Multiple elements of the RAS pathway have been found to be mutated in human cancers and have therefore become a focus of intensive basic, translational and clinical research which will be highlighted in this session. In addition, clinical implications and future studies involving the Ras pathway will be discussed in each of the talks.
Dr. Li Qing will cover the basic biochemical and biophysical features of RAS proteins including RAS regulators and effectors in normal and diseased conditions. She will provide an overview of Ras-related mutations in RASopathies and cancer and describe genetic mouse models of RAS. Dr. Qing will also review RAS isoforms and subcellular localization and will discuss current strategies to target Ras signaling.
Dr. Christian Kratz will review the current state of knowledge of syndromes caused by germline or mosaic aberrations in components of the RAS-MAPK pathway. He will focus on underlying molecular aspects as well as the cancer risk and cancer spectrum associated with these conditions, which are grouped in the following categories: Noonan syndrome and related disorders; neurofibromatosis type 1 and related disorders; mosaic RASopathies; RAS-MAPK pathway dysregulation without a Noonan-like phenotype; and RAS-MAPK pathway defects without overactivation.
Dr. Carl Allen will discuss the role of RAS pathway activation in pathogenesis of histiocytic disorders including Langerhans cell histiocytosis and rare variants including juvenile xanthogranuloma, Erdheim-Chester disease and Rosai-Dorfman disease.
Qing Li, MD, PhD
Christian Kratz, MD
Carl Allen, MD,PhD
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