Does genetic testing detect high-risk breast cancer relapse?

Germline testing could be effective in determining which patients with a common subtype of breast cancer may experience relapse.

In a study published in JAMA Network Open, researchers assigned more than 400 patients with primary invasive lobular carcinoma to undergo germline multigene panel testing for pathogenic or likely pathogenic variants in over 100 genes.

The researchers found that nearly 5% of the patients presented with germline pathogenic variants in genes predisposing them to a higher risk of developing breast cancer — including ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NF1, FANCM, PALB2, RAD51C, RAD51D, STK11, TP53 and PTEN — which indicated that they had a greater likelihood of experiencing early breast cancer relapse and a lower risk of five-year breast cancer survival. There were no statistically significant differences in the likelihood of relapse on the basis of polygenic risk scores.

The findings could help identify a subgroup of patients with invasive lobular carcinoma who may benefit from genetic testing, genetic counseling, surveillance and personalized care strategies.

Read more: JAMA Network Open

The article presented here is intended to inform you about the broader media perspective on dentistry, regardless of its alignment with the ADA's stance. It is important to note that publication of an article does not imply the ADA's endorsement, agreement, or promotion of its content.