Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling...

by 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
Published 2023-06-01

DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands

by 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
Published 2023-10-01

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome

by 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
Published 2023-04-01