EP362: Mosaic RAS family in-frame insertion variants in patients with hemangiomas and vascular malformations

Abstract

The RAS/MAPK pathway is involved in the cell cycle, cell growth, differentiation, and senescence. Germline variants that result in RAS/MAPK pathway dysregulation are associated with congenital diseases with overlapping clinical features, known as RASopathies. Mosaic variants in RAS genes, HRAS, KRAS, and NRAS, have been recently described in disorders of somatic mosaicism (DoSM), including vascular tumors, vascular malformations, nevus sebaceus, keratinocytic epidermal nevi, congenital nevi, segmental overgrowth, and digital anomalies.