Author Interviews, Cancer Research, Genetic Research / 15.04.2025
Icahn Mount Sinai Study Evaluates How Germline Mutations Shape Tumors
MedicalResearch.com Interview with:
Myvizhi Esai Selvan, PhD
Instructor of Genetics and Genomics
Zeynep H. Gümüş, PhD
Associate Professor
Icahn School of Medicine at Mount Sinai
MedicalResearch.com: What is the background for this study?
Response: The germline genome of each individual person has a unique combination of millions of genetic variants that influence virtually all biological processes throughout life, including cancer evolution. In this study, we have investigated the impact of germline variants – genetic defects one is born with – on gene expression and protein abundance in tumors across cancer types.
MedicalResearch.com: Would you describe the technique of precision peptidomics?
Response: We have leveraged a cohort of 1,064 patients with multiple cancer types to explore the impact of germline variations on cancer-relevant genes through multiple-omics layers: from DNA to RNA, protein abundance and post-translational modifications. To assess the effects of coding variants and their association with cognate proteins, we used precision peptidomics, which is the quantification of peptides carrying genetic variants from individual patients. Through this approach, we mapped 337,469 protein coding germline variants onto patient peptides, revealing their potential impact on protein modifications, protein stability, allele-specific expression, and protein structure by leveraging the relevant protein databases.
(more…)