Proceedings of the fifth international RASopathies symposium: When development and cancer intersect

Katherine A Rauen, Lisa Schoyer, Lisa Schill, Beth Stronach, John Albeck, Brage S Andresen, Hélène Cavé, Michelle Ellis, Steven M Fruchtman, Bruce D Gelb, Christopher C Gibson, Karen Gripp, Erin Hefner, William Y C Huang, Maxim Itkin, Bronwyn Kerr, Corinne M Linardic, Martin McMahon, Beverly Oberlander, Ethan PerlsteinNancy Ratner, Leslie Rogers, Annette Schenck, Suma Shankar, Stanislav Shvartsman, David A Stevenson, Edward C Stites, Philip J S Stork, Cheng Sun, Marc Therrien, Erik M Ullian, Brigitte C Widemann, Erika Yeh, Giuseppe Zampino, Martin Zenker, William Timmer, Frank McCormick

Research output: Contribution to journalConference articleCommunication

Abstract

This report summarizes and highlights the fifth International RASopathies Symposium: When Development and Cancer Intersect, held in Orlando, Florida in July 2017. The RASopathies comprise a recognizable pattern of malformation syndromes that are caused by germ line mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. Because of their common underlying pathogenetic etiology, there is significant overlap in their phenotypic features, which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, gastrointestinal and ocular abnormalities, neurological and neurocognitive issues, and a predisposition to cancer. The RAS pathway is a well-known oncogenic pathway that is commonly found to be activated in somatic malignancies. As in somatic cancers, the RASopathies can be caused by various pathogenetic mechanisms that ultimately impact or alter the normal function and regulation of the MAPK pathway. As such, the RASopathies represent an excellent model of study to explore the intersection of the effects of dysregulation and its consequence in both development and oncogenesis.

Original languageEnglish
JournalAmerican Journal of Medical Genetics Part A
Volume176
Issue number12
Pages (from-to)2924-2929
ISSN1552-4833
DOIs
Publication statusPublished - Dec 2018
Event5th International RASopathies Symposium - Renaissance Orlando Hotel, Orlando, United States
Duration: 28. Jul 201730. Jul 2017

Conference

Conference5th International RASopathies Symposium
LocationRenaissance Orlando Hotel
Country/TerritoryUnited States
CityOrlando
Period28/07/201730/07/2017

Keywords

  • Costello syndrome
  • Legius syndrome
  • Noonan syndrome
  • RAS/MAPK
  • RASopathies
  • cardio-facio-cutaneous syndrome
  • clinical trial
  • neurofibromatosis type 1
  • signal transduction pathway
  • therapy

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