Multi-LC-MS Platform Plasma Steroidomic and Lipidomic Profile Analyses in BRCA1/2 Mutation Carriers and Breast Cancer Risk: A Retrospective Komen Tissue Bank Study

Could changes in the plasma lipidome provide insight into breast cancer risk before disease is diagnosed? BRCA1 and BRCA2 mutations are well-established genetic risk factors for breast cancer, but their connections to lipid and steroid hormone metabolism raise important questions about the metabolic changes that may accompany increased disease risk.

Join Dr. Facundo Fernandez as he explores these questions through a retrospective study of plasma samples from the Susan G. Komen Tissue Bank. This unique cohort includes samples collected from healthy women, including BRCA1/2 mutation carriers and individuals who later developed breast cancer, providing an opportunity to investigate metabolic differences that may be present years before diagnosis.

Learn how non-targeted lipidomic and steroidomic analyses across multiple LC-MS platforms can provide a deeper view of these complex plasma profiles. The discussion will examine data generated using the Thermo Scientific™ Orbitrap™ Exploris™ 240 Mass Spectrometer and the new Thermo Scientific™ Orbitrap™ Tribrid™ Apex™ Mass Spectrometer, including how increased sensitivity and MS/MS acquisition can expand feature detection and support more detailed investigation of lipid signatures associated with BRCA1/2 status and subsequent breast cancer development.

Dr. Fernandez will also discuss the analytical challenges that emerge as deeper MS coverage reveals more features, including the growing importance of spectral databases, confident annotation, and pathway analysis. Following the presentation, he will be joined for a live Q&A by Elisabeth Schwiebert, Ph.D. Student in his lab at the University of Georgia. Attendees will have the opportunity to ask questions about the research, methods, data analysis, and practical aspects of the work.

Who should attend?

• Researchers and scientists working in metabolomics, lipidomics, and steroidomics 
• Cancer researchers studying breast cancer risk, BRCA1/2 mutations, and disease-associated metabolic changes 
• Scientists involved in biomarker discovery and translational research 
• Mass spectrometry researchers applying high-resolution LC-MS to plasma and large-cohort studies 
• Researchers interested in connecting lipidomic profiles with disease risk and future clinical outcomes 

What you can expect to learn

• How retrospective plasma cohorts can help investigate metabolic changes that precede breast cancer diagnosis 
• The connections being explored among BRCA1/2 mutation status, lipid metabolism, steroid hormones, and breast cancer risk 
• The impact of increased sensitivity and MS/MS acquisition on lipid feature detection and annotation 
• How deeper lipidomic coverage can inform differential analysis and multivariate models of disease-associated metabolic profiles 
• Why spectral databases, annotation workflows, and pathway analysis become increasingly important as analytical depth increases 
• Practical perspectives, including hands-on insight into the study and analytical workflow 

Presenter: Elisabeth "Issy" Schwiebert (Ph.D. Candidate, Chemistry, University of Georgia)

Elisabeth Schwiebert is a research scientist in the Fernández group at Georgia Tech. Her work uses mass spectrometry and metabolomics to study complex biological systems, with an emphasis on developing analytical workflows for small-molecule characterization and generating deeper insight into metabolites and their roles in health and disease.

Presenter: Facundo Fernandez (Regents’ Professor and Vasser-Woolley Chair, Georgia Institute of Technology, University of Georgia)

Facundo Fernández is a Regents’ Professor and Vasser Woolley Foundation Chair in Bioanalytical Chemistry at Georgia Tech. His research focuses on mass spectrometry, metabolomics, and ionization technologies, with applications spanning human health and disease, including the development of new analytical approaches for complex biological samples.

Moderator: Breana Murphy (Regional Marketing Manager LSMS-North America, Thermo Fisher Scientific)