Clinical Edge

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

Genetic Testing for Breast Cancer

Tracking its rise from 2006 through 2013

All young women with breast cancer (BC) should be counseled and offered genetic testing, consistent with the National Comprehensive Cancer Network guidelines, according to a study of 897 women aged ≤ 40 years at BC diagnosis. Researchers found:

  • 87.0% of women reported BRCA testing by 1 year after BC diagnosis.
  • Frequency of testing increased among women diagnosed from 2006 (76.9% of 39 women) through December 31, 2013 (95.3% of 129 women).
  • Among untested women, 31.6% did not report discussion of the possibility that they might have a mutation with a physician and/or genetic counselor, and 36.8% were thinking of testing in the future.
  • 29.8% of 831 women said that knowledge or concern about genetic risk influenced surgical treatment decisions; among these women, 86.4% of 88 mutation carriers and 51.2% of 160 noncarriers chose bilateral mastectomy.
  • Fewer women reported that systemic treatment decisions were influenced by genetic risk concern.

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.