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

被引：9
|
作者：
Rauen, Katherine A. [1 ]
Schoyer, Lisa [2 ]
Schill, Lisa [2 ]
Stronach, Beth [2 ]
Albeck, John [3 ]
Andresen, Brage S. [4 ,5 ]
Cave, Helene [6 ]
Ellis, Michelle [7 ]
Fruchtman, Steven M. [8 ]
Gelb, Bruce D. [9 ,10 ]
Gibson, Christopher C. [11 ]
Gripp, Karen [12 ]
Hefner, Erin [13 ]
Huang, William Y. C. [14 ]
Itkin, Maxim [15 ]
Kerr, Bronwyn [16 ]
Linardic, Corinne M. [17 ]
McMahon, Martin [18 ]
Oberlander, Beverly [19 ]
Perlstein, Ethan [20 ]
Ratner, Nancy [21 ]
Rogers, Leslie [22 ]
Schenck, Annette [23 ]
Shankar, Suma [3 ]
Shvartsman, Stanislav [24 ]
Stevenson, David A. [25 ]
Stites, Edward C. [26 ]
Stork, Philip J. S. [27 ]
Sun, Cheng [28 ]
Therrien, Marc [29 ]
Ullian, Erik M. [30 ]
Widemann, Brigitte C. [31 ]
Yeh, Erika [30 ]
Zampino, Giuseppe [32 ]
Zenker, Martin [33 ]
Timmer, William [34 ]
McCormick, Frank [30 ,35 ]
机构：
[1] Univ Calif Davis, MIND Inst, Dept Pediat, Sacramento, CA 95817 USA
[2] RASopathies Network, 244 Taos Rd, Altadena, CA 91001 USA
[3] Univ Calif Davis, Dept Pediat, Davis, CA 95616 USA
[4] Univ Southern Denmark, Dept Biochem & Mol Biol, Odense, Denmark
[5] Univ Southern Denmark, Villum Ctr Bioanalyt Sci, Odense, Denmark
[6] Paris Diderot Univ, Genet Dept, Hop Paris, Hop Robert Debre, Paris, France
[7] Noonan UK, London, England
[8] Onconova Therapeut, Newtown, PA USA
[9] Icahn Sch Med Mt Sinai, Dept Pediat, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA
[10] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA
[11] Recurs Pharmaceut, Salt Lake City, UT USA
[12] Alfred I DuPont Hosp Children, Dept Div Med Genet, Wilmington, DE USA
[13] Costello Syndrome Family Network, Creve Coeur, IL USA
[14] Univ Calif Berkeley, Dept Chem, Berkeley, CA 94720 USA
[15] Penn Med, Dept Radiol, Philadelphia, PA USA
[16] Manchester Univ NHS Fdn Trust, Dept Genet Med, Manchester, Lancs, England
[17] Duke Univ, Dept Pediat, Sch Med, Durham, NC 27706 USA
[18] Univ Utah, Huntsman Canc Inst, Dept McMahon, Salt Lake City, UT USA
[19] Neurofibromatosis Network, Murrieta, CA USA
[20] Perlara, San Francisco, CA USA
[21] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA
[22] CFC Int, Roseburg, OR USA
[23] Radboud Univ Nijmegen, Med Ctr, Dept Ratner, Nijmegen, Netherlands
[24] Princeton Univ, Dept Chem & Biol Engn, Princeton, NJ 08544 USA
[25] Princeton Univ, Dept Chem & Biol Engn, Princeton, NJ 08544 USA
[26] Salk Inst Biol Studies, Dept Integrat Biol Lab, 10010 N Torrey Pines Rd, La Jolla, CA 92037 USA
[27] Oregon Hlth & Sci Univ, Dept Stork, Portland, OR 97201 USA
[28] Beth Israel Deaconess Med Ctr, Dept Stem Cell & Regenrat Med, Boston, MA 02215 USA
[29] Univ Montreal, Dept Pathol & Cell Biol, Montreal, PQ, Canada
[30] Univ Calif San Francisco, Dept Ophthalmol, Neurosci Program, San Francisco, CA USA
[31] NCI, Dept Peiatr Oncol Branch, Ctr Canc Res, Pediat Oncol Branch, Bethesda, MD 20892 USA
[32] Univ Cattolica Sacro Cuore, Dept Dept Med & Surg, Rome, Italy
[33] Univ Hosp Magdeburg, Dept Inst Human Genet, Magdeburg, Germany
[34] NCI, Dept Canc Therapy Evaluat Program, CTEP, Bethesda, MD 20892 USA
[35] Frederick Natl Lab, Dept McCormick, RAS Initiat, Frederick, MD USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2018年 / 176卷 / 12期
基金：
美国国家卫生研究院;
关键词：
cardio-facio-cutaneous syndrome; clinical trial; Costello syndrome; Legius syndrome; neurofibromatosis type 1; Noonan syndrome; RAS/MAPK; RASopathies; signal transduction pathway; therapy;
D O I：
10.1002/ajmg.a.40632
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
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页码：2924 / 2929
页数：6
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