Considerations When Using Breast Cancer Risk Models for Women with Negative BRCA1/BRCA2 Mutation Results

RJ Macinnis; Y Liao; JA Knight; RL Milne; AS Whittemore; WK Chung; N Leoce; R Buchsbaum; N Zeinomar; GS Dite; MC Southey; D Goldgar; GG Giles; SA McLachlan; PC Weideman; S Nesci; ML Friedlander; G Glendon; IL Andrulis; EM John; MB Daly; SS Buys; KA Phillips; JL Hopper; MB Terry

Journal article

Considerations When Using Breast Cancer Risk Models for Women with Negative BRCA1/BRCA2 Mutation Results

RJ Macinnis, Y Liao, JA Knight, RL Milne, AS Whittemore, WK Chung, N Leoce, R Buchsbaum, N Zeinomar, GS Dite, MC Southey, D Goldgar, GG Giles, SA McLachlan, PC Weideman, S Nesci, ML Friedlander, G Glendon, IL Andrulis, EM John Show all

Journal of the National Cancer Institute | OXFORD UNIV PRESS INC | Published : 2020

DOI: 10.1093/jnci/djz194

Abstract

The performance of breast cancer risk models for women with a family history but negative BRCA1 and/or BRCA2 mutation test results is uncertain. We calculated the cumulative 10-year invasive breast cancer risk at cohort entry for 14 657 unaffected women (96.1% had an affected relative) not known to carry BRCA1 or BRCA2 mutations at baseline using three pedigree-based models (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm, BRCAPRO, and International Breast Cancer Intervention Study). During follow-up, 482 women were diagnosed with invasive breast cancer. Mutation testing was conducted independent of incident cancers. All models underpredicted risk by 26.3%-5..

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University of Melbourne Researchers

Robert MacInnis Author

Roger Milne Author

Gillian Dite Author

Melissa Southey Author

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Grants

Awarded by National Institutes of Health

Funding Acknowledgements

This work was supported by the US National Institute of Health (grant number RO1CA159868). The Australian Breast Cancer Family Registry (ABCFR) 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 BCFR were supported by grant UM1 CA164920 from the US National Cancer Institute. The content of thismanuscript 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 US Government or the BCFR. This work was supported by grants to kConFab and the kConFab Follow-Up Study from Cancer Australia (grant numbers 809195, 1100868), the Australian National Breast Cancer Foundation (grant number IF 17), the National Health and Medical Research Council (grant numbers 454508, 288704, 145684), the US National Institutes of Health (grant number RO1CA159868), the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia (grant numbers not applicable). KAP is a National Breast Cancer Foundation (Australia) Practitioner Fellow (grant number PRAC-17-004). JLH and MCS are National Health and Medical Research Council Senior Principal and Senior Research Fellows, respectively.