, additional, Coupé, Veerle M H, additional, de Klaver, Willemijn, additional, de Klerk, Clasine Maria, additional, Dekker, Evelien, additional, Dolwani, Sunil, additional, Fraser, Callum G, additional, Grady, William, additional, Guittet, Lydia, additional, Gupta, Samir, additional, Halloran, Stephen P, additional, Haug, Ulrike, additional, Hoff, Geir, additional, Itzkowitz, Steven, additional, Kortlever, Tim, additional, Koulaouzidis, Anastasios, additional, Ladabaum, Uri, additional, Lauby-Secretan, Beatrice, additional, Leja, Mārcis, additional, Levin, Bernard, additional, Levin, Theodore Robert, additional, Macrae, Finlay, additional, Meijer, Gerrit A, additional, Melson, Joshua, additional, O'Morain, Colm, additional, Parry, Susan, additional, Rabeneck, Linda, additional, Ransohoff, David F, additional, Sáenz, Roque, additional, Saito, Hiroshi, additional, Sanduleanu-Dascalescu, Silvia, additional, Schoen, Robert E, additional, Selby, Kevin, additional, Singh, Harminder, additional, Steele, Robert J C, additional, Sung, Joseph J Y, additional, Symonds, Erin Leigh, additional, and Winawer, Sidney J, additional

Published
2023
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18. Supplementary Data from Lynch Syndrome–Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry

Author

Walsh, Michael D., primary, Buchanan, Daniel D., primary, Cummings, Margaret C., primary, Pearson, Sally-Ann, primary, Arnold, Sven T., primary, Clendenning, Mark, primary, Walters, Rhiannon, primary, McKeone, Diane M., primary, Spurdle, Amanda B., primary, Hopper, John L., primary, Jenkins, Mark A., primary, Phillips, Kerry D., primary, Suthers, Graeme K., primary, George, Jill, primary, Goldblatt, Jack, primary, Muir, Amanda, primary, Tucker, Kathy, primary, Pelzer, Elise, primary, Gattas, Michael R., primary, Woodall, Sonja, primary, Parry, Susan, primary, Macrae, Finlay A., primary, Haile, Robert W., primary, Baron, John A., primary, Potter, John D., primary, Le Marchand, Loic, primary, Bapat, Bharati, primary, Thibodeau, Stephen N., primary, Lindor, Noralane M., primary, McGuckin, Michael A., primary, and Young, Joanne P., primary

Published
2023
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19. Data from Lynch Syndrome–Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry

Author

Walsh, Michael D., primary, Buchanan, Daniel D., primary, Cummings, Margaret C., primary, Pearson, Sally-Ann, primary, Arnold, Sven T., primary, Clendenning, Mark, primary, Walters, Rhiannon, primary, McKeone, Diane M., primary, Spurdle, Amanda B., primary, Hopper, John L., primary, Jenkins, Mark A., primary, Phillips, Kerry D., primary, Suthers, Graeme K., primary, George, Jill, primary, Goldblatt, Jack, primary, Muir, Amanda, primary, Tucker, Kathy, primary, Pelzer, Elise, primary, Gattas, Michael R., primary, Woodall, Sonja, primary, Parry, Susan, primary, Macrae, Finlay A., primary, Haile, Robert W., primary, Baron, John A., primary, Potter, John D., primary, Le Marchand, Loic, primary, Bapat, Bharati, primary, Thibodeau, Stephen N., primary, Lindor, Noralane M., primary, McGuckin, Michael A., primary, and Young, Joanne P., primary

Published
2023
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20. Redundant parasympathetic and sympathoadrenal mediation of increased glucagon secretion during insulin-induced hypoglycemia in conscious rats

Author

Havel, Peter J, Parry, Susan J, Stern, Judith S, Akpan, Jones O, Gingerich, Ronald L, Taborsky, Gerald J, and Curry, Donald L

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Neurosciences, Diabetes, Adrenal Glands, Animals, Blood Glucose, Epinephrine, Glucagon, Hypoglycemia, Insulin, Male, Norepinephrine, Pancreatic Polypeptide, Parasympathetic Nervous System, Radioimmunoassay, Rats, Rats, Sprague-Dawley, Sympathetic Nervous System, Clinical Sciences, Endocrinology & Metabolism, Clinical sciences
Abstract

Both the parasympathetic and sympathoadrenal inputs to the pancreas can stimulate glucagon release and are activated during hypoglycemia. However, blockade of only one branch of the autonomic nervous system may not reduce hypoglycemia-induced glucagon secretion, because the unblocked neural input is sufficient to mediate the glucagon response, ie, the neural inputs are redundant. Therefore, to determine if parasympathetic and sympathoadrenal activation redundantly mediate increased glucagon secretion during hypoglycemia, insulin was administered to conscious rats pretreated with a muscarinic antagonist (methylatropine, n = 7), combined alpha- and beta-adrenergic receptor blockade (tolazoline + propranolol, n = 5) or adrenergic blockade + methylatropine (n = 7). Insulin administration produced similar hypoglycemia in control and antagonist-treated rats (25 to 32 mg/dL). In control rats (n = 9), plasma immunoreactive glucagon (IRG) increased from a baseline level of 125 +/- 11 to 1,102 +/- 102 pg/mL during hypoglycemia (delta IRG = +977 +/- 98 pg/mL, P < .0005). The plasma IRG response was not significantly altered either by methylatropine (delta IRG = +677 +/- 141 pg/mL) or by adrenergic blockade (delta IRG = +1,374 +/- 314 pg/mL). However, the IRG response to hypoglycemia was reduced to 25% of the control value by the combination of adrenergic blockade + methylatropine (delta IRG = +250 +/- 83 pg/mL, P < .01 v control rats). These results suggest that the plasma glucagon response to hypoglycemia in conscious rats is predominantly the result of autonomic neural activation, and is redundantly mediated by the parasympathetic and sympathoadrenal divisions of the autonomic nervous system.

Published
1994

21. The characterization of radioimmunoassay for rat pancreatic polypeptide in serum

Author

Akpan, Jones O, Havel, Peter J, Parry, Susan J, Shalwitz, Robert A, and Gingerich, Ronald L

Subjects
Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Diabetes, Digestive Diseases, Animals, Antibody Specificity, Chromatography, Gel, Hypoglycemia, Male, Pancreatic Polypeptide, Radioimmunoassay, Rats, Rats, Inbred Strains, RAT, PANCREATIC POLYPEPTIDE, SPECIFIC RADIOIMMUNOASSAY, Medical and Health Sciences, Endocrinology & Metabolism, Medical biochemistry and metabolomics, Medicinal and biomolecular chemistry
Abstract

A radioimmunoassay for the measurement of rat pancreatic polypeptide (RPP) in serum or plasma has been developed and characterized using a new guinea-pig anti-rat-PP antibody. The assay provides a high degree of sensitivity and lacks cross-reactivity (CR less than 0.01%) to neuropeptide Y and peptide YY. It also does not interact with PPs of other species or peptide hormones namely, amylin, glucagon, human insulin, human-PP, human-proinsulin, rat C-peptide and rat insulin. The assay employs synthetic rat PP as standards from concentrations of 21-2100 pg/ml (i.e., 5-500 pM) and produces a sensitivity limit of 19 pg/ml (4.5 pM) PP at +/- 3 S.D. The intra- and interassay % coefficient of variations are 6.4% and 5.9%, respectively. The % recovery of RPP added to rat serum samples ranges from 98% to 103%. Assay of serum volumes ranging from 25 microliters to 100 microliters does not significantly alter the expected RPP level. The migration patterns of rat serum PP and that of a synthetic RPP are identical by Sephadex G-50 chromatographic analysis. The mean values of fasting and a 2 h post-feeding plasma RPP levels in normal rats are 40 +/- 2 and 80 +/- 10 pg/ml (9.5 pM and 19.0 pM), respectively. Rat-PP release during insulin induced hypoglycemia in conscious rats rises from 38 +/- 5 pg/ml to 261 +/- 34 pg/ml (9.0 to 62.1 pM, P less than 0.005) by 30 min. Additionally, the antibody used in this study cross-reacts well with mouse-PP as determined by linear serum dilution curves, thus making it useful in the measurement of murine-PP. In conclusion, we have developed and validated a sensitive and specific rat-PP assay. This assay provides a new tool for the reliable measurement of PP in physiologic studies using rat and mouse animal models.

Published
1992

23. Germline mutations inWNK2could be associated with serrated polyposis syndrome

Author

Soares de Lima, Yasmin, primary, Arnau-Collell, Coral, additional, Muñoz, Jenifer, additional, Herrera-Pariente, Cristina, additional, Moreira, Leticia, additional, Ocaña, Teresa, additional, Díaz-Gay, Marcos, additional, Franch-Expósito, Sebastià, additional, Cuatrecasas, Miriam, additional, Carballal, Sabela, additional, Lopez-Novo, Anael, additional, Moreno, Lorena, additional, Fernàndez, Guerau, additional, Díaz de Bustamante, Aranzazu, additional, Peters, Sophia, additional, Sommer, Anna K, additional, Spier, Isabel, additional, te Paske, Iris B A W, additional, van Herwaarden, Yasmijn J, additional, Castells, Antoni, additional, Bujanda, Luis, additional, Capellà, Gabriel, additional, Steinke-Lange, Verena, additional, Mahmood, Khalid, additional, Joo, JiHoon Eric, additional, Arnold, Julie, additional, Parry, Susan, additional, Macrae, Finlay A, additional, Winship, Ingrid M, additional, Rosty, Christophe, additional, Cubiella, Joaquin, additional, Rodríguez-Alcalde, Daniel, additional, Holinski-Feder, Elke, additional, de Voer, Richarda, additional, Buchanan, Daniel D, additional, Aretz, Stefan, additional, Ruiz-Ponte, Clara, additional, Valle, Laura, additional, Balaguer, Francesc, additional, Bonjoch, Laia, additional, and Castellvi-Bel, Sergi, additional

Published
2022
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24. Third Asia-Pacific consensus recommendations on colorectal cancer screening and postpolypectomy surveillance

Author

Sung, Joseph J Y, primary, Chiu, Han-Mo, additional, Lieberman, David, additional, Kuipers, Ernst J, additional, Rutter, Matthew D, additional, Macrae, Finlay, additional, Yeoh, Khay-Guan, additional, Ang, Tiing Leong, additional, Chong, Vui Heng, additional, John, Sneha, additional, Li, Jingnan, additional, Wu, Kaichun, additional, Ng, Simon S M, additional, Makharia, Govind K, additional, Abdullah, Murdani, additional, Kobayashi, Nozomu, additional, Sekiguchi, Masau, additional, Byeon, Jeong-Sik, additional, Kim, Hyun-Soo, additional, Parry, Susan, additional, Cabral-Prodigalidad, Patricia Anne I, additional, Wu, Deng-Chyang, additional, Khomvilai, Suparkij, additional, Lui, Rashid N, additional, Wong, Sunny, additional, Lin, Yu-Min, additional, and Dekker, E, additional

Published
2022
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26. Colorectal carcinomas with KRAS mutation are associated with distinctive morphological and molecular features

Author

Rosty, Christophe, Young, Joanne P, Walsh, Michael D, Clendenning, Mark, Walters, Rhiannon J, Pearson, Sally, Pavluk, Erika, Nagler, Belinda, Pakenas, David, Jass, Jeremy R, Jenkins, Mark A, Win, Aung Ko, Southey, Melissa C, Parry, Susan, Hopper, John L, Giles, Graham G, Williamson, Elizabeth, English, Dallas R, and Buchanan, Daniel D

Published
2013
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28. Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry

Author

Walsh, Michael D, Buchanan, Daniel D, Pearson, Sally-Ann, Clendenning, Mark, Jenkins, Mark A, Win, Aung Ko, Walters, Rhiannon J, Spring, Kevin J, Nagler, Belinda, Pavluk, Erika, Arnold, Sven T, Goldblatt, Jack, George, Jill, Suthers, Graeme K, Phillips, Kerry, Hopper, John L, Jass, Jeremy R, Baron, John A, Ahnen, Dennis J, Thibodeau, Stephen N, Lindor, Noralane, Parry, Susan, Walker, Neal I, Rosty, Christophe, and Young, Joanne P

Published
2012
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31. Additional file 1 of Body Mass Index, sex, non-steroidal anti-inflammatory drug medications, smoking and alcohol are differentially associated with World Health Organisation criteria and colorectal cancer risk in people with Serrated Polyposis Syndrome: an Australian case-control study

Author

Anthony, Emma, Reece, Jeanette C., Milanzi, Elasma, Joo, Jihoon E., Joseland, Sharelle, Clendenning, Mark, Whelan, Amanda, Parry, Susan, Arnold, Julie, Vijay, Varnika, Atkinson, Nathan, Hopper, John L., Win, Aung K., Jenkins, Mark A., Macrae, Finlay A., Winship, Ingrid M., Rosty, Christophe, and Buchanan, Daniel D.

Abstract

Additional file 1: Supplementary Table 1. Female Sub-analysis investigating the association between SPS and characteristics/ lifestyle factors. Supplementary Table 2. Female Sub-analysis investigating the association between WHO criteria I and characteristics/ lifestyle factors. Supplementary Table 3. Female Sub-analysis investigating the association between WHO criteria III and characteristics/ lifestyle factors. Supplementary Table 4. Female Sub-analysis investigating the association between both WHO criteria I and III and characteristics/ lifestyle factors. Supplementary Table 5. Female Sub-analysis investigating the association between CRC and characteristics/ lifestyle factors. Supplementary Table 6. Female Sub-analysis investigating the association between SPS patients with no CRC and characteristics/ lifestyle factors

Published
2022
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32. 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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35. Recommendations for a step-wise comparative approach to the evaluation of new screening tests for colorectal cancer

Author

Young, Graeme P., Senore, Carlo, Mandel, Jack S., Allison, James E., Atkin, Wendy S., Benamouzig, Robert, Bossuyt, Patrick M. M., Silva, Mahinda De, Guittet, Lydia, Halloran, Stephen P., Haug, Ulrike, Hoff, Geir, Itzkowitz, Steven H., Leja, Marcis, Levin, Bernard, Meijer, Gerrit A., OʼMorain, Colm A., Parry, Susan, Rabeneck, Linda, Rozen, Paul, Saito, Hiroshi, Schoen, Robert E., Seaman, Helen E., Steele, Robert J. C., Sung, Joseph J. Y., and Winawer, Sidney J.

Published
2016
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37. Variation in the Risk of Colorectal Cancer for Lynch Syndrome: A retrospective family cohort study

Author

Win, Aung Ko, Dowty, James G., Reece, Jeanette C., Lee, Grant, Templeton, Allyson S., Plazzer, John-Paul, Buchanan, Daniel D., Akagi, Kiwamu, Aksoy, Seçil, Alonso, Angel, Alvarez, Karin, Amor, David J., Ankathil, Ravindran, Aretz, Stefan, Arnold, Julie L., Aronson, Melyssa, Austin, Rachel, Backman, Ann-Sofie, Bajwa–ten Broeke, Sanne W., Barca-Tierno, Verónica, Barwell, Julian, Bernstein, Inge, Berthet, Pascaline, Betz, Beate, Bignon, Yves-Jean, Boisjoli, Talya, Bonadona, Valérie, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buecher, Bruno, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Capella, Gabriel, Caron, Olivier, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Cops, Elisa J., Coupier, Isabelle, Cruz-Correa, Marcia, de la Chapelle, Albert, de Wind, Niels, Dębniak, Tadeusz, Della Valle, Adriana, Delnatte, Capuccine, Dhooge, Marion, Dominguez-Valentin, Mev, Drouet, Youenn, Duijkers, Floor A., Engel, Christoph, Esperon, Patricia, Evans, D. Gareth, de Vargas, Aída Falcón, Figueiredo, Jane C, Foulkes, William, Fourme, Emmanuelle, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Gerdes, Anne-Marie, Gima, Lauren M., Giraud, Sophie, Goodwin, Annabel, Görgens, Heike, Green, Kate, Guillem, Jose, Guillén-Ponce, Carmen, Guimbaud, Roselyne, Guindalini, Rodrigo S. C., Half, Elizabeth E., Hall, Michael J, Hampel, Heather, Hansen, Thomas V. O., Heinimann, Karl, Hes, Frederik J., Hill, James, Ho, Judy W.C., Holinski-Feder, Elke, Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, James, Paul A., Jensen, Uffe B, John, Thomas, Juhari, Wan K.W., Kalady, Matthew, Kastrinos, Fay, Kloor, Matthias, Kohonen-Corish, Maija RJ, Krogh, Lotte N., Kupfer, Sonia S., Ladabaum, Uri, Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lasset, Christine, Latchford, Andrew, Laurent-Puig, Pierre, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, LeMarchand, Loic, Ligtenberg, Marjolijn, Lindor, Noralane, Loeffler, Markus, Longy, Michel, Lopez, Francisco, Lowery, Jan, Lubiński, Jan, Lucassen, Anneke M, Lynch, Patrick M., Malińska, Karolina, Matsubara, Nagahide, Mecklin, Jukka-Pekka, Møller, Pål, Monahan, Kevin, Morrison, Patrick J., Nattermann, Jacob, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Newcomb, Polly A., Ngeow, Joanne, Nichols, Cassandra, Nielsen, Maartje, Nixon, Dawn M., Nogues, Catherine, Okkels, Henrik, Olschwang, Sylviane, Pachter, Nicholas, Pai, Rish K., Palmero, Edenir I., Pande, Mala, Parry, Susan, Patel, Swati G., Pearlman, Rachel, Perne, Claudia, Pineda, Marta, Poplawski, Nicola K, Pylvänäinen, Kirsi, Qiu, Jay, Rahner, Nils, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Reis, Rui M., Ricciardiello, Luigi, Rogoża-Janiszewska, Emilia, Rosty, Christophe, Samadder, N. Jewel, Sampson, Julian R., Schackert, Hans K., Schmiegel, Wolff, Schulmann, Karsten, Schuster, Helène, Scott, Rodney, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Snyder, Carrie, Solomon, Ilana B., Soto, Jose Luis, Southey, Melissa C., Spigelman, Allan, Spirandelli, Florencia, Spurdle, Amanda B., Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Susman, Rachel, Syngal, Sapna, Tanakaya, Kohji, Tezcan, Gülçin, Therkildsen, Christina, Thibodeau, Steve, Tomita, Naohiro, Tucker, Katherine M., Tunca, Berrin, Turchetti, Daniela, Uhrhammer, Nancy, Utsunomiya, Joji, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vangala, Deepak B., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Wadt, Karin A. W., Ward, Robyn L., Weitz, Jürgen, Weitzel, Jeffrey N., Williams, Heinric, Winship, Ingrid, Wise, Paul E., Wods, Julie, Woods, Michael O., Yamaguchi, Tatsuro, Zachariae, Silke, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Macrae, Finlay A., Möslein, Gabriela, and Jenkins, Mark A.

Subjects
Article
Abstract

BACKGROUND: Current clinical practice guidelines for carriers of pathogenic variants of DNA mismatch repair genes (Lynch syndrome) are based on the average age-specific cumulative risk (penetrance) of colorectal cancer for all carriers of pathogenic variants in the same gene. We aimed to estimate how much penetrance varies between carriers of pathogenic variants in the same gene by sex and continent of residence of the carrier. METHODS: We studied 79,809 relatives from 5,255 families, of at least three relatives, in which at least one was a confirmed carrier of a pathogenic or likely pathogenic variant in a mismatch repair gene (1,829 MLH1, 2,179 MSH2, 798 MSH6, 449 PMS2), recruited in 15 countries from North America, Europe and Australasia by the collaborative centres of the International Mismatch Repair Consortium. We used modified segregation analysis conditioned on ascertainment to estimate the average penetrance and modelled unmeasured polygenic factors to estimate the variation in penetrance of colorectal cancer. The existence of familial risk factors modifying colorectal cancer risk for Lynch syndrome carriers was tested using a Wald p-value for the null hypothesis that the polygenic standard deviation is zero. FINDINGS: There was strong evidence of the existence of familial risk factors modifying colorectal cancer risk for Lynch syndrome carriers (pT variant. The variation was more prominent for MLH1 and MSH2 variant carriers; depending on gene, sex, and continent, with 7–56% of carriers having a risk of colorectal cancer to age 80 of less than 20%, and 9–44% having a risk of more than 80%, while only 10–19% had a risk of 40–60%. INTERPRETATION: Our study findings highlight the important role of risk modifiers, which could lead to personalised risk assessment for precision prevention and early detection of colorectal cancer for Lynch syndrome.

Published
2021

38. Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer

Author

Chan, James M., primary, Clendenning, Mark, additional, Joseland, Sharelle, additional, Georgeson, Peter, additional, Mahmood, Khalid, additional, Walker, Romy, additional, Como, Julia, additional, Joo, Jihoon E., additional, Preston, Susan, additional, Hutchinson, Ryan A., additional, Pope, Bernard J., additional, Metz, Andrew, additional, Beard, Catherine, additional, Purvis, Rebecca, additional, Arnold, Julie, additional, Vijay, Varnika, additional, Konycheva, Galina, additional, Atkinson, Nathan, additional, Parry, Susan, additional, Jenkins, Mark A., additional, Macrae, Finlay A., additional, Rosty, Christophe, additional, Winship, Ingrid M., additional, and Buchanan, Daniel D., additional

Published
2021
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40. Risk of Metachronous Colon Cancer Following Surgery for Rectal Cancer in Mismatch Repair Gene Mutation Carriers

Author

Win, Aung Ko, Parry, Susan, Parry, Bryan, Kalady, Matthew F., Macrae, Finlay A., Ahnen, Dennis J., Young, Graeme P., Lipton, Lara, Winship, Ingrid, Boussioutas, Alex, Young, Joanne P., Buchanan, Daniel D., Arnold, Julie, Le Marchand, Loïc, Newcomb, Polly A., Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Hopper, John L., and Jenkins, Mark A.

Published
2013
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42. Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)

Author

Roberts, Aedan, Nancarrow, Derek, Clendenning, Mark, Buchanan, Daniel D., Jenkins, Mark A., Duggan, David, Taverna, Darin, McKeone, Diane, Walters, Rhiannon, Walsh, Michael D., Young, Bruce W., Jass, Jeremy R., Rosty, Christophe, Gattas, Michael, Pelzer, Elise, Hopper, John L., Goldblatt, Jack, George, Jill, Suthers, Graeme K., Phillips, Kerry, Parry, Susan, Woodall, Sonja, Arnold, Julie, Tucker, Kathy, Muir, Amanda, Drini, Musa, Macrae, Finlay, Newcomb, Polly, Potter, John D., Pavluk, Erika, Lindblom, Annika, and Young, Joanne P.

Published
2011
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43. Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study

Author

Buchanan, Daniel D., Sweet, Kevin, Drini, Musa, Jenkins, Mark A., Win, Aung Ko, Gattas, Michael, Walsh, Michael D., Clendenning, Mark, McKeone, Diane, Walters, Rhiannon, Roberts, Aedan, Young, Alasdair, Hampel, Heather, Hopper, John L., Goldblatt, Jack, George, Jill, Suthers, Graeme K., Phillips, Kerry, Young, Graeme P., Chow, Elizabeth, Parry, Susan, Woodall, Sonja, Tucker, Kathy, Muir, Amanda, Field, Michael, Greening, Sian, Gallinger, Steven, Green, Jane, Woods, Michael O., Spaetgens, Renee, de la Chapelle, Albert, Macrae, Finlay, Walker, Neal I., Jass, Jeremy R., and Young, Joanne P.

Published
2010
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44. Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis

Author

Walsh, Michael D., Buchanan, Daniel D., Walters, Rhiannon, Roberts, Aedan, Arnold, Sven, McKeone, Diane, Clendenning, Mark, Ruszkiewicz, Andrew R., Jenkins, Mark A., Hopper, John L., Goldblatt, Jack, George, Jillian, Suthers, Graeme K., Phillips, Kerry, Young, Graeme P., Macrae, Finlay, Drini, Musa, Woods, Michael O., Parry, Susan, Jass, Jeremy R., and Young, Joanne P.

Published
2009
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46. Germline mutations in WNK2could be associated with serrated polyposis syndrome

Author

Soares de Lima, Yasmin, Arnau-Collell, Coral, Muñoz, Jenifer, Herrera-Pariente, Cristina, Moreira, Leticia, Ocaña, Teresa, Díaz-Gay, Marcos, Franch-Expósito, Sebastià, Cuatrecasas, Miriam, Carballal, Sabela, Lopez-Novo, Anael, Moreno, Lorena, Fernàndez, Guerau, Díaz de Bustamante, Aranzazu, Peters, Sophia, Sommer, Anna K, Spier, Isabel, te Paske, Iris B A W, van Herwaarden, Yasmijn J, Castells, Antoni, Bujanda, Luis, Capellà, Gabriel, Steinke-Lange, Verena, Mahmood, Khalid, Joo, JiHoon Eric, Arnold, Julie, Parry, Susan, Macrae, Finlay A, Winship, Ingrid M, Rosty, Christophe, Cubiella, Joaquin, Rodríguez-Alcalde, Daniel, Holinski-Feder, Elke, de Voer, Richarda, Buchanan, Daniel D, Aretz, Stefan, Ruiz-Ponte, Clara, Valle, Laura, Balaguer, Francesc, Bonjoch, Laia, and Castellvi-Bel, Sergi

Abstract

BackgroundPatients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for colorectal cancer. SPS inherited genetic basis is mostly unknown. We aimed to identify new germline predisposition factors for SPS by functionally evaluating a candidate gene and replicating it in additional SPS cohorts.MethodsAfter a previous whole-exome sequencing in 39 SPS patients from 16 families (discovery cohort), we sequenced specific genes in an independent validation cohort of 211 unrelated SPS cases. Additional external replication was also available in 297 SPS cases. The WNK2gene was disrupted in HT-29 cells by gene editing, and WNK2variants were transfected using a lentiviral delivery system. Cells were analysed by immunoblots, real-time PCR and functional assays monitoring the mitogen-activated protein kinase (MAPK) pathway, cell cycle progression, survival and adhesion.ResultsWe identified 2 rare germline variants in the WNK2gene in the discovery cohort, 3 additional variants in the validation cohort and 10 other variants in the external cohorts. Variants c.2105C>T (p.Pro702Leu), c.4820C>T (p.Ala1607Val) and c.6157G>A (p.Val2053Ile) were functionally characterised, displaying higher levels of phospho-PAK1/2, phospho-ERK1/2, CCND1, clonogenic capacity and MMP2.ConclusionAfter whole-exome sequencing in SPS cases with familial aggregation and replication of results in additional cohorts, we identified rare germline variants in the WNK2gene. Functional studies suggested germline WNK2variants affect protein function in the context of the MAPK pathway, a molecular hallmark in this disease.

Published
2023
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47. Serrated pathway colorectal cancer in the population: genetic consideration

Author

Young, Joanne, Jenkins, Mark, Parry, Susan, Young, Bruce, Nancarrow, Derek, English, Dallas, Giles, Graham, and Jass, Jeremy

Subjects
Colorectal cancer -- Genetic aspects, Colorectal cancer -- Development and progression, Intestinal polyps -- Genetic aspects, Intestinal polyps -- Complications and side effects, Gene mutations -- Physiological aspects, Health
Published
2007

48. Critical evaluation of the hcr-20 violence risk assessment:: The perception of persons with abi of their involvement in risk decision making

Author

Williams, Rachael, Parry, Susan, Richardson, Clare, Coetzer, Rudi, Williams, Rachael, Parry, Susan, Richardson, Clare, and Coetzer, Rudi

Abstract

This idiographic, qualitative research sought to investigate the perceptions of patients with ABI regarding the utility of a collaborative process when completing the HCR-20 risk assessment. Four male participants detained under the Mental Health Act (1983, amended 2007), in medium- and low-secure facilities completed semi-structured interviews to allow for rich, detailed accounts to be obtained. Anonymity and confidentiality of participant information was maintained throughout, including specific details of the hospital and violent behaviours they have portrayed. An inductive thematic analysis identified three themes at the semantic level forming the basis of the discussion. The themes identified were; ‘comprehension of the HCR-20 assessment and effective communication’, ‘benefits of assessment engagement and motivation to change’, and ‘externalisation of behaviour, responsibility and control’. The findings led to recommendations for professional consideration that are believed to improve clinical-practice, specifically regarding the way HCR-20 risk assessments are conducted within medium- and low-secure hospital settings., Esta pesquisa qualitativa ideográfica buscou investigar as percepções de pacientes com lesão cerebral adquirida envolvendo a utilidade do processo colaborativo quando completam o HCR-20 para avaliação do risco de violência. Quatro homens participantes detidos sob a Lei de Saúde Mental inglesa (de 1983, alterada em 2007), em unidades de média e baixa segurança, preencheram entrevistas semiestruturadas permitindo que relatos ricos e detalhados fossem obtidos. O anonimato e a confidencialidade das informações dos participantes foram mantidos ao longo de todo o processo, incluindo detalhes específicos do comportamento hospitalar e do comportamento violento perpetrados por eles. Uma análise indutiva temática identificou três temas de nível semântico formando a base desta discussão. Os temas identificados foram: ‘a compreensão da avaliação HCR-20 e a comunicação efetiva’, ‘benefícios do engajamento avaliativo e motivação para mudança’, e ‘externalização do comportamento, responsabilidade e controle’. Os achados levaram a recomendações para uma consideração profissional que acredita-se poder impulsionar a prática clínica, especialmente no que se refere à forma com que as avaliação de risco pelo HCR-20 são conduzidas dentro das configurações hospitalares de baixa e média segurança., Esta investigación cualitativa ideográfica ha buscado estudiar las percepciones de los pacientes con lesión cerebral adquirida acerca de la utilidad del proceso colaborativo cuando son sometidos al HCR-20 para la evaluación del riesgo de la violencia. Cuatro participantes detenidos por la Ley de Salud Mental inglesa (de 1983, cambiada en 2007), en instalaciones de media y baja seguridad, completaron entrevistas semiestructuradas resultando en relatos ricos y detallados. El anonimato y la confidencialidad de las informaciones de los participantes fueron mantenidos al largo de todo el proceso, incluyendo detalles específicos del comportamiento hospitalario y del comportamiento violento de ellos. Un análisis temático inductivo ha identificado tres temas de nivel semántico formando la base de esta discusión. Los temas identificados fueron: ‘la comprensión de la evaluación HCR-20 y la comunicación efectiva’, ‘los beneficios de la participación evaluativa y la motivación para el cambio’, y ‘la externalización del comportamiento, la responsabilidad y el control’. Los resultados lograron recomendaciones para una consideración profesional que se cree permitir perfeccionar la práctica clínica, especialmente en lo que se refiere a la forma con que las evaluaciones de riesgo por el HCR-20 son conducidas dentro de las configuraciones hospitalarias de baja y media seguridad.

Published
2020

50. Colorectal Cancer Screening in the Novel Coronavirus Disease-2019 Era

Author

Dekker, Evelien, primary, Chiu, Han-Mo, additional, Lansdorp-Vogelaar, Iris, additional, Caro, Luis Ernesto, additional, Dominitz, Jason A., additional, Halloran, Stephen, additional, Hassan, Cesare, additional, Ismael, Julia, additional, Jover, Rodrigo, additional, Kaminski, Michal F., additional, Kortlever, Tim, additional, Kuipers, Ernst J., additional, Levin, Theodore R., additional, Matsuda, Takahisa, additional, Mlakar, Dominika Novak, additional, Oliveira, Lix A.R., additional, Parry, Susan, additional, Rabeneck, Linda, additional, Rutter, Matthew, additional, Sáenz, Roque, additional, Senore, Carlo, additional, Young, Graeme P., additional, and Zhang, Ning, additional

Published
2020
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