Prospective Evaluation of Universal BRCA Testing for Women with Triple-Negative Breast Cancer
Menée auprès de 395 patientes atteintes d'un cancer du sein triple négatif et ayant reçu une consultation de conseil génétique, cette étude évalue l'intérêt, du point de vue du taux de variants pathogènes BRCA identifiés, de généraliser l'utilisation des tests génétiques BRCA chez les femmes âgées de plus de 60 ans
BACKGROUND : Limited published literature exists on women with triple-negative breast cancer (TNBC) diagnosed over the age of 60 years with BRCA pathogenic variants. Our study determined whether the rate of BRCA pathogenic variants in a prospective cohort of TNBC patients outside the definition of current clinical GT guidelines warrants a change in recommendations.
METHODS : Prospective study of 395 women with TNBC underwent genetic counseling and 380 (96.2%) underwent clinical BRCA GT regardless of age of diagnosis beginning January 2014 to October 2015 at The University of Texas MD Anderson Cancer Center, Houston. TNBC patients over the age of 60 years who did not meet clinical GT guidelines had comprehensive sequencing and large rearrangement GT as part of the research protocol.
RESULTS : Fifty-one of 380 (13.4%) women with TNBC, who underwent clinical BRCA GT, were BRCA positive. Of the 86 patients diagnosed at the age of > 60 years and underwent GT, only 2 (2.3%) were positive for BRCA. These two patients would have met clinical testing criteria due to family or ancestral history.
CONCLUSIONS : Our study does not support universal BRCA testing for TNBC patients diagnosed > 60 years as their only risk factor for a BRCA pathogenic variant. Both of the positive BRCA patients > 60 years old identified would have met current NCCN criteria for testing. Therefore, our study demonstrates that the NCCN guidelines provide sufficient criteria for identifying BRCA pathogenic variants in women with TNBC at age ≤ 60 years.
JNCI Cancer Spectrum , article en libre accès, 2019