1,316 results on '"Macrae, Finlay"'
Search Results
2. Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes
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Møller, Pål, Haupt, Saskia, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R., Sunde, Lone, Seppälä, Toni, Burn, John, Bernstein, Inge, Capella, Gabriel, Evans, D. Gareth, Lindblom, Annika, Winship, Ingrid, Macrae, Finlay, Katz, Lior, Laish, Ido, Vainer, Elez, Monahan, Kevin, Half, Elizabeth, Horisberger, Karoline, da Silva, Leandro Apolinário, Heuveline, Vincent, Therkildsen, Christina, Lautrup, Charlotte, Klarskov, Louise L, Cavestro, Giulia Martina, Möslein, Gabriela, Hovig, Eivind, and Dominguez-Valentin, Mev
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- 2024
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3. Intratumoral presence of the genotoxic gut bacteria pks+E. coli, Enterotoxigenic Bacteroides fragilis, and Fusobacterium nucleatum and their association with clinicopathological and molecular features of colorectal cancer
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Joo, Jihoon E., Chu, Yen Lin, Georgeson, Peter, Walker, Romy, Mahmood, Khalid, Clendenning, Mark, Meyers, Aaron L., Como, Julia, Joseland, Sharelle, Preston, Susan G., Diepenhorst, Natalie, Toner, Julie, Ingle, Danielle J., Sherry, Norelle L., Metz, Andrew, Lynch, Brigid M., Milne, Roger L., Southey, Melissa C., Hopper, John L., Win, Aung Ko, Macrae, Finlay A., Winship, Ingrid M., Rosty, Christophe, Jenkins, Mark A., and Buchanan, Daniel D.
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- 2024
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4. Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family
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Chan, James M., Clendenning, Mark, Joseland, Sharelle, Georgeson, Peter, Mahmood, Khalid, Joo, Jihoon E., Walker, Romy, Como, Julia, Preston, Susan, Chai, Shuyi Marci, Chu, Yen Lin, Meyers, Aaron L., Pope, Bernard J., Duggan, David, Fink, J. Lynn, Macrae, Finlay A., Rosty, Christophe, Winship, Ingrid M., Jenkins, Mark A., and Buchanan, Daniel D.
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- 2024
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5. Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS
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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
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- 2024
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6. A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report
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Walker, Romy, Clendenning, Mark, Joo, Jihoon E., Xue, Jessie, Mahmood, Khalid, Georgeson, Peter, Como, Julia, Joseland, Sharelle, Preston, Susan G., Chan, James M., Jenkins, Mark A., Rosty, Christophe, Macrae, Finlay A., Di Palma, Stephanie, Campbell, Ainsley, Winship, Ingrid M., and Buchanan, Daniel D.
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- 2023
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7. Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer
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Papadimitriou, Nikos, Kim, Andre, Kawaguchi, Eric S., Morrison, John, Diez-Obrero, Virginia, Albanes, Demetrius, Berndt, Sonja I., Bézieau, Stéphane, Bien, Stephanie A., Bishop, D Timothy, Bouras, Emmanouil, Brenner, Hermann, Buchanan, Daniel D., Campbell, Peter T., Carreras-Torres, Robert, Chan, Andrew T., Chang-Claude, Jenny, Conti, David V., Devall, Matthew A., Dimou, Niki, Drew, David A., Gruber, Stephen B., Harrison, Tabitha A., Hoffmeister, Michael, Huyghe, Jeroen R., Joshi, Amit D., Keku, Temitope O., Kundaje, Anshul, Küry, Sébastien, Le Marchand, Loic, Lewinger, Juan Pablo, Li, Li, Lynch, Brigid M., Moreno, Victor, Newton, Christina C., Obón-Santacana, Mireia, Ose, Jennifer, Pellatt, Andrew J., Peoples, Anita R., Platz, Elizabeth A., Qu, Conghui, Rennert, Gad, Ruiz-Narvaez, Edward, Shcherbina, Anna, Stern, Mariana C., Su, Yu-Ru, Thomas, Duncan C., Thomas, Claire E., Tian, Yu, Tsilidis, Konstantinos K., Ulrich, Cornelia M., Um, Caroline Y., Visvanathan, Kala, Wang, Jun, White, Emily, Woods, Michael O., Schmit, Stephanie L., Macrae, Finlay, Potter, John D., Hopper, John L., Peters, Ulrike, Murphy, Neil, Hsu, Li, Gunter, Marc J., and Gauderman, W. James
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- 2024
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8. SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome
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Cao, Kimberley, Plazzer, John-Paul, and Macrae, Finlay
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- 2023
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9. SMARTERscreen protocol: a three-arm cluster randomised controlled trial of patient SMS messaging in general practice to increase participation in the Australian National Bowel Cancer Screening Program
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McIntosh, Jennifer G., Emery, Jon D., Wood, Anna, Chondros, Patty, Goodwin, Belinda C., Trevena, Judy, Wilson, Carlene, Chang, Shanton, Hocking, Jane, Campbell, Tina, Macrae, Finlay, Milley, Kristi, Lew, Jie-Bin, Nightingale, Claire, Dixon, Ian, Castelli, Makala, Lee, Nicholas, Innes, Lyle, Jolley, Tamara, Fletcher, Sabine, Buchanan, Lyn, Doncovio, Sally, Broun, Kate, Austin, Glenn, Jiang, Joyce, and Jenkins, Mark A.
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- 2023
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10. A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome
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Walker, Romy, Mahmood, Khalid, Joo, Jihoon E., Clendenning, Mark, Georgeson, Peter, Como, Julia, Joseland, Sharelle, Preston, Susan G., Antill, Yoland, Austin, Rachel, Boussioutas, Alex, Bowman, Michelle, Burke, Jo, Campbell, Ainsley, Daneshvar, Simin, Edwards, Emma, Gleeson, Margaret, Goodwin, Annabel, Harris, Marion T., Henderson, Alex, Higgins, Megan, Hopper, John L., Hutchinson, Ryan A., Ip, Emilia, Isbister, Joanne, Kasem, Kais, Marfan, Helen, Milnes, Di, Ng, Annabelle, Nichols, Cassandra, O’Connell, Shona, Pachter, Nicholas, Pope, Bernard J., Poplawski, Nicola, Ragunathan, Abiramy, Smyth, Courtney, Spigelman, Allan, Storey, Kirsty, Susman, Rachel, Taylor, Jessica A., Warwick, Linda, Wilding, Mathilda, Williams, Rachel, Win, Aung K., Walsh, Michael D., Macrae, Finlay A., Jenkins, Mark A., Rosty, Christophe, Winship, Ingrid M., and Buchanan, Daniel D.
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- 2023
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11. Balancing the burden and benefits of colonoscopy in Lynch Syndrome
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Macrae, Finlay
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- 2023
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12. Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated 'Big Bang' pathway to CRC in three of the four Lynch syndromes
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Maller, Pål, Haupt, Saskia, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R., Sunde, Lone, Seppälä, Toni, Burn, John, Bernstein, Inge, Capella, Gabriel, Evans, D. Gareth, Lindblom, Annika, Winship, Ingrid, Macrae, Finlay, Katz, Lior, Laish, Ido, Vainer, Elez, Monahan, Kevin, Half, Elizabeth, Horisberger, Karoline, da Silva, Leandro Apolinário, Heuveline, Vincent, Therkildsen, Christina, Lautrup, Charlotte, Klarskov, Louise L, Cavestro, Giulia Martina, Möslein, Gabriela, Hovig, Eivind, and Dominguez-Valentin, Mev
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EPUB (Standard) ,Colonoscopy -- Analysis ,Health - Abstract
Background Colorectal cancers (CRCs) in the Lynch syndromes have been assumed to emerge through an accelerated adenoma-carcinoma pathway. In this model adenomas with deficient mismatch repair have an increased probability of acquiring additional cancer driver mutation(s) resulting in more rapid progression to malignancy. If this model was accurate, the success of colonoscopy in preventing CRC would be a function of the intervals between colonoscopies and mean sojourn time of detectable adenomas. Contrary to expectations, colonoscopy did not decrease incidence of CRC in the Lynch syndromes and shorter colonoscopy intervals have not been effective in reducing CRC incidence. The prospective Lynch Syndrome Database (PLSD) was designed to examine these issues in carriers of pathogenic variants of the mis-match repair (path_MMR) genes. Materials and methods We examined the CRC and colorectal adenoma incidences in 3,574 path_MLH1, path_MSH2, path_MSH6 and path_PMS2 carriers subjected to regular colonoscopy with polypectomy, and considered the results based on sojourn times and stochastic probability paradigms. Results Most of the path_MMR carriers in each genetic group had no adenomas. There was no association between incidences of CRC and the presence of adenomas. There was no CRC observed in path_PMS2 carriers. Conclusions Colonoscopy prevented CRC in path_PMS2 carriers but not in the others. Our findings are consistent with colonoscopy surveillance blocking the adenoma-carcinoma pathway by removing identified adenomas which might otherwise become CRCs. However, in the other carriers most CRCs likely arised from dMMR cells in the crypts that have an increased mutation rate with increased stochastic chaotic probabilities for mutations. Therefore, this mechanism, that may be associated with no or only a short sojourn time of MSI tumours as adenomas, could explain the findings in our previous and current reports. Keywords: MSI, MLH1, MSH2, MSH6, PMS2, dMMR, Lynch syndromes, Colorectal, cancer, Adenoma, Colonoscopy, Sojourn time, Author(s): Pål Maller[sup.1], Saskia Haupt[sup.2,3], Aysel Ahadova[sup.4,5], Matthias Kloor[sup.4,5], Julian R. Sampson[sup.6], Lone Sunde[sup.7,8,9], Toni Seppälä[sup.10,11,12], John Burn[sup.13], Inge Bernstein[sup.14,15], Gabriel Capella[sup.16], D. Gareth Evans[sup.17], Annika Lindblom[sup.18,19], Ingrid Winship[sup.20,21], Finlay [...]
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- 2024
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13. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
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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
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- 2024
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14. Potential impact of family history–based screening guidelines on the detection of early‐onset colorectal cancer
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Gupta, Samir, Bharti, Balambal, Ahnen, Dennis J, Buchanan, Daniel D, Cheng, Iona C, Cotterchio, Michelle, Figueiredo, Jane C, Gallinger, Steven J, Haile, Robert W, Jenkins, Mark A, Lindor, Noralane M, Macrae, Finlay A, Le Marchand, Loïc, Newcomb, Polly A, Thibodeau, Stephen N, Win, Aung Ko, and Martinez, Maria Elena
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Prevention ,Cancer ,Health Services ,Digestive Diseases ,Aging ,Clinical Research ,Colo-Rectal Cancer ,4.2 Evaluation of markers and technologies ,Detection ,screening and diagnosis ,4.4 Population screening ,Adult ,Age Factors ,Age of Onset ,Case-Control Studies ,Colorectal Neoplasms ,Early Detection of Cancer ,Family Health ,Female ,Humans ,Male ,Middle Aged ,Practice Guidelines as Topic ,Retrospective Studies ,Sensitivity and Specificity ,case-control study ,family history ,guidelines ,sensitivity ,specificity ,young-onset colorectal cancer ,Oncology and Carcinogenesis ,Public Health and Health Services ,Oncology & Carcinogenesis - Abstract
BackgroundInitiating screening at an earlier age based on cancer family history is one of the primary recommended strategies for the prevention and detection of early-onset colorectal cancer (EOCRC), but data supporting the effectiveness of this approach are limited. The authors assessed the performance of family history-based guidelines for identifying individuals with EOCRC.MethodsThe authors conducted a population-based, case-control study of individuals aged 40 to 49 years with (2473 individuals) and without (772 individuals) incident CRC in the Colon Cancer Family Registry from 1998 through 2007. They estimated the sensitivity and specificity of family history-based criteria jointly recommended by the American Cancer Society, the US Multi-Society Task Force on CRC, and the American College of Radiology in 2008 for early screening, and the age at which each participant could have been recommended screening initiation if these criteria had been applied.ResultsFamily history-based early screening criteria were met by approximately 25% of cases (614 of 2473 cases) and 10% of controls (74 of 772 controls), with a sensitivity of 25% and a specificity of 90% for identifying EOCRC cases aged 40 to 49 years. Among 614 individuals meeting early screening criteria, 98.4% could have been recommended screening initiation at an age younger than the observed age of diagnosis.ConclusionsOf CRC cases aged 40 to 49 years, 1 in 4 met family history-based early screening criteria, and nearly all cases who met these criteria could have had CRC diagnosed earlier (or possibly even prevented) if earlier screening had been implemented as per family history-based guidelines. Additional strategies are needed to improve the detection and prevention of EOCRC for individuals not meeting family history criteria for early screening.
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- 2020
15. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
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Dominguez-Valentin, Mev, Haupt, Saskia, Seppälä, Toni T., Sampson, Julian R., Sunde, Lone, Bernstein, Inge, Jenkins, Mark A., Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Balaguer, Francesc, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Della Valle, Adriana, Heinimann, Karl, Dębniak, Tadeusz, Fruscio, Robert, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Katz, Lior H., Laish, Ido, Vainer, Elez, Vaccaro, Carlos, Carraro, Dirce Maria, Monahan, Kevin, Half, Elizabeth, Stakelum, Aine, Winter, Des, Kennelly, Rory, Gluck, Nathan, Sheth, Harsh, Abu-Freha, Naim, Greenblatt, Marc, Rossi, Benedito Mauro, Bohorquez, Mabel, Cavestro, Giulia Martina, Lino-Silva, Leonardo S., Horisberger, Karoline, Tibiletti, Maria Grazia, Nascimento, Ivana do, Thomas, Huw, Rossi, Norma Teresa, Apolinário da Silva, Leandro, Zaránd, Attila, Ruiz-Bañobre, Juan, Heuveline, Vincent, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Therkildsen, Christina, Madsen, Mia Gebauer, Burgdorf, Stefan Kobbelgaard, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Schröck, Evelin, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, Redler, Silke, Büttner, Reinhard, Weitz, Jürgen, Pineda, Marta, Duenas, Nuria, Vidal, Joan Brunet, Moreira, Leticia, Sánchez, Ariadna, Hovig, Eivind, Nakken, Sigve, Green, Kate, Lalloo, Fiona, Hill, James, Crosbie, Emma, Mints, Miriam, Goldberg, Yael, Tjandra, Douglas, ten Broeke, Sanne W., Kariv, Revital, Rosner, Guy, Advani, Suresh H., Thomas, Lidiya, Shah, Pankaj, Shah, Mithun, Neffa, Florencia, Esperon, Patricia, Pavicic, Walter, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia Alejandra, Moslein, Gabriela, and Moller, Pål
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- 2023
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16. Guselkumab plus golimumab combination therapy versus guselkumab or golimumab monotherapy in patients with ulcerative colitis (VEGA): a randomised, double-blind, controlled, phase 2, proof-of-concept trial
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Tkachev, Alexander, Kalimullina, Dilara, Petryka, Robert, Osipenko, Marina, Tsarynna, Nataliia, Bilianskyi, Leonid, Kleczkowski, Dariusz, Yurkiv, Andrii, Woynarowski, Marek, Abrahamovych, Orest, Ivanishyn, Olha, Rydzewska, Grazyna, Kierkus, Jaroslaw, Petrova, Elina, Vasilevskaya, Olga, Afanasieva, Halyna, Francesconi, Carlos, Leszczyszyn, Jaroslaw, Bunkova, Elena, Platonov, Dmitry, Datsenko, Olena, Gridnyev, Oleksii, Hospodarsky, Ihor, Prystupa, Liudmyla, Stanislavchuk, Mykola, Pershko, Anatoly, Shchukina, Oksana, Simanenkov, Vladimir, Golovchenko, Oleksandr, Holderman, William, Lasa, Juan, Begun, Jakob, de Lourdes de Abreu Ferrari, Maria, Lopez, Pedro, Obrezan, Andrey, Farooq, Shiraz, Tiongco, Felix, Novillo, Abel, Tron, Emiliano, Macrae, Finlay, Leong, Rupert, Yukie Sassaki, Ligia, Zaltman, Cyrla, Kaiser Junior, Roberto, Stallmach, Andreas, Klaus, Jochen, Martinez, Manuel, Ruiz, Azalia, Abdulkhakov, Rustem, Sharma, Vishvinder, Korman, Louis, Lord, James, Patel, Bhaktasharan, Ritter, Timothy, Feagan, Brian G, Sands, Bruce E, Sandborn, William J, Germinaro, Matthew, Vetter, Marion, Shao, Jie, Sheng, Shihong, Johanns, Jewel, and Panés, Julián
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- 2023
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17. Can butyrate prevent colon cancer? The AusFAP study: A randomised, crossover clinical trial
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Clarke, Julie, Boussioutas, Alex, Flanders, Brooke, Lockett, Trevor, Harrap, Karen, Saunders, Ian, Lynch, Patrick, Appleyard, Mark, Spigelman, Allan, Cameron, Don, and Macrae, Finlay
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- 2023
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18. Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer
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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.
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- 2022
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19. Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures
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Georgeson, Peter, Harrison, Tabitha A., Pope, Bernard J., Zaidi, Syed H., Qu, Conghui, Steinfelder, Robert S., Lin, Yi, Joo, Jihoon E., Mahmood, Khalid, Clendenning, Mark, Walker, Romy, Amitay, Efrat L., Berndt, Sonja I., Brenner, Hermann, Campbell, Peter T., Cao, Yin, Chan, Andrew T., Chang-Claude, Jenny, Doheny, Kimberly F., Drew, David A., Figueiredo, Jane C., French, Amy J., Gallinger, Steven, Giannakis, Marios, Giles, Graham G., Gsur, Andrea, Gunter, Marc J., Hoffmeister, Michael, Hsu, Li, Huang, Wen-Yi, Limburg, Paul, Manson, JoAnn E., Moreno, Victor, Nassir, Rami, Nowak, Jonathan A., Obón-Santacana, Mireia, Ogino, Shuji, Phipps, Amanda I., Potter, John D., Schoen, Robert E., Sun, Wei, Toland, Amanda E., Trinh, Quang M., Ugai, Tomotaka, Macrae, Finlay A., Rosty, Christophe, Hudson, Thomas J., Jenkins, Mark A., Thibodeau, Stephen N., Winship, Ingrid M., Peters, Ulrike, and Buchanan, Daniel D.
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- 2022
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20. 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
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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.
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- 2022
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21. A scoping review and meta-analysis on the prevalence of pan-tumour biomarkers (dMMR, MSI, high TMB) in different solid tumours
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Kang, Yoon-Jung, O’Haire, Sophie, Franchini, Fanny, IJzerman, Maarten, Zalcberg, John, Macrae, Finlay, Canfell, Karen, and Steinberg, Julia
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- 2022
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22. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
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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.
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- 2022
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23. The SCRIPT trial: study protocol for a randomised controlled trial of a polygenic risk score to tailor colorectal cancer screening in primary care
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Saya, Sibel, Boyd, Lucy, Chondros, Patty, McNamara, Mairead, King, Michelle, Milton, Shakira, Lourenco, Richard De Abreu, Clark, Malcolm, Fishman, George, Marker, Julie, Ostroff, Cheri, Allman, Richard, Walter, Fiona M., Buchanan, Daniel, Winship, Ingrid, McIntosh, Jennifer, Macrae, Finlay, Jenkins, Mark, and Emery, Jon
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- 2022
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24. Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals
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Steinberg, Julia, Chan, Priscilla, Hogden, Emily, Tiernan, Gabriella, Morrow, April, Kang, Yoon-Jung, He, Emily, Venchiarutti, Rebecca, Titterton, Leanna, Sankey, Lucien, Pearn, Amy, Nichols, Cassandra, McKay, Skye, Hayward, Anne, Egoroff, Natasha, Engel, Alexander, Gibbs, Peter, Goodwin, Annabel, Harris, Marion, Kench, James G, Pachter, Nicholas, Parkinson, Bonny, Pockney, Peter, Ragunathan, Abiramy, Smyth, Courtney, Solomon, Michael, Steffens, Daniel, Toh, James Wei Tatt, Wallace, Marina, Canfell, Karen, Gill, Anthony, Macrae, Finlay, Tucker, Kathy, and Taylor, Natalie
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- 2022
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25. Worldwide prevalence of Lynch syndrome in patients with colorectal cancer: Systematic review and meta-analysis
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Abu-Ghazaleh, Nadine, Kaushik, Varun, Gorelik, Alexandra, Jenkins, Mark, and Macrae, Finlay
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- 2022
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26. Phenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 Cases.
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Thet, Monica, Plazzer, John-Paul, Capella, Gabriel, Latchford, Andrew, Nadeau, Emily A. W., Greenblatt, Marc S., Macrae, Finlay, and Aziz, Aziz ur Rehman
- Abstract
MUTYH‐associated polyposis (MAP) is an autosomal recessive disorder where the inheritance of constitutional biallelic pathogenic MUTYH variants predisposes a person to the development of adenomas and colorectal cancer (CRC). It is also associated with extracolonic and extraintestinal manifestations that may overlap with the phenotype of familial adenomatous polyposis (FAP). Currently, there are discrepancies in the literature regarding whether certain phenotypes are truly associated with MAP. This narrative review is aimed at exploring the phenotypic spectrum of MAP to better characterize the MAP phenotype. Literature search was conducted to identify articles reporting on MAP‐specific phenotypes. Clinical data from 2109 MAP patients identified from the literature showed that 1123 patients (53.2%) had CRC. Some patients with CRC had no associated adenomas, suggesting that adenomas are not an obligatory component of MAP. Carriers of the two missense founder variants, and possibly truncating variants, had an increased cancer risk when compared to those who carry other pathogenic variants. It has been suggested that somatic G:C > T:A transversions are a mutational signature of MAP and could be used as a biomarker in screening and identifying patients with atypical MAP, or in associating certain phenotypes with MAP. The extracolonic and extraintestinal manifestations that have been associated with MAP include duodenal adenomas, duodenal cancer, fundic gland polyps, gastric cancer, ovarian cancer, bladder cancer, and skin cancer. The association of breast cancer and endometrial cancer with MAP remains disputed. Desmoid tumors and congenital hypertrophy of the retinal pigment epithelium (CHRPEs) are rarely reported in MAP but have long been seen in FAP patients and thus could act as a distinguishing feature between the two. This collection of MAP phenotypes will assist in the assessment of pathogenic MUTYH variants using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) Variant Interpretation Guidelines and ultimately improve patient care. [ABSTRACT FROM AUTHOR]
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- 2024
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27. Long-Term Follow Up of Patients Treated for Inflammatory Bowel Disease and Cytomegalovirus Colitis.
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Singh, Gurtej, Rentsch, Clarissa, Beattie, William, Christensen, Britt, Macrae, Finlay, and Segal, Jonathan P.
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CROHN'S disease ,INFLAMMATORY bowel diseases ,ULCERATIVE colitis ,CYTOMEGALOVIRUS diseases ,DISEASE remission - Abstract
Background: Pathological reactivation of latent Cytomegalovirus (CMV) is triggered by inflammation and immunosuppression; both present in the pathogenesis and treatment of Inflammatory Bowel Disease (IBD). Whether CMV reactivation is associated with escalating medical therapy, further hospital admissions, or worse clinical outcomes remains controversial. This study aimed to follow up IBD patients with an index episode of CMV colitis and analyse the clinical outcomes. Methods: A retrospective study of patients with IBD treated for CMV colitis was completed. The outcome results were collected at 6-month and 12-month time points after the first episode of CMV colitis. A total of 13 patients with Ulcerative Colitis and 1 with Crohn's Disease were included. Results: CMV colitis recurrence occurred in 29% of patients at 12 months. A total of 43% of patients had changed their biologic dose at 6 months and 29% had escalated their biologic dose at 12 months. At 12 months, 36% of patients had been re-hospitalised, including three colectomies. Disease remission was only achieved by 29% of patients at 12 months. Conclusions: IBD patients with CMV colitis have substantial rates of re-hospitalisation, failed medical therapy, and colectomy. These risks may be greater at <6 months from an index episode of CMV colitis. [ABSTRACT FROM AUTHOR]
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- 2024
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28. Etrolizumab as induction and maintenance therapy for ulcerative colitis in patients previously treated with tumour necrosis factor inhibitors (HICKORY): a phase 3, randomised, controlled trial
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Aguilar, Humberto, Ahmad, Tariq, Akriviadis, Evangelos, Aldeguer Mante, Xavier, Allez, Matthieu, Altorjay, Istvan, Ananthakrishnan, Ashwin, Andersen, Vibeke, Andreu Garcia, Montserrat, Armuzzi, Alessandro, Aumais, Guy, Avni-Biron, Irit, Axler, Jeffrey, Ayub, Kamran, Jr., Baert, Filip, Bafutto, Mauro, Bamias, George, Bassan, Isaac, Baum, Curtis, Beaugerie, Laurent, Behm, Brian, Bekal, Pradeep, Bennett, Michael, Bermejo San Jose, Fernando, Bernstein, Charles, Bettenworth, Dominik, Bhaskar, Sudhir, Biancone, Livia, Bilir, Bahri, Blaeker, Michael, Bloom, Stuart, Bohman, Verle, Jr., Bosques Padilla, Francisco Javier, Bossuyt, Peter, Bouhnik, Yoram, Bouma, Gerd, Bourdages, Raymond, Brand, Stephan, Bressler, Brian, Brückner, Markus, Buening, Carsten, Carbonnel, Franck, Caves, Thomas, Chapman, Jonathon, Cheon, Jae Hee, Chiba, Naoki, Chioncel, Camelia, Christodoulou, Dimitrios, Clodi, Martin, Cohen, Albert, Corazza, Gino Roberto, Corlin, Richard, Cosintino, Rocco, Cummings, Fraser, Dalal, Robin, Danese, Silvio, De Maeyer, Marc, De Magalhães Francesconi, Carlos Fernando, De Silva, Aminda, Debinski, Henry, Desreumaux, Pierre, Dewit, Olivier, D'Haens, Geert, Di Felice Boratto, Sandra, Ding, John Nik, Dixon, Tyler, Dryden, Gerald, Jr., Du Vall, George Aaron, Ebert, Matthias, Echarri Piudo, Ana, Ehehalt, Robert, Elkhashab, Magdy, Ennis, Craig, Etzel, Jason, Fallingborg, Jan, Feagan, Brian, Fejes, Roland, Ferraz de Campos Mazo, Daniel, Ferreira de Almeida Borges, Valéria, Fischer, Andreas, Fixelle, Alan, Fleisher, Mark, Fowler, Sharyle, Freilich, Bradley, Friedenberg, Keith, Fries, Walter, Fulop, Csaba, Fumery, Mathurin, Fuster, Sergio, G Kiss, Gyula, Garcia Lopez, Santiago, Gassner, Sonja, Gill, Kanwar, Gilletta de Saint Joseph, Cyrielle, Ginsburg, Philip, Gionchetti, Paolo, Goldin, Eran, Goldis, Adrian-Eugen, Gomez Jaramillo, Hector Alejandro, Gonciarz, Maciej, Gordon, Glenn, Green, Daniel, Grimaud, Jean-Charles, Guajardo Rodriguez, Rogelio, Gurzo, Zoltan, Gutierrez, Alexandra, Gyökeres, Tibor, Hahm, Ki Baik, Hanauer, Stephen, Hanson, John, Harlan III, William, Hasselblatt, Peter, Hayee, Buhussain, Hebuterne, Xavier, Hendy, Peter, Heyman, Melvin, Higgins, Peter, Hilal, Raouf, Hindryckx, Pieter, Hoentjen, Frank, Hoffmann, Peter, Holtkamp-Endemann, Frank, Holtmann, Gerald, Horvat, Gyula, Howaldt, Stefanie, Huber, Samuel, Ibegbu, Ikechukwu, Iborra Colomino, Maria Isabel, Irving, Peter, Isaacs, Kim, Jagarlamudi, Kiran, Jain, Rajesh, Jankiel Miszputen, Sender, Jansen, Jeroen, Jones, Jennifer, Juillerat, Pascal, Karagiannis, John, Karyotakis, Nicholas, Kaser, Arthur, Katz, Lior, Katz, Seymour, Katz, Leo, Kaur, Nirmal, Kazenaite, Edita, Khanna, Reena, Khurana, Sunil, Kim, Joo Sung, Kim, Young-Ho, Kim, Sung Kook, Kim, Dongwoo, Klaus, Jochen, Kleczkowski, Dariusz, Kohout, Pavel, Korczowski, Bartosz, Kouklakis, Georgios, Koutroubakis, Ioannis, Krause, Richard, Kristof, Tunde, Kronborg, Ian, Krummenerl, Annette, Kupcinskas, Limas, Laborda Molteni, Jorge, Laharie, David, Lahat-zok, Adi, Lee, Jonghun, Lee, Kang-Moon, Leong, Rupert, Levine, Henry, Limdi, Jimmy, Lindsay, James, Lodhia, Nilesh, Loftus, Edward, Longman, Randy, Lopez Serrano, Pilar, Louis, Edouard, Louzada Pereira, Maria Helena, Lowe, John, Lueth, Stefan, Lukas, Milan, Maconi, Giovanni, Macrae, Finlay, Madi-Szabo, Laszlo, Mahadevan-Velayos, Uma, Malluta, Everson Fernando, Mana, Fazia, Mannon, Peter, Mantzaris, Gerasimos, Marin Jimenez, Ignacio, Martin Arranz, Maria Dolores, Mateescu, Radu-Bogdan, Mazzoleni, Felipe, Meder, Agnieszka, Melzer, Ehud, Mertens, Jessica, Mimidis, Konstantinos, Mitchell, Brent, Molnar, Tamas, Moore, Gregory, Morales Garza, Luis Alonso, Mountifield, Reme, Muls, Vinciane, Murray, Charles, Nagy, Bela, Neurath, Markus, Nguyen, Augustin, Panaccione, Remo, Pandak, William, Panes Diaz, Julian, Park, Jihye, Pastorelli, Luca, Patel, Bhaktasharan, Peck-Radosavljevic, Markus, Pecsi, Gyula, Peerani, Farhad, Perez Gisbert, Javier, Pesta, Martin, Petryka, Robert, Peyrin-Biroulet, Laurent, Phillips, Raymond, Pierik, Marieke, Pratha, Vijayalakshmi, Prochazka, Vlastimil, Racz, Istvan, Radford-Smith, Graham, Ramos Castañeda, Daniel, Ramos Júnior, Odery, Regula, Jaroslaw, Reimund, Jean-Marie, Robbins, Bryan, Roblin, Xavier, Rogai, Francesca, Rogler, Gerhard, Rozciecha, Jerzy, Rubin, David, Ruiz Flores, Azalia Yuriria, Rupinski, Maciej, Rydzewska, Grazyna, Saha, Sumona, Saibeni, Simone, Salamon, Agnes, Sallo, Zoltan, Salzberg, Bruce, Samuel, Douglas, Samuel, Sunil, Sandborn, William, Savarino, Edoardo Vincenzo, Schirbel, Anja, Schnabel, Robert, Schreiber, Stefan, Scott, John, Sedghi, Shahriar, Seibold, Frank, Seidelin, Jakob, Seidler, Ursula, Shaban, Ahmad, Shafran, Ira, Sheikh, Aasim, Sherman, Alex, Shirin, Haim, Smolinski, Patryk, Song, Geun Am, Soufleris, Konstantinos, Speight, Alexander, Staessen, Dirk, Stallmach, Andreas, Staun, Michael, Stein, Daniel, Steinhart, Hillary, Stifft, Jonathas, Stokesberry, David, Sturm, Andreas, Sultan, Keith, Szekely, Gyorgy, Tagore, Kuldeep, Tanno, Hugo, Thin, Lena, Thiwan, Syed, Thomas, Carlton, Tichy, Michal, Toth, Gabor Tamas, Tulassay, Zsolt, Ulbrych, Jan, Valentine, John, Varga, Marta, Vasconcellos, Eduardo, Vaughn, Byron, Velasco, Brenda, Velazquez, Francisco, Vermeire, Severine, Villa, Erica, Vincze, Aron, Vogelsang, Harald, Volfova, Miroslava, Vuitton, Lucine, Vyhnalek, Petr, Wahab, Peter, Walldorf, Jens, Waterman, Mattitiahu, Weber, John, Weiss, L. Michael, Wiechowska-Kozlowska, Anna, Wiesner, Elise, Witthoeft, Thomas, Wohlman, Robert, Wozniak-Stolarska, Barbara, Yacyshyn, Bruce, Ye, Byong-Duk, Younes, Ziad, Yukie Sassaki, Lígia, Zaltman, Cyrla, Zeuzem, Stefan, Hart, Ailsa, Long, Millie, Loftus, Edward V, Jr, Ostad-Saffari, Elham, Scalori, Astrid, Oh, Young S, Tole, Swati, Chai, Akiko, Pulley, Jennifer, Lacey, Stuart, and Sandborn, William J
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- 2022
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29. Evaluating Multiple Next-Generation Sequencing–Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status
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Walker, Romy, Georgeson, Peter, Mahmood, Khalid, Joo, Jihoon E., Makalic, Enes, Clendenning, Mark, Como, Julia, Preston, Susan, Joseland, Sharelle, Pope, Bernard J., Hutchinson, Ryan A., Kasem, Kais, Walsh, Michael D., Macrae, Finlay A., Win, Aung K., Hopper, John L., Mouradov, Dmitri, Gibbs, Peter, Sieber, Oliver M., O'Sullivan, Dylan E., Brenner, Darren R., Gallinger, Steven, Jenkins, Mark A., Rosty, Christophe, Winship, Ingrid M., and Buchanan, Daniel D.
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- 2022
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30. Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative study
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Meiser, Bettina, Monnik, Melissa, Austin, Rachel, Nichols, Cassandra, Cops, Elisa, Salmon, Lucinda, Spurdle, Amanda B., Macrae, Finlay, Taylor, Natalie, Pachter, Nicholas, James, Paul, and Kaur, Rajneesh
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- 2022
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31. Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel
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Plazzer, John Paul, primary, Macrae, Finlay, additional, Yin, Xiaoyu, additional, Thompson, Bryony A, additional, Farrington, Susan M, additional, Currie, Lauren, additional, Lagerstedt-Robinson, Kristina, additional, Frederiksen, Jane Hubertz, additional, van Overeem Hansen, Thomas, additional, Graversen, Lise, additional, Frayling, Ian M, additional, Akagi, Kiwamu, additional, Yamamoto, Gou, additional, Al-Mulla, Fahd, additional, Ferber, Matthew J, additional, Martins, Alexandra, additional, Genuardi, Maurizio, additional, Kohonen-Corish, Maija, additional, Baert-Desurmont, Stephanie, additional, Spurdle, Amanda B, additional, Capella, Gabriel, additional, Pineda, Marta, additional, Woods, Michael O, additional, Rasmussen, Lene Juel, additional, Heinen, Christopher D, additional, Scott, Rodney J, additional, Tops, Carli M, additional, Greenblatt, Marc S, additional, Dominguez-Valentin, Mev, additional, Ognedal, Elisabet, additional, Borras, Ester, additional, Leung, Suet Y, additional, Mahmood, Khalid, additional, Holinski-Feder, Elke, additional, and Laner, Andreas, additional
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- 2024
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32. Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes
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Møller, Pål, primary, Haupt, Saski, additional, Ahadova, Aysel, additional, Kloor, Matthias, additional, Sampson, Julian, additional, Sunde, Lone, additional, Seppälä, Toni Toni, additional, Burn, John, additional, Bernstein, Inge, additional, Capella, Gabriel, additional, Evans, D Gareth, additional, Lindblom, Annika, additional, Winship, Ingrid, additional, Macrae, Finlay, additional, Katz, Lior, additional, Laish, Ido, additional, Vainer, Elez, additional, Monahan, Kevin, additional, Half, Elizabeth, additional, Horisberger, Karoline, additional, Silva, Leandro Apolinário da, additional, Heuveline, Vincent, additional, Therkildsen, Christina, additional, Lautrup, Charlotte, additional, Klarskov, Louvise L, additional, Cavestro, Giulia Martina, additional, Möslein, Gabriela, additional, Hovig, Eivind, additional, and Dominguez-Valentin, Mev, additional
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- 2024
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33. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study
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Adams, Lisa, Adlard, Julian, Alfonso, Rosa, Ali, Saira, Andrew, Angela, Araújo, Luís, Azam, Nazya, Ball, Darran, Barker, Queenstone, Basevitch, Alon, Benton, Barbara, Berlin, Cheryl, Bermingham, Nicola, Biller, Leah, Bloss, Angela, Bradford, Matilda, Bradshaw, Nicola, Branson, Amy, Brendler, Charles, Brennan, Maria, Bulman, Barbara, Burgess, Lucy, Cahill, Declan, Callard, Alice, Calvo Verges, Nuria, Cardoso, Marta, Carter, Vanda, Catanzaro, Mario, Chamberlain, Anthony, Chapman, Cyril, Chong, Michael, Clark, Caroline, Clowes, Virginia, Cogley, Lyn, Cole, Trevor, Compton, Cecilia, Conner, Tom, Cookson, Sandra, Cornford, Philip, Costello, Philandra, Coulier, Laura, Davies, Michaela, Dechet, Christopher, DeSouza, Bianca, Devlin, Gemma, Douglas, Fiona, Douglas, Emma, Dudakia, Darshna, Duncan, Alexis, Ellery, Natalie, Everest, Sarah, Freemantle, Sue, Frydenberg, Mark, Fuller, Debbie, Gabriel, Camila, Gale, Madeline, Garcia, Lynda, Gay, Simona, Genova, Elena, George, Angela, Georgiou, Demetra, Gisbert, Alexandra, Gleeson, Margaret, Glover, Wayne, Gnanapragasam, Vincent, Goff, Sally, Goldgar, David, Gonçalves, Nuno, Goodman, Selina, Gorrie, Jennifer, Gott, Hannah, Grant, Anna, Gray, Catherine, Griffiths, Julie, Gupwell, Karin, Gurasashvili, Jana, Hanslien, Eldbjørg, Haraldsdottir, Sigurdis, Hart, Rachel, Hartigan, Catherine, Hawkes, Lara, Heaton, Tricia, Henderson, Alex, Henrique, Rui, Hilario, Kathrine, Hill, Kathryn, Hulick, Peter, Hunt, Clare, Hutchings, Melanie, Ibitoye, Rita, Inglehearn, Thomas, Ireland, Joanna, Islam, Farah, Ismail, Siti, Jacobs, Chris, James, Denzil, Jenkins, Sharon, Jobson, Irene, Johnstone, Anne, Jones, Oliver, Josefsberg Ben-Yehoshua, Sagi, Kaemba, Beckie, Kaul, Karen, Kemp, Zoe, Kinsella, Netty, Klehm, Margaret, Kockelbergh, Roger, Kohut, Kelly, Kosicka-Slawinska, Monika, Kulkarni, Anjana, Kumar, Pardeep, Lam, Jimmy, LeButt, Mandy, Leibovici, Dan, Lim, Ramona, Limb, Lauren, Lomas, Claire, Longmuir, Mark, López, Consol, Magnani, Tiziana, Maia, Sofia, Maiden, Jessica, Male, Alison, Manalo, Merrie, Martin, Phoebe, McBride, Donna, McGuire, Michael, McMahon, Romayne, McNally, Claire, McVeigh, Terri, Melzer, Ehud, Mencias, Mark, Mercer, Catherine, Mitchell, Gillian, Mora, Josefina, Morton, Catherine, Moss, Cathryn, Murphy, Morgan, Murphy, Declan, Mzazi, Shumi, Nadolski, Maria, Newlin, Anna, Nogueira, Pedro, O'Keefe, Rachael, O'Toole, Karen, O'Connell, Shona, Ogden, Chris, Okoth, Linda, Oliveira, Jorge, Paez, Edgar, Palou, Joan, Park, Linda, Patel, Nafisa, Paulo Souto, João, Pearce, Allison, Peixoto, Ana, Perez, Kimberley, Petelin, Lara, Pichert, Gabriella, Poile, Charlotte, Potter, Alison, Preitner, Nadia, Purnell, Helen, Quinn, Ellen, Radice, Paolo, Rankin, Brigette, Rees, Katie, Renton, Caroline, Richardson, Kate, Risby, Peter, Rogers, Jason, Ruderman, Maggie, Ruiz, April, Sajoo, Anaar, Salvatore, Natale, Sands, Victoria, Sanguedolce, Francesco, Sattar, Ayisha, Saunders, Kathryn, Schofield, Lyn, Scott, Rodney, Searle, Anne, Sehra, Ravinder, Selkirk, Christina, Shackleton, Kylie, Shanley, Sue, Shaw, Adam, Shevrin, Daniel, Shipman, Hannah, Sidat, Zahirah, Siguake, Kas, Simon, Kate, Smyth, Courtney, Snadden, Lesley, Solanky, Nita, Solomons, Joyce, Sorrentino, Margherita, Stayner, Barbara, Stephenson, Robert, Stoffel, Elena, Thomas, Maggie, Thompson, Alan, Tidey, Lizzie, Tischkowitz, Marc, Torokwa, Audrey, Townshend, Sharron, Treherne, Katy, Tricker, Karen, Trinh, Quoc-Dien, Tripathi, Vishakha, Turnbull, Clare, Valdagni, Riccardo, Van As, Nicholas, Venne, Vickie, Verdon, Lizzie, Vitellaro, Marco, Vogel, Kristen, Walker, Lisa, Watford, Amy, Watt, Cathy, Weintroub, Ilana, Weiss, Shelly, Weissman, Scott, Weston, Michelle, Wiggins, Jennifer, Wise, Gillian, Woodhouse, Christopher, Yesildag, Pembe, Youngs, Alice, Yurgelun, Matthew, Zollo, Fabiana, Bancroft, Elizabeth K, Page, Elizabeth C, Brook, Mark N, Thomas, Sarah, Taylor, Natalie, Pope, Jennifer, McHugh, Jana, Jones, Ann-Britt, Karlsson, Questa, Merson, Susan, Ong, Kai Ren, Hoffman, Jonathan, Huber, Camilla, Maehle, Lovise, Grindedal, Eli Marie, Stormorken, Astrid, Evans, D Gareth, Rothwell, Jeanette, Lalloo, Fiona, Brady, Angela F, Bartlett, Marion, Snape, Katie, Hanson, Helen, James, Paul, McKinley, Joanne, Mascarenhas, Lyon, Syngal, Sapna, Ukaegbu, Chinedu, Side, Lucy, Thomas, Tessy, Barwell, Julian, Teixeira, Manuel R, Izatt, Louise, Suri, Mohnish, Macrae, Finlay A, Poplawski, Nicola, Chen-Shtoyerman, Rakefet, Ahmed, Munaza, Musgrave, Hannah, Nicolai, Nicola, Greenhalgh, Lynn, Brewer, Carole, Pachter, Nicholas, Spigelman, Allan D, Azzabi, Ashraf, Helfand, Brian T, Halliday, Dorothy, Buys, Saundra, Ramon y Cajal, Teresa, Donaldson, Alan, Cooney, Kathleen A, Harris, Marion, McGrath, John, Davidson, Rosemarie, Taylor, Amy, Cooke, Peter, Myhill, Kathryn, Hogben, Matthew, Aaronson, Neil K, Ardern-Jones, Audrey, Bangma, Chris H, Castro, Elena, Dearnaley, David, Dias, Alexander, Dudderidge, Tim, Eccles, Diana M, Green, Kate, Eyfjord, Jorunn, Falconer, Alison, Foster, Christopher S, Gronberg, Henrik, Hamdy, Freddie C, Johannsson, Oskar, Khoo, Vincent, Lilja, Hans, Lindeman, Geoffrey J, Lubinski, Jan, Axcrona, Karol, Mikropoulos, Christos, Mitra, Anita V, Moynihan, Clare, Ni Raghallaigh, Holly, Rennert, Gad, Collier, Rebecca, Offman, Judith, Kote-Jarai, Zsofia, and Eeles, Rosalind A
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- 2021
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34. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
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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.
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- 2021
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35. Cardiovascular disease and stroke following cancer and cancer treatment in older adults.
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Muhandiramge, Jaidyn, Zalcberg, John R., Warner, Erica T., Polekhina, Galina, Gibbs, Peter, van Londen, G. J., Bernstein, Wendy B., Macrae, Finlay, Haydon, Andrew, Tie, Jeanne, Millar, Jeremy L., Mar, Victoria J., Gately, Lucy, Tonkin, Andrew, Ford, Leslie, Umar, Asad, Chan, Andrew T., Woods, Robyn L., and Orchard, Suzanne G.
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ISCHEMIC stroke ,STROKE ,OLDER people ,CARDIOVASCULAR diseases ,CANCER patients ,HEART failure ,MYOCARDIAL infarction - Abstract
Background: Cancer survivors can be at risk of cardiovascular disease (CVD) because of either their malignancy or its treatment. Although studies linking cancer and CVD exist, few examine risk in older adults, the impact of cancer treatment, or the effect of aspirin on reducing risk in this cohort. Methods: The authors conducted a secondary analysis of the Aspirin in Reducing Events in the Elderly (ASPREE) trial to investigate the impact of cancer and cancer treatment on a composite CVD end point comprising hospitalization for heart failure (HHF), myocardial infarction (MI), and stroke. Results: Of 15,454 Australian and US ASPREE participants, 1392 had an incident cancer diagnosis. Rates of CVD were greater in the cancer risk‐set compared to the cancer‐free risk‐set (20.8 vs. 10.3 events per 1000 person‐years; incidence rate ratio, 2.03; 95% confidence interval, 1.51–2.66), with increased incidence seen across MI, HHF, overall stroke, and ischemic stroke. Increased incidence remained after adjustment for clinically significant risk factors for CVD. Incidence was greatest in metastatic, hematological, and lung cancer. Chemotherapy was associated with increased risk of CVD. Similar rates of CVD were seen across aspirin and placebo groups. Conclusions: Incidence of CVD, including MI, HHF, and ischemic stroke, was increased in older adults with cancer. Aspirin did not impact CVD incidence. Risk may be higher in those with metastatic, hematological, and lung cancer, and following chemotherapy. Cancer and its treatment may predispose patients to cardiovascular disease. In the study, the authors demonstrated increased risk of cardiovascular disease in older adults with cancer, particularly following chemotherapy. [ABSTRACT FROM AUTHOR]
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- 2024
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36. Costs and Cost-Effectiveness of Targeted, Personalized Risk Information to Increase Appropriate Screening by First-Degree Relatives of People with Colorectal Cancer
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Reeves, Penny, Doran, Christopher, Carey, Mariko, Cameron, Emilie, Sanson-Fisher, Robert, Macrae, Finlay, and Hill, David
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Background: Economic evaluations are less commonly applied to implementation interventions compared to clinical interventions. The efficacy of an implementation strategy to improve adherence to screening guidelines among first-degree relatives of people with colorectal cancer was recently evaluated in a randomized-controlled trial. Using these trial data, we examined the costs and cost-effectiveness of the intervention from societal and health care funder perspectives. Method: In this prospective, trial-based evaluation, mean costs, and outcomes were calculated. The primary outcome of the trial was the proportion of participants who had screening tests in the year following the intervention commensurate with their risk category. Quality-adjusted life years were included as secondary outcomes. Intervention costs were determined from trial records. Standard Australian unit costs for 2016/2017 were applied. Cost-effectiveness was assessed using the net benefit framework. Nonparametric bootstrapping was used to calculate uncertainty intervals (UIs) around the costs and the incremental net monetary benefit statistic. Results: Compared with usual care, mean health sector costs were $17 (95% UI [$14, $24]) higher for those receiving the intervention. The incremental cost-effectiveness ratio for the primary trial outcome was calculated to be $258 (95% UI [$184, $441]) per additional person appropriately screened. The significant difference in adherence to screening guidelines between the usual care and intervention groups did not translate into a mean quality-adjusted life year difference. Discussion: Providing information on both the costs and outcomes of implementation interventions is important to inform public health care investment decisions. Challenges in the application of cost-utility analysis hampered the interpretation of results and potentially underestimated the value of the intervention. Further research in the form of a modeled extrapolation of the intermediate increased adherence effect and distributional cost-effectiveness to include equity requirements is warranted.
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- 2019
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37. Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
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Dominguez-Valentin, Mev, Crosbie, Emma J., Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Thomas, Huw, Nakken, Sigve, Hovig, Eivind, Nielsen, Maartje, Sijmons, Rolf H., Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Mints, Miriam, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Green, Kate, Lalloo, Fiona, Hill, James, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Strauß, Hans-Georg, Tecklenburg, Johanna, Holinski-Feder, Elke, Steinke-Lange, Verena, Mecklin, Jukka-Pekka, Plazzer, John-Paul, Pineda, Marta, Navarro, Matilde, Vidal, Joan Brunet, Kariv, Revital, Rosner, Guy, Piñero, Tamara Alejandra, Gonzalez, María Laura, Kalfayan, Pablo, Ryan, Neil, ten Broeke, Sanne W., Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Burn, John, Greenblatt, Marc, de Vos tot Nederveen Cappel, Wouter H., Della Valle, Adriana, Lopez-Koestner, Francisco, Alvarez, Karin, Büttner, Reinhard, Görgens, Heike, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Weitz, Jürgen, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Auranen, Annika, 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., Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Denton, Oliver G., Rødland, Einar Andreas, Vasen, Hans, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Sampson, Julian R., Evans, D. Gareth, Seppälä, Toni T., and Møller, Pål
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- 2021
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38. Should I Take Aspirin? (SITA): randomised controlled trial of a decision aid for cancer chemoprevention.
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Onwuka, Shakira R, McIntosh, Jennifer, Macrae, Finlay, Chondros, Patty, Boyd, Lucy, Wijesuriya, Rushani, Saya, Sibel, Karnchanachari, Napin, Novy, Kitty, Jenkins, Mark A, Walter, Fiona M, Trevena, Lyndal, Gutierrez, Javiera Martinez, Broun, Kate, Fishman, George, Marker, Julie, and Emery, Jon
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CANCER chemoprevention ,RANDOMIZED controlled trials ,ASPIRIN ,COLORECTAL cancer ,ODDS ratio - Abstract
Background: Australian guidelines recommend that people aged 50–70 years consider taking low-dose aspirin to reduce their risk of colorectal cancer (CRC). Aim: To determine the effect of a consultation with a researcher before an appointment in general practice using a decision aid presenting the benefits and harms of taking low-dose aspirin compared with a general CRC prevention brochure on patients' informed decision making and low-dose aspirin use. Design and setting: Individually randomised controlled trial in six general practices in Victoria, Australia, from October 2020 to March 2021. Method: Participants were recruited from a consecutive sample of patients aged 50–70 years attending a GP. The intervention was a consultation using a decision aid to discuss taking aspirin to reduce CRC risk while control consultations discussed reducing CRC risk generally. Self-reported co-primary outcomes were the proportion of individuals making informed choices about taking aspirin at 1 month and on low-dose aspirin uptake at 6 months, respectively. The intervention effect was estimated using a generalised linear model and reported with Bonferroni-adjusted 95% confidence intervals (CIs) and P-values. Results: A total of 261 participants (86% of eligible patients) were randomised into trial arms (n = 129 intervention; n = 132 control). Of these participants, 17.7% (n = 20/113) in the intervention group and 7.6% (n = 9/118) in the control group reported making an informed choice about taking aspirin at 1 month, an estimated 9.1% (95% CI = 0.29 to 18.5) between-arm difference in proportions (odds ratio [OR] 2.47, 97.5% CI = 0.94 to 6.52, P = 0.074). The proportions of individuals who reported taking aspirin at 6 months were 10.2% (n = 12/118) of the intervention group versus 13.8% (n = 16/116) of the control group, an estimated between-arm difference of −4.0% (95% CI = −13.5 to 5.5; OR 0.68 [97.5% CI = 0.27 to 1.70, P = 0.692]). Conclusion: The decision aid improved informed decision making but this did not translate into long-term regular use of aspirin to reduce CRC risk. In future research, decision aids should be delivered alongside various implementation strategies. [ABSTRACT FROM AUTHOR]
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- 2024
39. Designing a decision aid for cancer prevention: a qualitative study.
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Milton, Shakira, Macrae, Finlay, McIntosh, Jennifer G, Saya, Sibel, Alphonse, Pavithran, Yogaparan, Thivagar, Karnchanachari, Napin, Novy, Kitty, Nguyen, Peter, Lau, Phyllis, and Emery, Jon
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CANCER prevention , *QUALITATIVE research , *COLORECTAL cancer , *CONSUMERS , *ASPIRIN - Abstract
Objectives Australian guidelines recommend people aged 50–70 years old consider taking low-dose aspirin to reduce their risk of colorectal cancer. The aim was to design sex-specific decision aids (DAs) with clinician and consumer input, including expected frequency trees (EFTs) to communicate the risks and benefits of taking aspirin. Methods Semi-structured interviews were conducted with clinicians. Focus groups were conducted with consumers. The interview schedules covered ease of comprehension, design, potential effects on decision-making, and approaches to implementation of the DAs. Thematic analysis was employed; independent coding by 2 researchers was inductive. Themes were developed through consensus between authors. Results Sixty-four clinicians were interviewed over 6 months in 2019. Twelve consumers aged 50–70 years participated in two focus groups in February and March 2020. The clinicians agreed that the EFTs would be helpful to facilitate a discussion with patients but suggested including an additional estimate of the effects of aspirin on all-cause mortality. The consumers felt favourable about the DAs and suggested changes to the design and wording to ease comprehension. Conclusion DAs were designed to communicate the risks and benefits of low-dose aspirin for disease prevention. The DAs are currently being trialled in general practice to determine their impact on informed decision-making and aspirin uptake. [ABSTRACT FROM AUTHOR]
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- 2024
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40. Intratumoral presence of the genotoxic gut bacteria pks+ E. coli, Enterotoxigenic Bacteroides fragilis, and Fusobacterium nucleatum and their association with clinicopathological and molecular features of colorectal cancer
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Joo, Jihoon E., primary, Chu, Yen Lin, additional, Georgeson, Peter, additional, Walker, Romy, additional, Mahmood, Khalid, additional, Clendenning, Mark, additional, Meyers, Aaron L., additional, Como, Julia, additional, Joseland, Sharelle, additional, Preston, Susan G., additional, Diepenhorst, Natalie, additional, Toner, Julie, additional, Ingle, Danielle J., additional, Sherry, Norelle L., additional, Metz, Andrew, additional, Lynch, Brigid M., additional, Milne, Roger L., additional, Southey, Melissa C., additional, Hopper, John L., additional, Win, Aung Ko, additional, Macrae, Finlay A., additional, Winship, Ingrid M., additional, Rosty, Christophe, additional, Jenkins, Mark A., additional, and Buchanan, Daniel D., additional
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- 2024
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41. Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family
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Chan, James M., primary, Clendenning, Mark, additional, Joseland, Sharelle, additional, Georgeson, Peter, additional, Mahmood, Khalid, additional, Joo, Jihoon E., additional, Walker, Romy, additional, Como, Julia, additional, Preston, Susan, additional, Chai, Shuyi Marci, additional, Chu, Yen Lin, additional, Meyers, Aaron L., additional, Pope, Bernard J., additional, Duggan, David, additional, Fink, J. Lynn, additional, Macrae, Finlay A., additional, Rosty, Christophe, additional, Winship, Ingrid M., additional, Jenkins, Mark A., additional, and Buchanan, Daniel D., additional
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- 2023
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42. Commentary: Pivoting during a pandemic: developing a new recruitment model for a randomised controlled trial in response to COVID-19
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Milton, Shakira, McIntosh, Jennifer, Boyd, Lucy, Karnchanachari, Napin, Macrae, Finlay, and Emery, Jon David
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- 2021
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43. An RCT of a decision aid to support informed choices about taking aspirin to prevent colorectal cancer and other chronic diseases: a study protocol for the SITA (Should I Take Aspirin?) trial
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Milton, Shakira, McIntosh, Jennifer, Macrae, Finlay, Chondros, Patty, Trevena, Lyndal, Jenkins, Mark, Walter, Fiona M., Taylor, Natalie, Boyd, Lucy, Saya, Sibel, Karnchanachari, Napin, Novy, Kitty, Forbes, Carmody, Gutierrez, Javiera Martinez, Broun, Kate, Whitburn, Sara, McGill, Sarah, Fishman, George, Marker, Julie, Shub, Max, and Emery, Jon
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- 2021
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44. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
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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.
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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 [...]
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- 2022
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45. Screening and risk reducing surgery for endometrial or ovarian cancers in Lynch syndrome: a systematic review
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Lim, Natalie, Hickey, Martha, Young, Graeme P, Macrae, Finlay A, and Kelly, Christabel
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- 2022
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46. Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals
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Lacaze, Paul, Sebra, Robert, Riaz, Moeen, Tiller, Jane, Revote, Jerico, Phung, James, Parker, Emily J., Orchard, Suzanne G., Lockery, Jessica E., Wolfe, Rory, Strahl, Maya, Wang, Ying C., Chen, Rong, Sisco, Daniel, Arnold, Todd, Thompson, Bryony A., Buchanan, Daniel D., Macrae, Finlay A., James, Paul A., Abhayaratna, Walter P., Lockett, Trevor J., Gibbs, Peter, Tonkin, Andrew M., Nelson, Mark R., Reid, Christopher M., Woods, Robyn L., Murray, Anne M., Winship, Ingrid, McNeil, John J., and Schadt, Eric
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- 2020
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47. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
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Dominguez-Valentin, Mev, Sampson, Julian R., Seppälä, Toni T., ten Broeke, Sanne W., Plazzer, John-Paul, Nakken, Sigve, Engel, Christoph, Aretz, Stefan, Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Capella, Gabriel, Balaguer, Francesc, Thomas, Huw, Evans, D. Gareth, Burn, John, Greenblatt, Marc, Hovig, Eivind, de Vos tot Nederveen Cappel, Wouter H., Sijmons, Rolf H., Bertario, Lucio, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Della Valle, Adriana, Lopez-Köstner, Francisco, Gluck, Nathan, Katz, Lior H., Heinimann, Karl, Vaccaro, Carlos A., Büttner, Reinhard, Görgens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, Knebel Doeberitz, Magnus von, Loeffler, Markus, Rahner, Nils, Schackert, Hans K., Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Wadt, Karin, Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Moreira, Leticia, Sánchez, Ariadna, Serra-Burriel, Miquel, Pineda, Marta, Navarro, Matilde, Blanco, Ignacio, Green, Kate, Lalloo, Fiona, Crosbie, Emma J., Hill, James, Denton, Oliver G., Frayling, Ian M., Rødland, Einar Andreas, Vasen, Hans, Mints, Miriam, Neffa, Florencia, Esperon, Patricia, Alvarez, Karin, Kariv, Revital, Rosner, Guy, Pinero, Tamara Alejandra, Gonzalez, María Laura, Kalfayan, Pablo, Tjandra, Douglas, Winship, Ingrid M., Macrae, Finlay, Möslein, Gabriela, Mecklin, Jukka-Pekka, Nielsen, Maartje, and Møller, Pål
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- 2020
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48. The InSiGHT Database: An Example LOVD System
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Plazzer, John Paul, den Dunnen, Johan, Macrae, Finlay, Valle, Laura, editor, Gruber, Stephen B., editor, and Capellá, Gabriel, editor
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- 2018
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49. Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers
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Joo, Jihoon E., Mahmood, Khalid, Walker, Romy, Georgeson, Peter, Candiloro, Ida, Clendenning, Mark, Como, Julia, Joseland, Sharelle, Preston, Susan, Graversen, Lise, Wilding, Mathilda, Field, Michael, Lemon, Michelle, Wakeling, Janette, Marfan, Helen, Susman, Rachel, Isbister, Joanne, Edwards, Emma, Bowman, Michelle, Kirk, Judy, Ip, Emilia, McKay, Lynne, Antill, Yoland, Hopper, John L., Boussioutas, Alex, Macrae, Finlay A., Dobrovic, Alexander, Jenkins, Mark A., Rosty, Christophe, Winship, Ingrid M., and Buchanan, Daniel D.
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Genome wide DNA methylation ,MLH1 epimutation ,Lynch syndrome ,MLH1 methylation ,MMR deficiency ,Colorectal cancer - Abstract
Background: MLH1 epimutation is characterised by constitutional monoallelic MLH1 promoter hypermethylation, which can cause colorectal cancer (CRC). Tumour molecular profiles of MLH1 epimutation CRCs were used to classify germline MLH1 promoter variants of uncertain significance and MLH1 methylated early-onset CRCs (EOCRCs). Genome-wide DNA methylation and somatic mutational profiles of tumours from two germline MLH1: c.-11C > T and one MLH1: c.-[28A > G; 7C > T] carriers and three MLH1 methylated EOCRCs (< 45 years) were compared with 38 reference CRCs. Methylation-sensitive droplet digital PCR (ddPCR) was used to detect mosaic MLH1 methylation in blood, normal mucosa and buccal DNA. Results: Genome-wide methylation-based Consensus Clustering identified four clusters where the tumour methylation profiles of germline MLH1: c.-11C > T carriers and MLH1 methylated EOCRCs clustered with the constitutional MLH1 epimutation CRCs but not with the sporadic MLH1 methylated CRCs. Furthermore, monoallelic MLH1 methylation and APC promoter hypermethylation in tumour were observed in both MLH1 epimutation and germline MLH1: c.-11C > T carriers and MLH1 methylated EOCRCs. Mosaic constitutional MLH1 methylation in MLH1: c.-11C > T carriers and 1 of 3 MLH1 methylated EOCRCs was identified by methylation-sensitive ddPCR. Conclusions: Mosaic MLH1 epimutation underlies the CRC aetiology in MLH1: c.-11C > T germline carriers and a subset of MLH1 methylated EOCRCs. Tumour profiling and ultra-sensitive ddPCR methylation testing can be used to identify mosaic MLH1 epimutation carriers.
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- 2023
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50. Worldwide Practice Patterns in Lynch Syndrome Diagnosis and Management, Based on Data From the International Mismatch Repair Consortium
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Pan, Jennifer Y., Haile, Robert W., Templeton, Allyson, Macrae, Finlay, Qin, FeiFei, Sundaram, Vandana, and Ladabaum, Uri
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- 2018
- Full Text
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