Breast Neoplasms study with WXS data on dbGaP (24 participants)

phs002287 — Evolution of Resistance in ER+ Breast Cancer

<p>While the combination of endocrine therapy and <a href="https://www.ncbi.nlm.nih.gov/gene/1019">CDK4</a>/<a href="https://www.ncbi.nlm.nih.gov/gene/1021">CDK6</a> inhibitors has been shown to be effective in the metastatic ER+ breast cancer setting, to test whether it is effective in an earlier stage neoadjuvant setting, the FELINE trial (<a href="https://clinicaltrials.gov/ct2/show/NCT02712723">NCT02712723</a>) was established to test the efficacy of letrozole and ribociclib in a ER-positive, HER2-negative patients in a randomized, placebo-controlled, multicenter trial. Patients were randomized to one of three arms: those in Arm A received letrozole and placebo, Arm B letrozole and intermittent ribociclib, and Arm C letrozole and continuous ribociclib. Samples were collected at screening (Day 0), Cycle 1 (Day 14), and end of trial (Day 180). Samples from 24 patients, where cancer cells were present at Day 0 and one additional time point, were subjected to whole-exome sequencing profiling.</p>