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 journalArticle

3 Scopus citations

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 (US)
Pages (from-to)2924-2929
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number12
DOIs
StatePublished - Dec 2018

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Rauen, K. A., Schoyer, L., Schill, L., Stronach, B., Albeck, J., Andresen, B. S., Cavé, H., Ellis, M., Fruchtman, S. M., Gelb, B. D., Gibson, C. C., Gripp, K., Hefner, E., Huang, W. Y. C., Itkin, M., Kerr, B., Linardic, C. M., McMahon, M., Oberlander, B., ... McCormick, F. (2018). Proceedings of the fifth international RASopathies symposium: When development and cancer intersect. American Journal of Medical Genetics, Part A, 176(12), 2924-2929. https://doi.org/10.1002/ajmg.a.40632