Comprehensive Genomic Analysis of Normal and Cancer Cells Elucidates the Elevated Mutational Burden in Cancer
Cristian Tomasetti, PhD, senior author, and Sophie Penisson, PhD, first author, on a study by City of Hope and TGen published in Cancer Research reveals that mutation burdens in healthy organs vary dramatically between individuals, with some healthy people carrying up to eight times more DNA mutations than others. Analyzing sequencing data across seven organs, researchers found cancer cells average four times as many mutations as normal tissue. The findings support the “tail hypothesis”—that individuals with naturally higher mutation rates face a greater risk of developing cancer. Measuring these baseline mutation rates could transform personalized cancer risk assessment, early detection, and prevention strategies.
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Comprehensive Genomic Analysis of Normal and Cancer Cells Elucidates the Elevated Mutational Burden in Cancer
Circulating extracellular vesicle proteomics identifies and validates a signature of advanced fibrosis in MASH
TGen researchers Patrick Pirrotte, PhD, first author, and Johanna DiStefano, PhD, co-senior author, along with researchers from Johns Hopkins University, have identified an 11-protein signature in plasma-derived extracellular vesicles (EVs) that detects advanced liver scarring (fibrosis) in patients with fatty liver disease (MASLD). Published in Cell & Bioscience, the study analyzed biopsy-confirmed adults and found that EV protein abundance rises with fibrosis severity, successfully distinguishing stage 3 severe fibrosis from stage 4 cirrhosis. Because traditional blood tests struggle with precision and biopsies are invasive, this EV-based biomarker offers a clearer snapshot of liver damage and disease progression. While clinical tests require further technical development, the findings provide key therapeutic targets.
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Circulating extracellular vesicle proteomics identifies and validates a signature of advanced fibrosis in MASH