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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Jongmans, Marjolijn C. J. Hoogerbrugge, Peter M. Hilkens, Linda Flucke, Uta Van Der Burgt, Ineke Noordam, Kees Ruiterkamp-Versteeg, Martina Yntema, Helger G. Nillesen, Willy M. Ligtenberg, Marjolijn J. L. Van Kessel, Ad Geurts Kuiper, Roland P. Hoogerbrugge, Nicoline |
| Description | Country affiliation: Netherlands Author Affiliation: Jongmans MC ( Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. m.jongmans@antrg.umcn.nl) |
| Abstract | Noonan Syndrome (NS) is an autosomal dominant condition characterized by short stature, facial dysmorphisms, and congenital heart defects, and is caused by mutations in either PTPN11, KRAS, NRAS, SHOC2, RAF1, or SOS1. Furthermore, NS is known for its predisposition to develop cancer, particularly hematological malignancies and specific solid tumors, mainly neuroblastoma and embryonal rhabdomyosacroma (ERMS). Until recently, however, cancer predisposition in NS patients with SOS1 mutations was not reported. Here we present a NS patient with a de novo germline SOS1 mutation (p.Lys728Ile) and ERMS. This heterozygous germline mutation was homozygously present in the ERMS of this patient due to an acquired uniparental disomy (UPD) of chromosome 2. In addition, several other chromosomal aberrations were encountered, some of which are known to recurrently occur in ERMS. Sequence analysis of the SOS1 gene in 20 sporadic ERMS tumors failed to reveal any pathogenic mutations, implicating that SOS1 is not a major player in the development of this tumor outside the context of NS. © 2010 Wiley-Liss, Inc. |
| File Format | HTM / HTML |
| ISSN | 10452257 |
| Issue Number | 7 |
| Volume Number | 49 |
| e-ISSN | 10982264 |
| Journal | Genes, Chromosomes and Cancer |
| Language | English |
| Publisher | Wiley-Liss |
| Publisher Date | 2010-07-01 |
| Publisher Place | United States |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Molecular Biology Discipline Oncology Noonan Syndrome Genetics Rhabdomyosarcoma, Embryonal Genes, Ras Germ-line Mutation Heart Defects, Congenital Hematologic Neoplasms Heterozygote Humans Intracellular Signaling Peptides And Proteins Mutation Neoplasms Protein Tyrosine Phosphatase, Non-receptor Type 11 Uniparental Disomy Journal Article Research Support, Non-u.s. Gov't |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Cancer Research |
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