BRCA testing in unaffected young women in the United States, 2006-2017

Cancer. 2020 Jan 15;126(2):337-343. doi: 10.1002/cncr.32536. Epub 2019 Sep 30.


Background: The discovery of the BRCA gene in the 1990s created an opportunity for individualized cancer prevention. BRCA testing in young women before cancer onset enables early detection of those with an increased cancer risk and creates an opportunity to offer lifesaving prophylactic procedures and medications. This study assessed trends in BRCA testing in women younger than 40 years without diagnosed breast or ovarian cancer (unaffected young women [UYW]) for cancer prevention between 2006 and 2017 in the United States.

Methods: This study included 93,278 adult women 18 to 65 years old with insurance claims for BRCA testing between 2006 and 2017 from the de-identified Optum Clinformatics Data Mart database. The data contained medical claims and administrative information from privately insured individuals in the United States. The proportion of BRCA testing in UYW younger than 40 years among adult women aged 18 to 65 years who received BRCA testing was assessed.

Results: In 2006, only 10.5% of the tests were performed in UYW. The proportion of BRCA tests performed in UYW increased significantly to 25.5% in 2017 (annual percentage change for the 2006-2017 period, 6.9; 95% confidence interval, 6.4-7.3; P < .001). The increased trend in the proportion of BRCA tests in UYW significantly differed by region of residence and family history of breast or ovarian cancer.

Conclusions: Over the past decade, there was increased use of BRCA testing for cancer prevention. Additional efforts are needed to maximize the early detection of women with BRCA pathogenic variants so that these cancers may be prevented.

Keywords: BRCA testing; breast cancer; mutation carrier; ovarian cancer; pathogenic variant carrier; primary prevention; unaffected.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Administrative Claims, Healthcare / statistics & numerical data
  • Adolescent
  • Adult
  • Aged
  • BRCA1 Protein / genetics*
  • BRCA2 Protein / genetics*
  • Breast Neoplasms / genetics
  • Breast Neoplasms / prevention & control*
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing / standards
  • Genetic Testing / statistics & numerical data*
  • Genetic Testing / trends
  • Heterozygote
  • Humans
  • Medical History Taking
  • Middle Aged
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / prevention & control*
  • Practice Guidelines as Topic
  • United States
  • Young Adult


  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein
  • BRCA2 protein, human