Zobrazeno 1 - 10
of 48
pro vyhledávání: '"INGRID M. WINSHIP"'
Autor:
Aimee L. Davidson, Uwe Dressel, Sarah Norris, Daffodil M. Canson, Dylan M. Glubb, Cristina Fortuno, Georgina E. Hollway, Michael T. Parsons, Miranda E. Vidgen, Oliver Holmes, Lambros T. Koufariotis, Vanessa Lakis, Conrad Leonard, Scott Wood, Qinying Xu, Amy E. McCart Reed, Hilda A. Pickett, Mohammad K. Al-Shinnag, Rachel L. Austin, Jo Burke, Elisa J. Cops, Cassandra B. Nichols, Annabel Goodwin, Marion T. Harris, Megan J. Higgins, Emilia L. Ip, Catherine Kiraly-Borri, Chiyan Lau, Julia L. Mansour, Michael W. Millward, Melissa J. Monnik, Nicholas S. Pachter, Abiramy Ragunathan, Rachel D. Susman, Sharron L. Townshend, Alison H. Trainer, Simon L. Troth, Katherine M. Tucker, Mathew J. Wallis, Maie Walsh, Rachel A. Williams, Ingrid M. Winship, Felicity Newell, Emma Tudini, John V. Pearson, Nicola K. Poplawski, Helen G. Mar Fan, Paul A. James, Amanda B. Spurdle, Nicola Waddell, Robyn L. Ward
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)
Abstract Background Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk f
Externí odkaz:
https://doaj.org/article/e7517b7792c7450392b54b67bde9ca87
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:
Emma Anthony, Jeanette C. Reece, Elasma Milanzi, Jihoon E. Joo, Sharelle Joseland, Mark Clendenning, Amanda Whelan, Susan Parry, Julie Arnold, Varnika Vijay, Nathan Atkinson, John L. Hopper, Aung K. Win, Mark A. Jenkins, Finlay A. Macrae, Ingrid M. Winship, Christophe Rosty, Daniel D. Buchanan, for the Australasian Coloretal Cancer Family Registry, the Family Cancer Clinics of Australia, the Genetics of Colonic Polyposis Study
Publikováno v:
BMC Gastroenterology, Vol 22, Iss 1, Pp 1-16 (2022)
Abstract Objective The unknown aetiology of Serrated Polyposis Syndrome (SPS) impedes risk prediction and prevention. We investigated risk factors for SPS, overall and stratified by World Health Organization (WHO)2010 clinical criteria and by colorec
Externí odkaz:
https://doaj.org/article/9cf5bb5091fb475bbfbb429ea283ae3d
Autor:
Sowmya Jonnagadla, Sharelle L. Joseland, Sibel Saya, Nicole den Elzen, Joanne Isbister, Ingrid M. Winship, Daniel D. Buchanan
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 20, Iss 1, Pp 1-11 (2022)
Abstract Background A suspected Lynch syndrome (SLS) diagnosis is made when a tumor exhibits DNA mismatch repair deficiency but cannot be definitively assigned to an inherited or non-inherited etiology. This diagnosis poses challenges for healthcare
Externí odkaz:
https://doaj.org/article/d865cc6207444ab1a3a498c7336b9a40
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:
Anne-Laure Renault, James G. Dowty, Jason A. Steen, Shuai Li, Ingrid M. Winship, Graham G. Giles, John L. Hopper, Melissa C. Southey, Tú Nguyen-Dumont
Publikováno v:
Breast Cancer Research, Vol 24, Iss 1, Pp 1-6 (2022)
Abstract Background Multigene panel tests for breast cancer predisposition routinely include ATM as it is now a well-established breast cancer predisposition gene. Methods We included ATM in a multigene panel test applied to the Australian Breast Can
Externí odkaz:
https://doaj.org/article/b587e9aeae7c48c2bef8c3aebeb0aa2a
Autor:
Natasha Stembridge, Brent J. Doolan, Mark E. Lavallee, Ingrid Hausser, F. Michael Pope, Suranjith L. Seneviratne, Ingrid M. Winship, Nigel P. Burrows
Publikováno v:
Skin Health and Disease, Vol 3, Iss 1, Pp n/a-n/a (2023)
Abstract The Ehlers‐Danlos syndromes (EDS) comprise a group of inherited connective tissue disorders presenting with features of skin hyperextensibility, joint hypermobility, abnormal scarring and fragility of skin, blood vessels and some organs. T
Externí odkaz:
https://doaj.org/article/668588c1b9e34e8ba4f5d77464d1c653
Autor:
Brent J. Doolan, Mark E. Lavallee, Ingrid Hausser, Jane R. Schubart, F. Michael Pope, Suranjith L. Seneviratne, Ingrid M. Winship, Nigel P. Burrows
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
IntroductionThe Ehlers-Danlos syndromes (EDS) comprise a group of inherited connective tissue disorders presenting with variable fragility to skin, soft tissue, and certain internal organs, which can cause significant complications, particularly arte
Externí odkaz:
https://doaj.org/article/18f8aec2d51a4392925c4c490b791a47
Autor:
Clara L. Gaff, Ingrid M. Winship, Susan M. Forrest, David P. Hansen, Julian Clark, Paul M. Waring, Mike South, Andrew H. Sinclair
Publikováno v:
npj Genomic Medicine, Vol 2, Iss 1, Pp 1-9 (2017)
Abstract Organisations and governments seeking to implement genomics into clinical practice face numerous challenges across multiple, diverse aspects of the health care system. It is not sufficient to tackle any one aspect in isolation: to create a s
Externí odkaz:
https://doaj.org/article/ecdf879dcb8d45b98118434e30c38fcc