RASopathies: From germline mutations to somatic and multigenic diseases

Quentin Riller; Frédéric Rieux-Laucat

doi:10.1016/j.bj.2021.06.004

RASopathies: From germline mutations to somatic and multigenic diseases

Biomed J. 2021 Aug;44(4):422-432. doi: 10.1016/j.bj.2021.06.004. Epub 2021 Jun 24.

Authors

Quentin Riller¹, Frédéric Rieux-Laucat²

Affiliations

¹ University of Paris, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, INSERM UMR 1163, Paris, France.
² University of Paris, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, INSERM UMR 1163, Paris, France. Electronic address: frederic.rieux-laucat@inserm.fr.

Abstract

The RAS-RAF-MEK-ERK signaling pathway is vital for different cellular mechanisms including cell proliferation, differentiation and apoptosis. This importance is highlighted by the high prevalence of mutations in RAS or related proteins of the pathway in cancers. More recently, development abnormalities have been linked to various germline mutations in this pathway and called RASopathies. Interestingly, rare disorders such as RAS-associated leukoproliferative diseases and histiocytosis have also been recently linked to multiple mutations in the same pathway, sometimes with the same mutation. This review will focus on germline RASopathies and rare somatic RASopathies and focus on how gain-of-function mutations in the same pathway can lead to various diseases.

Keywords: Germline; Histiocytes; Lymphoproliferation; Monocytes; RAS; Somatic.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Germ-Line Mutation / genetics
Humans
Mutation / genetics
Neoplasms*
Signal Transduction
ras Proteins* / genetics
ras Proteins* / metabolism

Substances

ras Proteins