Clinical Edge

Summaries of Must-Read Clinical Literature, Guidelines, and FDA Actions

BRCA1 and BRCA2 Mutation Testing

Examining the genetic risk in young women

In young women with breast cancer, rates of BRCA1 and BRCA2 mutation testing are increasing as a means to evaluate how concerns about genetic risk and use of genetic information affect subsequent treatment decisions. This according to a study of 897 women aged ≤40 years with breast cancer diagnosis. Researchers found:

• 87% of women reported BRCA testing by 1 year after breast cancer diagnosis, with frequency of testing increasing among women diagnosed from Aug. 1, 2006, through Dec. 31, 2013.

• Of 39 women diagnosed with breast cancer in 2006, 30 (76.9%) reported testing.

• In 2007, a slightly lower percentage of women (70.2%) reported testing; however, the proportion tested increased each subsequent year.

• Among untested women, 37 (31.6%) of 117 did not report discussion of the possibility that they might have a mutation with a physician and/or genetic counselor, and 43 (36.8%) of 117 were considering future testing.

• 248 (29.8%) of 831 women said that knowledge or concern about genetic risk influenced surgical treatment decisions.

Citation: Rosenberg SM, Ruddy KJ, Tamimi RM, et al. BRCA1 and BRCA2 mutation testing in young women with breast cancer. [Published online ahead of print February 11, 2016]. JAMA Oncol. doi: 10.1001/jamaoncol.2015.5941.