Ontology highlight
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.
SUBMITTER: Girardi F
PROVIDER: S-EPMC6033314 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Girardi Fabio F Barnes Daniel R DR Barrowdale Daniel D Frost Debra D Brady Angela F AF Miller Claire C Henderson Alex A Donaldson Alan A Murray Alex A Brewer Carole C Pottinger Caroline C Evans D Gareth DG Eccles Diana D Lalloo Fiona F Gregory Helen H Cook Jackie J Eason Jacqueline J Adlard Julian J Barwell Julian J Ong Kai Ren KR Walker Lisa L Izatt Louise L Side Lucy E LE Kennedy M John MJ Tischkowitz Marc M Rogers Mark T MT Porteous Mary E ME Morrison Patrick J PJ Eeles Ros R Davidson Rosemarie R Snape Katie K Easton Douglas F DF Antoniou Antonis C AC
Genetics in medicine : official journal of the American College of Medical Genetics 20180322 12
<h4>Purpose</h4>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.<h4>Methods</h4>We used cohort analysis to estimate incidences, cumulative risks, and standardized incidence ratios (SIRs).<h4>Results</h4> ...[more]