TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members

Autor: Rachel, Delahunty, Linh, Nguyen, Stuart, Craig, Belinda, Creighton, Dinuka, Ariyaratne, Dale W, Garsed, Elizabeth, Christie, Sian, Fereday, Lesley, Andrews, Alexandra, Lewis, Sharne, Limb, Ahwan, Pandey, Joy, Hendley, Nadia, Traficante, Natalia, Carvajal, Amanda B, Spurdle, Bryony, Thompson, Michael T, Parsons, Victoria, Beshay, Mila, Volcheck, Timothy, Semple, Richard, Lupat, Kenneth, Doig, Jiaan, Yu, Xiao Qing, Chen, Anna, Marsh, Christopher, Love, Sanela, Bilic, Maria, Beilin, Cassandra B, Nichols, Christina, Greer, Yeh Chen, Lee, Susan, Gerty, Lynette, Gill, Emma, Newton, Julie, Howard, Rachel, Williams, Christie, Norris, Andrew N, Stephens, Erin, Tutty, Courtney, Smyth, Shona, O'Connell, Thomas, Jobling, Colin J R, Stewart, Adeline, Tan, Stephen B, Fox, Nicholas, Pachter, Jason, Li, Jason, Ellul, Gisela, Mir Arnau, Mary-Anne, Young, Louisa, Gordon, Laura, Forrest, Marion, Harris, Karen, Livingstone, Jane, Hill, Georgia, Chenevix-Trench, Paul A, Cohen, Penelope M, Webb, Michael, Friedlander, Paul, James, David, Bowtell, Kathryn, Alsop

Publikováno v: Journal of Clinical Oncology. 40:2036-2047

PURPOSE Tubo-ovarian cancer (TOC) is a sentinel cancer for BRCA1 and BRCA2 pathogenic variants (PVs). Identification of a PV in the first member of a family at increased genetic risk (the proband) provides opportunities for cancer prevention in other

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d66ca017250ec5b60c0dd8770470563
https://doi.org/10.1200/jco.21.02108

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

Autor: Maie Walsh, Joshua Schultz, Sebastian Lunke, Paul A. James, Tianxin Pan, Zornitza Stark, Ilias Goranitis, Zanfina Ademi, Anna Jarmolowicz, Mathew Wallis, Dennis Velakoulis, Belinda Creighton, Aamira Huq, Michael C Fahey, Kirsty West, Dean Phelan, Yael Prawer, J. Taylor, Martin B. Delatycki, Melanie O'Keefe, Amy L Schneider, Clara Gaff, Ella Lynch, Yana Smagarinsky, Haloom Rafehi, Eloise Uebergang, Dhamidhu Eratne, Rebecca Purvis, Heather Chalinor, Chloe A Stutterd, Emma I. Krzesinski, Melissa Martyn, Kirby Siemering, Patrick Kwan, Samuel F. Berkovic, Nikki Gelfand, Belinda Chong, Tamar Saks, Melanie Bahlo, Richard J. Leventer, Adrienne Sexton

Currently there is no secured ongoing funding in Australia for next generation sequencing (NGS) such as exome sequencing (ES) for adult neurological disorders. Studies have focused on paediatric populations in research or highly specialised settings,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7036dfbb78e1ed249f7d35d0651934a7
https://hdl.handle.net/10453/154663