Girardi, F;
Barnes, DR;
Barrowdale, D;
Frost, D;
Brady, AF;
Miller, C;
Henderson, A;
Donaldson, A;
Murray, A;
Brewer, C;
et al.
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
(2018)
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.
Genet Med, 20 (12).
pp. 1575-1582.
ISSN 1530-0366
https://doi.org/10.1038/gim.2018.44
SGUL Authors: Snape, Katie Mairwen Greenwood
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Abstract
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. Genetics in Medicine advance online publication, 22 March 2018; doi:10.1038/gim.2018.44.
Item Type: | Article | |||||||||||||||||||||
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Additional Information: | This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ © The Author(s) 2018 | |||||||||||||||||||||
Keywords: | Genetics & Heredity, 0604 Genetics, 1103 Clinical Sciences | |||||||||||||||||||||
SGUL Research Institute / Research Centre: | Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS) |
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Journal or Publication Title: | Genet Med | |||||||||||||||||||||
ISSN: | 1530-0366 | |||||||||||||||||||||
Language: | eng | |||||||||||||||||||||
Publisher License: | Creative Commons: Attribution 4.0 | |||||||||||||||||||||
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PubMed ID: | 29565421 | |||||||||||||||||||||
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URI: | https://openaccess.sgul.ac.uk/id/eprint/109703 | |||||||||||||||||||||
Publisher's version: | https://doi.org/10.1038/gim.2018.44 |
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