Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing

MC Southey; JG Dowty; M Riaz; JA Steen; AL Renault; K Tucker; J Kirk; P James; I Winship; N Pachter; N Poplawski; S Grist; DJ Park; BJ Pope; K Mahmood; F Hammet; M Mahmoodi; H Tsimiklis; D Theys; A Rewse; A Willis; A Morrow; C Speechly; R Harris; R Sebra; E Schadt; P Lacaze; JJ McNeil; GG Giles; RL Milne; JL Hopper; T Nguyen-Dumont

Journal article

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing

MC Southey, JG Dowty, M Riaz, JA Steen, AL Renault, K Tucker, J Kirk, P James, I Winship, N Pachter, N Poplawski, S Grist, DJ Park, BJ Pope, K Mahmood, F Hammet, M Mahmoodi, H Tsimiklis, D Theys, A Rewse Show all

Npj Breast Cancer | Published : 2021

DOI: 10.1038/s41523-021-00360-3

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Abstract

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing are urgently required. Most prior research has been based on women selected for high-risk features and more data is needed to make inference about breast cancer risk for women unselected for family history, an important consideration of population screening. We tested 1464 women diagnosed with breast cancer and 862 age-matched controls participating in the Australian Breast Cancer Family Study (ABCFS), and 6549 healthy, older Australian women enroled in the ASPirin in Reducing Events in the Elderly (ASPREE) study for rare germline variants using a 24-gene-panel. Odds ratios (..

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University of Melbourne Researchers

Melissa Southey Author

James Dowty Author

Paul James Author

Ingrid Winship Author

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Awarded by National Institutes of Health

Funding Acknowledgements

We thank all the participants in this study, the entire team of the Australian Breast Cancer Family Study/Registry (BCFR-AU) and past and current investigators. This work was supported by the U.S. National Institute of Health (grant number RO1CA159868). The ABCFS was supported in Australia by the National Health and Medical Research Council, the New South Wales Cancer Council, the Victorian Health Promotion Foundation, the Victorian Breast Cancer Research Consortium, Cancer Australia, and the National Breast Cancer Foundation. The six sites of the Breast Cancer Family Registry (BCFR) were supported by grant UM1 CA164920 from the U.S. National Cancer Institute. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the BCFR, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government or the BCFR. T.N-.D is a National Breast Cancer Foundation (Australia) Career Development Fellow (ECF-17-001), B.J.P. is the recipient of a Victorian Health and Medical Research Fellowship and MCS is a National Health and Medical Research Council (NMHRC, Australia) Senior Research Fellow (APP1155163). This work was supported by an NHMRC Program grant (APP1074383), The National Breast Cancer Foundation (BRA-STRAP; NT-15-016), NHMRC European Union Collaborative Research Grant (APP1101400) and Monash University, Melbourne, Australia.