Rates of BRCA1/2 mutation testing among young survivors of breast cancer

Kenneth L. Kehl, Chan Shen, Jennifer K. Litton, Banu Arun, Sharon H. Giordano

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


Guidelines in the United States recommend consideration of testing for mutations in the BRCA1 and BRCA2 genes for women diagnosed with breast cancer under age 45. Identification of mutations among survivors has implications for secondary prevention and familial risk reduction. Although only 10 % of breast cancers are diagnosed under age 45, there are approximately 2.8 million breast cancer survivors in the United States, such that the young survivor population likely numbers in the hundreds of thousands. However, little is known about genetic testing rates in this population. We assessed trends in BRCA1/2 testing among breast cancer survivors who were under age 45 at diagnosis and were treated from 2005 to 2012. Using insurance claims from a national database (MarketScan), we identified incident breast cancer cases among (1) women aged ≤40 and (2) women aged 41–45. We measured BRCA1/2 testing using Kaplan–Meier analysis and Cox proportional hazards models. Among 26,985 patients analyzed, BRCA1/2 testing rates increased with each year of diagnosis from 2005 to 2012 (P < 0.001). However, among women treated in earlier years, testing rates did not approach those of patients treated later, even after extended follow-up (median time from surgery to testing among patients treated in 2005, not reached; median time to testing among patients treated in 2012, 0.2 months for women aged ≤40 and 1.0 month for women aged 41–45). Women aged 41–45 had lower rates than women aged ≤40 throughout the analysis period (P < 0.001 for each year). BRCA1/2 testing rates among young women with incident breast cancer increased substantially in the last decade. However, most survivors treated in earlier years have never been tested. Our results demonstrate a need to better incorporate genetic counseling into survivorship and primary care for this population.

Original languageEnglish (US)
Pages (from-to)165-173
Number of pages9
JournalBreast Cancer Research and Treatment
Issue number1
StatePublished - Jan 1 2016

All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research


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