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https://hdl.handle.net/2440/132639
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Type: | Journal article |
Title: | Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility |
Author: | Tudini, E. Davidson, A.L. Dressel, U. Andrews, L. Antill, Y. Crook, A. Field, M. Gattas, M. Harris, R. Kirk, J. Pachter, N. Salmon, L. Susman, R. Townshend, S. Trainer, A.H. Tucker, K.M. Mitchell, G. James, P.A. Ward, R.L. Mar Fan, H. et al. |
Citation: | Journal of Medical Genetics, 2021; 58(12):853-858 |
Publisher: | BMJ Publishing Group |
Issue Date: | 2021 |
ISSN: | 0022-2593 1468-6244 |
Statement of Responsibility: | Emma Tudini, Aimee L Davidson, Uwe Dressel, Lesley Andrews, Yoland Antill, Ashley Crook, Michael Field, Michael Gattas, Rebecca Harris, Judy Kirk, Nicholas Pachter, Lucinda Salmon, Rachel Susman, Sharron Townshend, Alison H Trainer, Katherine M Tucker, Gillian Mitchell, Paul A James, Robyn L Ward, Helen Mar Fan, Nicola K Poplawski, Amanda B Spurdle |
Abstract: | Background The strength of evidence supporting the validity of gene-disease relationships is variable. Hereditary cancer has the additional complexity of low or moderate penetrance for some confirmed disease-associated alleles. Methods To promote national consistency in interpretation of hereditary cancer/tumour gene test results, we requested opinions of representatives from Australian Family Cancer Clinics regarding the clinical utility of 157 genes initially collated for a national research project. Viewpoints were sought by initial survey, face-to- face workshop and follow-up survey. Subsequent review was undertaken by the eviQ Cancer Genetics Reference Committee, a national resource providing evidence-based and consensus-driven cancer treatment protocols. Results Genes were categorised by clinical actionability as: relevant for testing on presentation of common cancer/tumour types (n=45); relevant for testing in the context of specific rare phenotypes (n=74); insufficient clinical utility (n=34) or contentious clinical utility (n=3). Opinions for several genes altered during the study time frame, due to new information. Conclusion Through an iterative process, consensus was achieved on genes with clinical utility for hereditary cancer/tumour conditions in the Australian setting. This study highlighted need for regular review of gene-disease lists, a role assumed in Australia for hereditary cancer/tumour predisposition genes by the eviQ Cancer Genetics Reference Committee. |
Keywords: | Humans Neoplasms Genetic Predisposition to Disease Tumor Suppressor Proteins Pedigree Consensus Genetic Counseling Medical Oncology Germ-Line Mutation Family Health Australia Female Male Genetic Testing Genetic Association Studies Molecular Sequence Annotation |
Description: | Published Online First 9 November 2020 |
Rights: | © Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. |
DOI: | 10.1136/jmedgenet-2020-107140 |
Grant ID: | http://purl.org/au-research/grants/nhmrc/1113531 http://purl.org/au-research/grants/nhmrc/1061778 |
Published version: | http://dx.doi.org/10.1136/jmedgenet-2020-107140 |
Appears in Collections: | Paediatrics publications |
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