Adam D. Pfefferle, PhD

Research Interests

Keywords: Cancer Genetics, Precision Oncology, Translational Genomics, Multi-Omic Profiling, Tumor Heterogeneity, Breast and Endometrial Cancer

Core Website

My research focuses on advancing cancer genetics and precision oncology through the development and application of high-throughput genomic technologies. With over 15 years of integrated expertise in molecular genomics and assay development, I specialize in generating high-quality molecular data from clinically challenging specimens, including limited, degraded, low-cellularity, and archival tissues that are often unsuitable for standard analyses.

As Director of the UNC Lineberger Translational Genomics Lab, I lead comprehensive multi-omic profiling using targeted DNA sequencing, RNA sequencing, and DNA methylation analysis. I have led the modernization of UNC’s custom targeted sequencing panel (UNCseq^TM), expanding it to nearly 1,400 genes with unique molecular identifiers, genome-wide copy number and loss-of-heterozygosity markers, microsatellite instability markers, and ancestry-informative markers. These improvements have enhanced detection of somatic alterations and characterization of genetic heterogeneity in clinically relevant FFPE specimens. I develop integrated workflows that combine these genomic approaches on individual patient samples, achieving consistently high success rates where commercial laboratories frequently decline samples due to stringent quality control requirements.

This infrastructure and expertise have enabled key translational studies. For example, using UNCseq^TM targeted DNA sequencing, we identified racial differences in the genomic landscape and clinical outcomes of endometrial cancer (Newton et al., 2025; PMID: 40687919). Multi-platform analysis of the CALGB 40603 trial and public triple-negative breast cancer datasets revealed important prognostic molecular features and refined our understanding of tumor heterogeneity in this aggressive subtype (Felsheim et al., 2025; PMID: 40056832). In collaboration with the UNC Endometrial SPORE, where I serve as Co-Director of the Biospecimen Pathology Core, and the Breast SPORE, my work supports large-scale projects investigating tumor heterogeneity, genomic drivers of racial disparities, predictors of immunotherapy response, and novel therapeutic targets in endometrial and breast cancers.

Drawing on my background in breast cancer genomics, I aim to translate these molecular insights into improved patient stratification and more effective precision oncology strategies by combining advanced genomic technologies with optimized biospecimen workflows and quality control.

Mentor Training:

• Carolina Veterans Resource Center Green Zone Training
• Carolina Women’s Center HAVEN Training
• Faculty Mentoring Workshop for Biomedical Researchers
• UNC SOSW Mental Health First Aid Training

Training Program Affiliations:

Publications

• PubMed
• Google Scholar

Adam D. Pfefferle in UNC Genetics News