Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.
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Date
2018-12-01ICR Author
Author
Girardi, F
Barnes, DR
Barrowdale, D
Frost, D
Brady, AF
Miller, C
Henderson, A
Donaldson, A
Murray, A
Brewer, C
Pottinger, C
Evans, DG
Eccles, D
EMBRACE,
Lalloo, F
Gregory, H
Cook, J
Eason, J
Adlard, J
Barwell, J
Ong, KR
Walker, L
Izatt, L
Side, LE
Kennedy, MJ
Tischkowitz, M
Rogers, MT
Porteous, ME
Morrison, PJ
Eeles, R
Davidson, R
Snape, K
Easton, DF
Antoniou, AC
Type
Journal Article
Metadata
Show full item recordAbstract
PURPOSE: BRCA1/BRCA2 predictive test negatives are proven noncarriers of a BRCA1/BRCA2 mutation that is carried by their relatives. The risk of developing breast cancer (BC) or epithelial ovarian cancer (EOC) in these women is uncertain. The study aimed to estimate risks of invasive BC and EOC in a large cohort of BRCA1/BRCA2 predictive test negatives. METHODS: We used cohort analysis to estimate incidences, cumulative risks, and standardized incidence ratios (SIRs). RESULTS: A total of 1,895 unaffected women were eligible for inclusion in the BC risk analysis and 1,736 in the EOC risk analysis. There were 23 incident invasive BCs and 2 EOCs. The cumulative risk of invasive BC was 9.4% (95% confidence interval (CI) 5.9-15%) by age 85 years and the corresponding risk of EOC was 0.6% (95% CI 0.2-2.6%). The SIR for invasive BC was 0.93 (95% CI 0.62-1.40) in the overall cohort, 0.85 (95% CI 0.48-1.50) in noncarriers from BRCA1 families, and 1.03 (95% CI 0.57-1.87) in noncarriers from BRCA2 families. The SIR for EOC was 0.79 (95% CI 0.20-3.17) in the overall cohort. CONCLUSION: Our results did not provide evidence for elevated risks of invasive BC or EOC in BRCA1/BRCA2 predictive test negatives.
Collections
Subject
EMBRACE
Humans
Breast Neoplasms
Ovarian Neoplasms
Genetic Predisposition to Disease
BRCA1 Protein
BRCA2 Protein
Risk Assessment
Risk Factors
Germ-Line Mutation
Adult
Aged
Middle Aged
Female
Research team
Oncogenetics
Language
eng
Date accepted
2018-01-12
License start date
2018-12
Citation
Genetics in medicine : official journal of the American College of Medical Genetics, 2018, 20 (12), pp. 1575 - 1582
Publisher
NATURE PUBLISHING GROUP