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
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, Buchanan, Daniel D
Published in Clinical epigenetics (03.06.2023)
Published in Clinical epigenetics (03.06.2023)
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Journal Article
Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers
Georgeson, Peter, Pope, Bernard J, Rosty, Christophe, Clendenning, Mark, Mahmood, Khalid, Joo, Jihoon E, Walker, Romy, Hutchinson, Ryan A, Preston, Susan, Como, Julia, Joseland, Sharelle, Win, Aung Ko, Macrae, Finlay A, Hopper, John L, Mouradov, Dmitri, Gibbs, Peter, Sieber, Oliver M, O'Sullivan, Dylan E, Brenner, Darren R, Gallinger, Steve, Jenkins, Mark A, Winship, Ingrid M, Buchanan, Daniel D
Published in Gut (01.11.2021)
Published in Gut (01.11.2021)
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Journal Article
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
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., Buchanan, Daniel D.
Published in British journal of cancer (23.03.2024)
Published in British journal of cancer (23.03.2024)
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The impact of cause of mismatch repair deficiency and other molecular markers on clinical outcomes with the use of durvalumab in advanced endometrial cancer in the phase 2 PHAEDRA trial (ANZGOG1601)
Buchanan, Daniel D., Mahmood, Khalid, Georgeson, Peter, Walker, Romy, Robledo, Kristy, Cummins, Michelle M., Spurdle, Amanda B., Smith, Deborah S, Joo, Eric, Clendenning, Mark, Como, Julia, Preston, Susan, Yip, Sonia, Andrews, John, Kok, Peey Sei, Lee, Yeh Chen, Stockler, Martin R., Mileshkin, Linda R., Antill, Yoland Catherine
Published in Journal of clinical oncology (01.06.2023)
Published in Journal of clinical oncology (01.06.2023)
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Journal Article
Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer
Elsayed, Fadwa A., Grolleman, Judith E., Ragunathan, Abiramy, Boot, Arnoud, Stojovska, Marija Staninova, Mahmood, Khalid, Clendenning, Mark, de Miranda, Noel, Dymerska, Dagmara, Egmond, Demi van, Gallinger, Steven, Georgeson, Peter, Hoogerbrugge, Nicoline, Hopper, John L., Jansen, Erik A.M., Jenkins, Mark A., Joo, Jihoon E., Kuiper, Roland P., Ligtenberg, Marjolijn J.L., Lubinski, Jan, Macrae, Finlay A., Morreau, Hans, Newcomb, Polly, Nielsen, Maartje, Palles, Claire, Park, Daniel J., Pope, Bernard J., Rosty, Christophe, Ruiz Ponte, Clara, Schackert, Hans K., Sijmons, Rolf H., Tomlinson, Ian P., Tops, Carli M.J., Vreede, Lilian, Walker, Romy, Win, Aung K., Buchanan, Daniel D., van Wezel, Tom, de Voer, Richarda M.
Published in Gastroenterology (New York, N.Y. 1943) (01.12.2020)
Published in Gastroenterology (New York, N.Y. 1943) (01.12.2020)
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A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report
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., Buchanan, Daniel D.
Published in Familial cancer (01.10.2023)
Published in Familial cancer (01.10.2023)
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Journal Article
Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome
Pope, Bernard J., Clendenning, Mark, Rosty, Christophe, Mahmood, Khalid, Georgeson, Peter, Joo, Jihoon E., Walker, Romy, Hutchinson, Ryan A., Jayasekara, Harindra, Joseland, Sharelle, Como, Julia, Preston, Susan, Spurdle, Amanda B., Macrae, Finlay A., Win, Aung K., Hopper, John L., Jenkins, Mark A., Winship, Ingrid M., Buchanan, Daniel D.
Published in The Journal of molecular diagnostics : JMD (01.03.2021)
Published in The Journal of molecular diagnostics : JMD (01.03.2021)
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Journal Article
Evaluating Multiple Next-Generation Sequencing–Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status
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., Buchanan, Daniel D.
Published in The Journal of molecular diagnostics : JMD (01.02.2023)
Published in The Journal of molecular diagnostics : JMD (01.02.2023)
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Journal Article
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family
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., Buchanan, Daniel D.
Published in Familial cancer (01.03.2024)
Published in Familial cancer (01.03.2024)
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Journal Article
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer
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., Buchanan, Daniel D.
Published in Familial cancer (01.10.2022)
Published in Familial cancer (01.10.2022)
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Journal Article
DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands
Walker, Romy, Mahmood, Khalid, Como, Julia, Clendenning, Mark, Joo, Jihoon E, Georgeson, Peter, Joseland, Sharelle, Preston, Susan G, Pope, Bernard J, Chan, James M, Austin, Rachel, Bojadzieva, Jasmina, Campbell, Ainsley, Edwards, Emma, Gleeson, Margaret, Goodwin, Annabel, Harris, Marion T, Ip, Emilia, Kirk, Judy, Mansour, Julia, Mar Fan, Helen, Nichols, Cassandra, Pachter, Nicholas, Ragunathan, Abiramy, Spigelman, Allan, Susman, Rachel, Christie, Michael, Jenkins, Mark A, Pai, Rish K, Rosty, Christophe, Macrae, Finlay A, Winship, Ingrid M, Buchanan, Daniel D
Published in Cancers (10.10.2023)
Published in Cancers (10.10.2023)
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Journal Article
Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications
Walker, Romy, Joo, Jihoon E, Mahmood, Khalid, Clendenning, Mark, Como, Julia, Preston, Susan G, Joseland, Sharelle, Pope, Bernard J, Medeiros, Ana B D, Murillo, Brenely V, Pachter, Nicholas, Sweet, Kevin, Spigelman, Allan D, Groves, Alexandra, Gleeson, Margaret, Bernatowicz, Krzysztof, Poplawski, Nicola, Andrews, Lesley, Healey, Emma, Gallinger, Steven, Grant, Robert C, Win, Aung K, Hopper, John L, Jenkins, Mark A, Torrezan, Giovana T, Rosty, Christophe, Macrae, Finlay A, Winship, Ingrid M, Buchanan, Daniel D, Georgeson, Peter
Published in medRxiv : the preprint server for health sciences (09.08.2024)
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Published in medRxiv : the preprint server for health sciences (09.08.2024)
Journal Article
Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival
Georgeson, Peter, Steinfelder, Robert S, Harrison, Tabitha A, Pope, Bernard J, Zaidi, Syed H, Qu, Conghui, Lin, Yi, Joo, Jihoon E, Mahmood, Khalid, Clendenning, Mark, Walker, Romy, Aglago, Elom K, Berndt, Sonja I, Brenner, Hermann, Campbell, Peter T, Cao, Yin, Chan, Andrew T, Chang-Claude, Jenny, Dimou, Niki, Doheny, Kimberly F, Drew, David A, Figueiredo, Jane C, French, Amy J, Gallinger, Steven, Giannakis, Marios, Giles, Graham G, Goode, Ellen L, Gruber, Stephen B, Gsur, Andrea, Gunter, Marc J, Harlid, Sophia, Hoffmeister, Michael, Hsu, Li, Huang, Wen-Yi, Huyghe, Jeroen R, Manson, JoAnn E, Moreno, Victor, Murphy, Neil, Nassir, Rami, Newton, Christina C, Nowak, Jonathan A, Obón-Santacana, Mireia, Ogino, Shuji, Pai, Rish K, Papadimitrou, Nikos, Potter, John D, Schoen, Robert E, Song, Mingyang, Sun, Wei, Toland, Amanda E, Trinh, Quang M, Tsilidis, Kostas, Ugai, Tomotaka, Um, Caroline Y, Macrae, Finlay A, Rosty, Christophe, Hudson, Thomas J, Winship, Ingrid M, Phipps, Amanda I, Jenkins, Mark A, Peters, Ulrike, Buchanan, Daniel D
Published in medRxiv : the preprint server for health sciences (30.01.2024)
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Published in medRxiv : the preprint server for health sciences (30.01.2024)
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A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome
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, Buchanan, Daniel D
Published in medRxiv : the preprint server for health sciences (01.03.2023)
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Published in medRxiv : the preprint server for health sciences (01.03.2023)
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