TY - JOUR
T1 - Proceedings of the fifth international RASopathies symposium
T2 - When development and cancer intersect
AU - Rauen, Katherine A.
AU - Schoyer, Lisa
AU - Schill, Lisa
AU - Stronach, Beth
AU - Albeck, John
AU - Andresen, Brage S.
AU - Cavé, Hélène
AU - Ellis, Michelle
AU - Fruchtman, Steven M.
AU - Gelb, Bruce D.
AU - Gibson, Christopher C.
AU - Gripp, Karen
AU - Hefner, Erin
AU - Huang, William Y.C.
AU - Itkin, Maxim
AU - Kerr, Bronwyn
AU - Linardic, Corinne M.
AU - McMahon, Martin
AU - Oberlander, Beverly
AU - Perlstein, Ethan
AU - Ratner, Nancy
AU - Rogers, Leslie
AU - Schenck, Annette
AU - Shankar, Suma
AU - Shvartsman, Stanislav
AU - Stevenson, David A.
AU - Stites, Edward C.
AU - Stork, Philip J.S.
AU - Sun, Cheng
AU - Therrien, Marc
AU - Ullian, Erik M.
AU - Widemann, Brigitte C.
AU - Yeh, Erika
AU - Zampino, Giuseppe
AU - Zenker, Martin
AU - Timmer, William
AU - McCormick, Frank
N1 - Publisher Copyright:
© 2018 Wiley Periodicals, Inc.
PY - 2018/12
Y1 - 2018/12
N2 - 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.
AB - 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.
KW - Costello syndrome
KW - Legius syndrome
KW - Noonan syndrome
KW - RAS/MAPK
KW - RASopathies
KW - cardio-facio-cutaneous syndrome
KW - clinical trial
KW - neurofibromatosis type 1
KW - signal transduction pathway
KW - therapy
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U2 - 10.1002/ajmg.a.40632
DO - 10.1002/ajmg.a.40632
M3 - Article
C2 - 30302932
AN - SCOPUS:85054625782
SN - 1552-4825
VL - 176
SP - 2924
EP - 2929
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 12
ER -