Format

Send to

Choose Destination
Am J Med Genet A. 2018 Dec;176(12):2924-2929. doi: 10.1002/ajmg.a.40632. Epub 2018 Oct 10.

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

Author information

1
Department of Pediatrics, University of California Davis, MIND Institute, Sacramento, California.
2
RASopathies Network, Altadena, California.
3
Department of Pediatrics, University of California Davis, Davis, California.
4
Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense, Denmark.
5
Genetics Department, Hôpitaux de Paris, Hôpital Robert Debré, Paris-Diderot University, Paris, France.
6
Noonan UK, London, United Kingdom.
7
Onconova Therapeutics, Newtown, Pennsylvania.
8
Departments of Pediatrics and Genetics and Genomic Sciences, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.
9
Recursion Pharmaceuticals, Salt Lake City, Utah.
10
Departments of Division of Medical Genetics, AI duPont Hospital for Children, Wilmington, Delaware.
11
Costello Syndrome Family Network, Creve Coeur, Illinois.
12
Department of Chemistry, University of California Berkeley, Berkeley, California.
13
Department of Radiology, Penn Medicine, Philadelphia, Pennsylvania.
14
Department of Genetic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
15
Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina.
16
Departments of McMahon, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah.
17
Neurofibromatosis Network, Murrieta, California.
18
Perlara, South San Francisco, California.
19
Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
20
CFC International, Roseburg, Oregon.
21
Departments of Ratner, Radboud University Medical Center, Nijmegen, Netherlands.
22
Department of Chemical and Biological Engineering, Princeton University, Princeton, New Jersey.
23
Department of Pediatrics, Stanford University, Palo Alto, California.
24
Departments of Integrative Biology Laboratory, Salk Institute for Biological Studies, La Jolla, California.
25
Departments of Stork, Oregon Health & Sciences University, Portland, Oregon.
26
Department of Stem Cell and Regenrative Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts.
27
Department of Pathology and Cell Biology, University of Montreal, Montreal, Quebec, Canada.
28
Department of Ophthalmology, Neuroscience Program, University of California, San Francisco, San Francisco, California.
29
Departments of Peiatric Oncology Branch, National Cancer Institute, Center for Cancer Research, Pediatric Oncology Branch, Bethesda, Maryland.
30
Departments of Department of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy.
31
Departments of Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
32
Departments of Cancer Therapy Evaluation Program, National Cancer Institute, Cancer Therapy Evaluation Program (CTEP), Bethesda, Maryland.
33
Departments of McCormick, RAS Initiative, Frederick National Lab, Frederick, Maryland.

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.

KEYWORDS:

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

PMID:
30302932
PMCID:
PMC6312476
DOI:
10.1002/ajmg.a.40632
[Indexed for MEDLINE]
Free PMC Article

Publication types, MeSH terms, Substance, Grant support

Publication types

MeSH terms

Substance

Grant support

Supplemental Content

Full text links

Icon for Wiley Icon for PubMed Central
Loading ...
Support Center