Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Fabio Girardi, Daniel R. Barnes, Daniel Barrowdale, Debra Frost, Angela F. Brady, Claire Miller, Alex Henderson, Alan Donaldson, Alex Murray, Carole Brewer, Caroline Pottinger, D. Gareth Evans, Diana Eccles, , Fiona Lalloo, Helen Gregory, Jackie Cook, Jacqueline Eason, Julian Adlard, Julian Barwell, Kai-ren Ong, Lisa Walker, Louise Izatt, Lucy E. Side, M. John Kennedy, Marc Tischkowitz, Mark T. Rogers, Mary E. Porteous, Patrick J. Morrison, Ros Eeles, Rosemarie Davidson, Katie Snape, Douglas F. Easton, Antonis C. Antoniou

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. More... »

PAGES

1575-1582

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/gim.2018.44

    DOI

    http://dx.doi.org/10.1038/gim.2018.44

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1101675351

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29565421


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    467 schema:name Genomic Medicine, Manchester Academic Health Sciences Centre, Division of Evolution and Genomic Science, Manchester University, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
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    469 https://www.grid.ac/institutes/grid.7107.1 schema:alternateName University of Aberdeen
    470 schema:name North of Scotland Regional Genetics Service, NHS Grampian & University of Aberdeen, Foresterhill, Aberdeen, UK
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    472 https://www.grid.ac/institutes/grid.8756.c schema:alternateName University of Glasgow
    473 schema:name Department of Clinical Genetics, South Glasgow University Hospitals, Glasgow, UK
    474 rdf:type schema:Organization
     




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