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

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

Journal article

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

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 Show all

Genome Medicine: medicine in the post-genomic era | BMC | Published : 2023

DOI: 10.1186/s13073-023-01223-1

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 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. To identify pathogenic disease-causing variants explaining participant presentation, germline whole-genome sequencing (WGS) and a comprehensive cancer virtual gene panel analysis were undertaken. Results:..

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University of Melbourne Researchers

Alison Trainer Author

Ingrid Winship Author

Paul James Author

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Funding Acknowledgements

The authors would like to thank all participants included in this study. We would also like to thank Dr Gillian Mitchell for her expert advice and assistance with helping in establishment of the ICCon project. M.J.M and N.K.P (Adult Genetics Unit, Adelaide) would like to thank their database manager Ms Melissa Paoletti for assistance to identify potentially eligible participants.