Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Romy Walker"'
Autor:
Jihoon E. Joo, Khalid Mahmood, Romy Walker, Peter Georgeson, Ida Candiloro, Mark Clendenning, Julia Como, Sharelle Joseland, Susan Preston, Lise Graversen, Mathilda Wilding, Michael Field, Michelle Lemon, Janette Wakeling, Helen Marfan, Rachel Susman, Joanne Isbister, Emma Edwards, Michelle Bowman, Judy Kirk, Emilia Ip, Lynne McKay, Yoland Antill, John L. Hopper, Alex Boussioutas, Finlay A. Macrae, Alexander Dobrovic, Mark A. Jenkins, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan
Publikováno v:
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-17 (2023)
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 promot
Externí odkaz:
https://doaj.org/article/205aa9e2d6d045aca7e0fc588c972c5c
Autor:
Romy Walker, Khalid Mahmood, Jihoon E. Joo, Mark Clendenning, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G. Preston, Yoland Antill, Rachel Austin, Alex Boussioutas, Michelle Bowman, Jo Burke, Ainsley Campbell, Simin Daneshvar, Emma Edwards, Margaret Gleeson, Annabel Goodwin, Marion T. Harris, Alex Henderson, Megan Higgins, John L. Hopper, Ryan A. Hutchinson, Emilia Ip, Joanne Isbister, Kais Kasem, Helen Marfan, Di Milnes, Annabelle Ng, Cassandra Nichols, Shona O’Connell, Nicholas Pachter, Bernard J. Pope, Nicola Poplawski, Abiramy Ragunathan, Courtney Smyth, Allan Spigelman, Kirsty Storey, Rachel Susman, Jessica A. Taylor, Linda Warwick, Mathilda Wilding, Rachel Williams, Aung K. Win, Michael D. Walsh, Finlay A. Macrae, Mark A. Jenkins, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan, for the Family Cancer Clinics of Australia
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-15 (2023)
Abstract Routine screening of tumors for DNA mismatch repair (MMR) deficiency (dMMR) in colorectal (CRC), endometrial (EC) and sebaceous skin (SST) tumors leads to a significant proportion of unresolved cases classified as suspected Lynch syndrome (S
Externí odkaz:
https://doaj.org/article/0b22829c0e7441adb30b2047fa688507
Autor:
Peter Georgeson, Tabitha A. Harrison, Bernard J. Pope, Syed H. Zaidi, Conghui Qu, Robert S. Steinfelder, Yi Lin, Jihoon E. Joo, Khalid Mahmood, Mark Clendenning, Romy Walker, Efrat L. Amitay, Sonja I. Berndt, Hermann Brenner, Peter T. Campbell, Yin Cao, Andrew T. Chan, Jenny Chang-Claude, Kimberly F. Doheny, David A. Drew, Jane C. Figueiredo, Amy J. French, Steven Gallinger, Marios Giannakis, Graham G. Giles, Andrea Gsur, Marc J. Gunter, Michael Hoffmeister, Li Hsu, Wen-Yi Huang, Paul Limburg, JoAnn E. Manson, Victor Moreno, Rami Nassir, Jonathan A. Nowak, Mireia Obón-Santacana, Shuji Ogino, Amanda I. Phipps, John D. Potter, Robert E. Schoen, Wei Sun, Amanda E. Toland, Quang M. Trinh, Tomotaka Ugai, Finlay A. Macrae, Christophe Rosty, Thomas J. Hudson, Mark A. Jenkins, Stephen N. Thibodeau, Ingrid M. Winship, Ulrike Peters, Daniel D. Buchanan
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
Germline biallelic pathogenic MUTYH variants predispose patients to colorectal cancer (CRC); however, approaches to identify MUTYH variant carriers are lacking. Here, the authors evaluated mutational signatures that could distinguish MUTYH carriers i
Externí odkaz:
https://doaj.org/article/333b1f57f922432c8d0bf0c51f25cb70
Autor:
Romy Walker, Khalid Mahmood, Julia Como, Mark Clendenning, Jihoon E. Joo, Peter Georgeson, Sharelle Joseland, Susan G. Preston, Bernard J. Pope, James M. Chan, Rachel Austin, Jasmina Bojadzieva, Ainsley Campbell, Emma Edwards, Margaret Gleeson, Annabel Goodwin, Marion T. Harris, Emilia Ip, Judy Kirk, Julia Mansour, Helen Mar Fan, Cassandra Nichols, Nicholas Pachter, Abiramy Ragunathan, Allan Spigelman, Rachel Susman, Michael Christie, Mark A. Jenkins, Rish K. Pai, Christophe Rosty, Finlay A. Macrae, Ingrid M. Winship, Daniel D. Buchanan
Publikováno v:
Cancers, Vol 15, Iss 20, p 4925 (2023)
Germline pathogenic variants in the DNA mismatch repair (MMR) genes (Lynch syndrome) predispose to colorectal (CRC) and endometrial (EC) cancer. Lynch syndrome specific tumor features were evaluated for their ability to support the ACMG/InSiGHT frame
Externí odkaz:
https://doaj.org/article/365fa317084546c48c22bf8661df7f94
Autor:
Romy Walker, Mark Clendenning, Jihoon E. Joo, Jessie Xue, Khalid Mahmood, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G. Preston, James M. Chan, Mark A. Jenkins, Christophe Rosty, Finlay A. Macrae, Stephanie Di Palma, Ainsley Campbell, Ingrid M. Winship, Daniel D. Buchanan
Germline pathogenic variants in the DNA mismatch (MMR) repair genes (Lynch syndrome) predispose to colorectal (CRC) and endometrial (EC) cancer. However, mosaic variants in the MMR genes have been rarely described. We identified a likely de novo mosa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e503c71425ad7d89885cfe469cae0158
https://doi.org/10.21203/rs.3.rs-2815229/v1
https://doi.org/10.21203/rs.3.rs-2815229/v1
Autor:
Peter Georgeson, Robert S. Steinfelder, Tabitha A. Harrison, Bernard J. Pope, Syed H. Zaidi, Conghui Qu, Yi Lin, Jihoon E. Joo, Khalid Mahmood, Mark Clendenning, Romy Walker, Elom K Aglago, Sonja I. Berndt, Hermann Brenner, Peter T. Campbell, Yin Cao, Andrew T. Chan, Jenny Chang-Claude, Niki Dimou, Kimberly F. Doheny, David A. Drew, Jane C. Figueiredo, Amy J. French, Steven Gallinger, Marios Giannakis, Graham G. Giles, Ellen L Goode, Stephen B Gruber, Andrea Gsur, Marc J. Gunter, Sophia Harlid, Michael Hoffmeister, Li Hsu, Wen-Yi Huang, Jeroen R Huyghe, JoAnn E. Manson, Victor Moreno, Neil Murphy, Rami Nassir, Christina C. Newton, Jonathan A. Nowak, Mireia Obón-Santacana, Shuji Ogino, Rish K. Pai, Nikos Papadimitrou, John D. Potter, Robert E. Schoen, Mingyang Song, Wei Sun, Amanda E. Toland, Quang M. Trinh, Kostas Tsilidis, Tomotaka Ugai, Caroline Y Um, Finlay A. Macrae, Christophe Rosty, Thomas J. Hudson, Ingrid M. Winship, Amanda I. Phipps, Mark A. Jenkins, Ulrike Peters, Daniel D. Buchanan
Background and AimsThe microbiome has long been suspected of a role in colorectal cancer (CRC) tumorigenesis. The mutational signature SBS88 mechanistically links CRC development with the strain ofEscherichia coliharboring thepksisland that produces
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c1ec2f7610e28f7b8edfed8cbf05aa9
https://doi.org/10.1101/2023.03.10.23287127
https://doi.org/10.1101/2023.03.10.23287127
Autor:
Rebecca Purvis, Daniel D. Buchanan, James M Chan, Ryan Hutchinson, Andrew J. Metz, Jihoon E. Joo, Romy Walker, Nathan Atkinson, Sharelle Joseland, Julia Como, Ingrid Winship, Galina Konycheva, Mark Clendenning, Mark A. Jenkins, Christophe Rosty, Varnika Vijay, Bernard J. Pope, Peter Georgeson, Catherine Beard, Finlay A. Macrae, Susan Parry, Julie Arnold, Susan Preston, Khalid Mahmood
Publikováno v:
Familial Cancer. 21:399-413
Germline loss-of-function variants in AXIN2 are associated with oligodontia and ectodermal dysplasia. The association between colorectal cancer (CRC) and colonic polyposis is less clear despite this gene now being included in multi-gene panels for CR
Autor:
Romy Walker, Peter Georgeson, Khalid Mahmood, Jihoon E. Joo, Enes Makalic, Mark Clendenning, Julia Como, Susan Preston, Sharelle Joseland, Bernard J. Pope, Ryan Hutchinson, Kais Kasem, Michael D. Walsh, Finlay A. Macrae, Aung K. Win, John L. Hopper, Dmitri Mouradov, Peter Gibbs, Oliver M. Sieber, Dylan E. O’Sullivan, Darren R. Brenner, Steven Gallinger, Mark A. Jenkins, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan
Identifying tumor DNA mismatch repair deficiency (dMMR) is important for precision medicine. We assessed tumor features, individually and in combination, in whole-exome sequenced (WES) colorectal cancers (CRCs) and in panel sequenced CRCs, endometria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::401a06189ff6ef2e3e997697db4edbeb
https://doi.org/10.1101/2022.06.20.22276419
https://doi.org/10.1101/2022.06.20.22276419
Autor:
Finlay A. Macrae, Amanda B. Spurdle, Romy Walker, Christophe Rosty, Bernard J. Pope, Ryan Hutchinson, Jihoon E. Joo, Susan Preston, Ingrid Winship, Peter Georgeson, John L. Hopper, Mark Clendenning, Daniel D. Buchanan, Mark A. Jenkins, Julia Como, Aung Ko Win, Harindra Jayasekara, Khalid Mahmood, Sharelle Joseland
Publikováno v:
J Mol Diagn
Patients in whom mismatch repair (MMR)-deficient cancer develops in the absence of pathogenic variants of germline MMR genes or somatic hypermethylation of the MLH1 gene promoter are classified as having suspected Lynch syndrome (SLS). Germline whole
Autor:
Peter Georgeson, Tabitha A. Harrison, Bernard J. Pope, Syed H. Zaidi, Conghui Qu, Robert S. Steinfelder, Yi Lin, Jihoon E. Joo, Khalid Mahmood, Mark Clendenning, Romy Walker, Efrat L. Amitay, Sonja I. Berndt, Hermann Brenner, Peter T. Campbell, Yin Cao, Andrew T. Chan, Jenny Chang-Claude, Kimberly F. Doheny, David A. Drew, Jane C. Figueiredo, Amy J. French, Steven Gallinger, Marios Giannakis, Graham G. Giles, Andrea Gsur, Marc J. Gunter, Michael Hoffmeister, Li Hsu, Wen-Yi Huang, Paul Limburg, JoAnn E. Manson, Victor Moreno, Rami Nassir, Jonathan A. Nowak, Mireia Obón-Santacana, Shuji Ogino, Amanda I. Phipps, John D. Potter, Robert E. Schoen, Wei Sun, Amanda E. Toland, Quang M. Trinh, Tomotaka Ugai, Finlay A. Macrae, Christophe Rosty, Thomas J. Hudson, Mark A. Jenkins, Stephen N. Thibodeau, Ingrid M. Winship, Ulrike Peters, Daniel D. Buchanan
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Universidad de Barcelona
Carriers of germline biallelic pathogenic variants in the MUTYH gene have a high risk of colorectal cancer. We test 5649 colorectal cancers to evaluate the discriminatory potential of a tumor mutational signature specific to MUTYH for identifying bia