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
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 for developing cancer. METHODS: This multi-centre prospective study recruited 195 cancer-affected participants suspected to have a hereditary cancer syndrome for whom previous clinical targeted genetic testing was either not informative or not available...
September 19, 2023: Genome Medicine