Prospective Evaluation of Universal BRCA Testing for Women With Triple-Negative Breast Cancer

• Published in: JNCI cancer spectrum Vol. 4; no. 2; p. pkaa002
• Main Authors: Emborgo, Trisha S, Saporito, Donika, Muse, Kimberly I, Barrera, Angelica M Gutierrez, Litton, Jennifer K, Lu, Karen H, Arun, Banu K
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 01-04-2020
• ISSN: 2515-5091; 2515-5091
• DOI: 10.1093/jncics/pkaa002

Limited published literature exists on women with triple-negative breast cancer (TNBC) diagnosed over the age of 60 years with breast cancer gene (
) pathogenic variants. Our study determined whether the rate of
pathogenic variants in a prospective cohort of TNBC patients outside the definition of current clinical genetic testing (GT) guidelines warrants a change in recommendations.
A prospective study of 395 women with TNBC underwent genetic counseling and 380 (96.2%) underwent clinical
GT regardless of age of diagnosis beginning January 2014 to October 2015 at The University of Texas MD Anderson Cancer Center, Houston. TNBC patients older than 60 years who did not meet clinical GT guidelines had comprehensive sequencing and large rearrangement GT as part of the research protocol.
Fifty-one of 380 (13.4%) women with TNBC who underwent clinical
GT were
positive. Of the 86 patients diagnosed at age over 60 years and underwent GT, only two (2.3%) were positive for
. These two patients would have met clinical testing criteria due to family or ancestral history.
Our study does not support universal
testing for TNBC patients diagnosed older than 60 years as their only risk factor for a
pathogenic variant. Both of the positive
patients older than 60 years identified would have met current National Comprehensive Cancer Network criteria for testing. Therefore, our study demonstrates that the National Comprehensive Cancer Network guidelines provide sufficient criteria for identifying
pathogenic variants in women with TNBC at 60 years or younger.