Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer

por Elsayed, Fadwa A., Grolleman, Judith E., Ragunathan, Abiramy, Buchanan, Daniel D., van Wezel, Tom, de Voer, Richarda M.
Publicado 2020

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 hosp...

por 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, Taylor, Natalie
Publicado 2022

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

por 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.
Publicado 2023

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

por 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.
Publicado 2023

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

por 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.
Publicado 2023

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study

por Davidson, Aimee L., Dressel, Uwe, Norris, Sarah, Canson, Daffodil M., Glubb, Dylan M., Fortuno, Cristina, Hollway, Georgina E., Parsons, Michael T., Vidgen, Miranda E., Holmes, Oliver, Koufariotis, Lambros T., Lakis, Vanessa, Leonard, Conrad, Wood, Scott, Xu, Qinying, McCart Reed, Amy E., Pickett, Hilda A., Al-Shinnag, Mohammad K., Austin, Rachel L., Burke, Jo, Cops, Elisa J., Nichols, Cassandra B., Goodwin, Annabel, Harris, Marion T., Higgins, Megan J., Ip, Emilia L., Kiraly-Borri, Catherine, Lau, Chiyan, Mansour, Julia L., Millward, Michael W., Monnik, Melissa J., Pachter, Nicholas S., Ragunathan, Abiramy, Susman, Rachel D., Townshend, Sharron L., Trainer, Alison H., Troth, Simon L., Tucker, Katherine M., Wallis, Mathew J., Walsh, Maie, Williams, Rachel A., Winship, Ingrid M., Newell, Felicity, Tudini, Emma, Pearson, John V., Poplawski, Nicola K., Mar Fan, Helen G., James, Paul A., Spurdle, Amanda B., Waddell, Nicola, Ward, Robyn L.
Publicado 2023