RESEARCH

CANCER AND AGING / SOMATIC MUTATIONS / EARLY CANCER DETECTION

Research at the Risques Lab focuses on the study of somatic mutations in aging and early cancer with the ultimate goal of enabling the development of better biomarkers for early cancer detection and prediction. Currently, our main projects involve the application of ultra-accurate deep sequencing to characterize age-related somatic mutations and their association with cancer risk; to detect cancer mutations in liquid biopsies, and to trace somatic evolution based on polyguanine tract mutations.

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STUDY OF AGE-RELATED SOMATIC MUTATIONS AND THEIR ASSOCIATION WITH CANCER RISK

Cancers evolve through mutation, selection, and clonal expansion. While mutations in human tumors have been extensively characterized, little is known about how mutations accumulate as we age and how they contribute to cancer formation. Using ultra-accurate sequencing, we discovered that cancer-likeTP53 mutations occur at very low level in individuals with and without cancer, and they increase with age. This indicates the action of somatic evolution through life and suggests that the measurement of these mutations might be an indication of future cancer risk.  We are currently working on proving this hypothesis.

DETECTION OF CANCER MUTATIONS IN LIQUID BIOPSIES

Our lab pioneered the use of Duplex Sequencing, an ultra-accurate next-generation sequencing method, to detect very low frequency mutations for early cancer detection. Specifically, we used Duplex Sequencing to detect high-grade serous ovarian cancer in peritoneal fluid and uterine lavage via ultra-accurate TP53 deep sequencing. We are currently expanding these initial studies with the ultimate goal of developing early cancer detection biomarkers for ovarian cancer, especially for the population of women at high risk.

POLYGUANINE TRACT PROFILING TO QUANTIFY CLONAL EXPANSIONS AND TRACE TUMOR EVOLUTION

Polyguanine tracts (PolyG) are highly mutagenic and thus they are an excellent genetic tool to trace cell lineage and detect clonal expansions. Our lab is applying ultra-accurate sequencing methods to the detection of PolyG mutations with multiple applications in the study of cancer evolution and early detection.

 

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