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

Autor:	MacInnis RJ; Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.; Centre for Epidemiology and Biostatistics, Melbourne School of Population & Global Health, The University of Melbourne, Parkville, Victoria, Australia., Liao Y; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York., Knight JA; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada.; Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada., Milne RL; Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.; Centre for Epidemiology and Biostatistics, Melbourne School of Population & Global Health, The University of Melbourne, Parkville, Victoria, Australia.; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia., Whittemore AS; Departments of Health Research and Policy and Biomedical Data Science, Stanford University School of Medicine, Stanford., Chung WK; Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York.; Departments of Pediatrics and Medicine, Columbia University, New York., Leoce N; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York., Buchsbaum R; Department of Biostatistics, Mailman School of Public Health, Columbia University, New York., Zeinomar N; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York., Dite GS; Centre for Epidemiology and Biostatistics, Melbourne School of Population & Global Health, The University of Melbourne, Parkville, Victoria, Australia., Southey MC; Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.; Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, Victoria, Australia., Goldgar D; Department of Medicine and Huntsman Cancer Institute, University of Utah Health, Salt Lake City, UT., Giles GG; Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.; Centre for Epidemiology and Biostatistics, Melbourne School of Population & Global Health, The University of Melbourne, Parkville, Victoria, Australia.; Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Victoria, Australia., McLachlan SA; Department of Medicine, St Vincent's Hospital, The University of Melbourne, Parkville, Victoria, Australia.; Department of Medical Oncology, St Vincent's Hospital, Fitzroy, Victoria, Australia., Weideman PC; Centre for Epidemiology and Biostatistics, Melbourne School of Population & Global Health, The University of Melbourne, Parkville, Victoria, Australia., Nesci S; Department of Medical Oncology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Friedlander ML; Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales, Australia.; Department of Medical Oncology, Prince of Wales Hospital, Randwick, New South Wales, Australia., Glendon G; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada., Andrulis IL; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.; The Research Department, The Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.; Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., John EM; Department of Medicine and Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA., Daly MB; Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA., Buys SS; Department of Medicine and Huntsman Cancer Institute, University of Utah Health, Salt Lake City, UT., Phillips KA; Centre for Epidemiology and Biostatistics, Melbourne School of Population & Global Health, The University of Melbourne, Parkville, Victoria, Australia.; Department of Medical Oncology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia., Hopper JL; Centre for Epidemiology and Biostatistics, Melbourne School of Population & Global Health, The University of Melbourne, Parkville, Victoria, Australia., Terry MB; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York.; Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York.
Jazyk:	angličtina
Zdroj:	Journal of the National Cancer Institute [J Natl Cancer Inst] 2020 Apr 01; Vol. 112 (4), pp. 418-422.
DOI:	10.1093/jnci/djz194
Abstrakt:	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%-56.7% for women who tested negative but whose relatives had not been tested (n = 1363; 63 breast cancers). Although replication studies with larger sample sizes are needed, until these models are recalibrated for women who test negative and have no relatives tested, caution should be used when considering changing the breast cancer risk management intensity of such women based on risk estimates from these models. (© The Author(s) 2019. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.)
Databáze:	MEDLINE
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