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Genetic Testing Uptake in Breast Cancer Patients

Genet Med; ePub 2018 Jun 6; Nilsson, et al

Testing uptake among unselected breast cancer patients offered germline BRCA1/2 pathogenic variant testing varied across different subgroups according to patient-related factors, a recent study found. Pretest information was provided by a standardized invitation letter instead of in-person counseling. Predictors of testing uptake were analyzed using multivariate logistic regressions. Researchers found:

  • The overall uptake of testing was 67% (539 of 805 patients).
  • Low uptake rates were found for patients aged ≥80 years (33%), and patients born outside of Europe (37%).
  • In adjusted analysis, age ≥80 years, psychiatric disorders, occupation requiring at least 3 years of university or college education, and breast cancer or ovarian cancer in first-degree or second-degree relatives were independently associated with uptake of BRCA1/2 testing.
  • Somatic comorbidity in patients aged <70 years was associated with lower testing uptake.


Nilsson MP, Nilsson ED, Silfverberg B, Borg Å, Loman N. Written pretest information and germline BRCA1/2 pathogenic variant testing in unselected breast cancer patients: Predictors of testing uptake. [Published online ahead of print June 6, 2018]. Genet Med. doi:10.1038/s41436-018-0021-9.