Breast Neoplasms study with RNA-Seq, WXS data on dbGaP (53 participants)

phs003576 — Proteogenomic Analysis of CALGB40601 (ALLIANCE) a Neoadjuvant Phase III    HER2-Positive Breast Cancer Trial

<p>80 frozen core needle biopsies from 54 <a href="https://www.ncbi.nlm.nih.gov/gene/2064">HER2</a>+ breast cancer patients from the CALGB 40601 trial (<a href="https://clinicaltrials.gov/study/NCT00770809">NCT00770809</a>) were processed for proteogenomic analysis to identify genes, proteins, and phosphosites associated with pathological complete response to neodjuvant anti-HER2 therapies. The final set included 22 patients treated with trastuzumab plus lapatinib in combination with pacletaxel (THL arm), 24 patients treated with trastuzumab in combination with pacletaxel (TH arm), and 8 patients treated lapatinib in combination with pacletaxel (TL arm). Principal findings of this study included identifying negative cases misdiagnosed as HER2+ that did not respond to targeted therapy and observing higher levels of two biomarker candidates in non-pCR tumors. Mass spec-based proteomics and phosphoproteomics data generated from 75 biopsies (all 54 patients) will be made available via the Proteomic Data Commons. Whole exome- (67 biopsies from 49 patients) and RNA-sequencing (52 biopsies from 39 patients) data for the subset profiled with proteogenomics will be made available through dbGaP, but genomic and transcriptomic profiling data for the whole cohort has previously been deposited (<a href="https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001570">phs001570</a>).<br></p>