Abstract
In families screened for mutations in the BRCA1 or BRCA2 genes and found to have a segregating mutation the breast cancer risk for women shown not to carry the family-specific mutation might be at above “average” risk. We assessed the risk of breast cancer in a clinic based cohort of 725 female proven noncarriers in 239 BRCA1 and BRCA2 families compared with birth-matched controls from the Danish Civil Registration System. Prospective analysis showed no significantly increased risk for breast cancer in noncarriers with a hazard ratio of 0.67 [95 % confidence interval (CI) 0.32–1.42, p = 0.29] for all family members who tested negative and 0.87 (95 % CI 0.38–1.97, p = 0.73) for non-carries who were first-degree relatives of mutation carriers. Proven noncarriers from BRCA1 and BRCA2 families have no markedly increased risk for breast cancer compared to the general population, and our data do not suggest targeted breast cancer surveillance for noncarriers from BRCA1 and BRCA2 families.
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Acknowledgments
The study was financially supported by Aase and Ejnar Danielsen’s Fund, Region of Southern Denmark, and the Research Council, Vejle Hospital. We would like to acknowledge Prof. Ake Borg, Institute of Clinical Sciences, Division of Oncology and Pathology, Lund University, Sweden; Assistant Professor Mads Thomassen, Department of Clinical Genetics, Odense University Hospital, Odense; Inge Søkilde Pedersen, Ph.D, Department of Molecular Diagnostics, Aalborg; Stig E. Bojesen, Chief Physician, PhD, DMSc, Department of Biochemistry, Herlev Hospital, University Hospital; and Thomas van Overeem Hansen, Biochemist, Ph.D., Genomic Medicine, Rigshospitalet, Copenhagen, Denmark for data from gene tests.
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Nielsen, H.R., Petersen, J., Krogh, L. et al. No evidence of increased breast cancer risk for proven noncarriers from BRCA1 and BRCA2 families. Familial Cancer 15, 523–528 (2016). https://doi.org/10.1007/s10689-016-9898-0
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DOI: https://doi.org/10.1007/s10689-016-9898-0