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Discovering the causes of cancer and the means of prevention

Translating recent cancer genome discoveries to patient-tailored clinical intervention protocols - Elli Papaemmanuil, Ph.D.

DCEG Seminar

Dr. Papaemmanuil from Gerstner Sloan Kettering

Elli Papaemmanuil

Speaker: Elli Papaemmanuil, Ph.D., Assistant Attending and Computational Oncologist, Department of Epidemiology-Biostatistics, Cancer Biology and Genetics Program, Center for Molecular Oncology, Gerstner Sloan Kettering Faculty Member

Host: Dr. Montserrat Garcia-Closas, M.D., Dr.P.H., Deputy Director, Division of Cancer Epidemiology and Genetics, NCI

Description: In recent years, systematic genome-profiling studies have successfully delivered a near complete audit of the genes that cause cancer implicating >400 reoccurring mutated genes. These causative mutations have uncovered the molecular underpinnings that drive each tumor’s biology and by extension, its clinical features and treatment response, a concept underpinning the vision of precision medicine. Opportunities for direct translation of such findings include enhanced diagnostic accuracy through molecular profiling, early diagnosis, refined classification and importantly, personalized forecasts of a patient’s prognosis to support therapeutic decision-making. However, the complexity of cancer genomes, which often are genetically and clonally diverse, impose significant complications to the narrative of precision medicine. 

In collaboration with the German Austrian AML (acute myeloid leukemia) Study Group, Dr. Papaemmanuil has recently performed an in-depth molecular characterization of 1540 clinically annotated AML patients. Formal statistical modelling approaches were used to study the genomic and clinical inter-relationships and how these can inform patient tailored clinical management. She showed that large knowledge banks of well-annotated clinical cohorts, coupled with detailed molecular annotation can deliver refined risk estimates tailored to individual patient status, that inform the composite molecular architecture defining a patient’s tumor. Critical considerations arising from these findings will be discussed alongside emerging data on serial profiling and important novel therapeutic agents under clinical investigation.