New proteogenomic research links germline variants to cancer progression
Peer-Reviewed Publication
Updates every hour. Last Updated: 29-Apr-2025 15:08 ET (29-Apr-2025 19:08 GMT/UTC)
A landmark study has revealed how inherited genetic variants, known as germline variants, play a critical role in the progression of cancer.
The research, conducted by a global consortium of scientists, including Kathleen J. Imbach and contributors from the Josep Carreras Leukaemia Research Institute (IJC), offers new insights into how these genetic factors influence molecular processes across a wide range of cancer types.
David A. Drew, PhD, of the Clinical & Translational Epidemiology Unit and Division of Gastroenterology at Massachusetts General Hospital, is the corresponding author of a paper published in Cellular and Molecular Gastroenterology and Hepatology, “Droplet vs. Picowell: Considerations for single-cell transcriptomic profiling of human colon biopsies
Researchers have demonstrated the potential of the innovative optical genome mapping (OGM) technique for the diagnosis, prognosis, and therapeutic management of multiple myeloma. This new study in The Journal of Molecular Diagnostics, published by Elsevier, details how this novel method can establish the cytogenomic profile of the tumor on a scale suitable for routine practice in cytogenetics laboratories.
CT scans may account for 5% of all cancers annually, according to a new study out of UC San Francisco that cautions against overusing and overdosing CTs.
The danger is greatest for infants, followed by children and adolescents. But adults also are at risk, since they are the most likely to get scans.
A new multicenter study by researchers at the Icahn School of Medicine at Mount Sinai, in collaboration with the National Cancer Institute-funded Clinical Proteomic Tumor Analysis Consortium (CPTAC) and colleagues around the world, has discovered that the genes we are born with—known as germline genetic variants—play a powerful, underappreciated role in how cancer develops and behaves. Published in the April 14 online issue of Cell [https://doi.org/10.1016/j.cell.2025.03.026], the study is the first to detail how millions of inherited genetic differences influence the activity of thousands of proteins within tumors. Drawing on data from more than 1,000 patients across 10 different cancer types, the research illustrates how a person’s unique genetic makeup can shape the biology of their cancer.