Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

GTPase HRas

Das HRAS ist ein Onkogen, welches eine GTPase kodiert. Keimbahnmutationen führen zum autosomal dominanten Costello-Syndrom, während somatische Mutationen bei Schilddrüsenkarzinomen gesehen werden.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Folliculäres Schilddrüsenkarzinom
HRAS
NRAS

Referenzen:

1.

Goriely A et. al. (2009) Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

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2.

Dajee M et. al. (2003) NF-kappaB blockade and oncogenic Ras trigger invasive human epidermal neoplasia.

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3.

Popescu NC et. al. (1985) Chromosomal localization of three human ras genes by in situ molecular hybridization.

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4.

Matallanas D et. al. (2003) Differences on the inhibitory specificities of H-Ras, K-Ras, and N-Ras (N17) dominant negative mutants are related to their membrane microlocalization.

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5.

Nikiforova MN et. al. (2003) RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma.

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6.

Vasko V et. al. (2003) Specific pattern of RAS oncogene mutations in follicular thyroid tumors.

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7.

Rocks O et. al. (2005) An acylation cycle regulates localization and activity of palmitoylated Ras isoforms.

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8.

Johnson SM et. al. (2005) RAS is regulated by the let-7 microRNA family.

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9.

Hafner C et. al. (2012) Keratinocytic epidermal nevi are associated with mosaic RAS mutations.

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10.

Lim YH et. al. (2014) Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.

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11.

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12.

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13.

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14.

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15.

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16.

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17.

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18.

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19.

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20.

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21.

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22.

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23.

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24.

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25.

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26.

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27.

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28.

Der CJ et. al. (1982) Transforming genes of human bladder and lung carcinoma cell lines are homologous to the ras genes of Harvey and Kirsten sarcoma viruses.

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29.

Chang EH et. al. (1982) Human genome contains four genes homologous to transforming genes of Harvey and Kirsten murine sarcoma viruses.

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30.

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31.

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32.

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33.

Feinberg AP et. al. (1983) Mutation affecting the 12th amino acid of the c-Ha-ras oncogene product occurs infrequently in human cancer.

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34.

Jhanwar SC et. al. (1983) Localization of c-ras oncogene family on human germ-line chromosomes.

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35.

Fearon ER et. al. (1984) c-Ha-ras-1 oncogene lies between beta-globin and insulin loci on human chromosome 11p.

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36.

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37.

Muschel RJ et. al. (1983) The human c-ras1H oncogene: a mutation in normal and neoplastic tissue from the same patient.

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38.

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39.

Gibbs JB et. al. (1984) Autophosphorylation of v-Ha-ras p21 is modulated by amino acid residue 12.

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40.

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41.

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42.

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43.

Phelan CM et. al. (1996) Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus.

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44.

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45.

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46.

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47.

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48.

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49.

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50.

Oft M et. al. (2002) Metastasis is driven by sequential elevation of H-ras and Smad2 levels.

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51.

Weijzen S et. al. (2002) Activation of Notch-1 signaling maintains the neoplastic phenotype in human Ras-transformed cells.

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52.

Zhu JJ et. al. (2002) Ras and Rap control AMPA receptor trafficking during synaptic plasticity.

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53.

Zutt M et. al. (2003) Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets.

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54.

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55.

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56.

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57.

Kerr B et. al. (2006) Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

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58.

Sol-Church K et. al. (2006) Paternal bias in parental origin of HRAS mutations in Costello syndrome.

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59.

Zhang X et. al. (2006) The HBP1 transcriptional repressor participates in RAS-induced premature senescence.

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60.

Zampino G et. al. (2007) Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

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61.

Di Micco R et. al. (2006) Oncogene-induced senescence is a DNA damage response triggered by DNA hyper-replication.

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62.

van der Burgt I et. al. (2007) Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation.

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63.

Ancrile B et. al. (2007) Oncogenic Ras-induced secretion of IL6 is required for tumorigenesis.

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64.

Stites EC et. al. (2007) Network analysis of oncogenic Ras activation in cancer.

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65.

Denayer E et. al. (2008) Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.

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66.

Lo IF et. al. (2008) Severe neonatal manifestations of Costello syndrome.

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67.

Gripp KW et. al. (2008) Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

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68.

Schuhmacher AJ et. al. (2008) A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition.

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69.

McMurray HR et. al. (2008) Synergistic response to oncogenic mutations defines gene class critical to cancer phenotype.

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70.

Lu CW et. al. (2008) Ras-MAPK signaling promotes trophectoderm formation from embryonic stem cells and mouse embryos.

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71.

Kuniba H et. al. (2009) Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.

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72.

To MD et. al. (2008) Kras regulatory elements and exon 4A determine mutation specificity in lung cancer.

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73.

Piccione M et. al. (2009) A premature infant with Costello syndrome due to a rare G13C HRAS mutation.

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74.

Gough DJ et. al. (2009) Mitochondrial STAT3 supports Ras-dependent oncogenic transformation.

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75.

Gremer L et. al. (2010) Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.

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76.

Gripp KW et. al. (2011) Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

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77.

Hafner C et. al. (2011) HRAS mutation mosaicism causing urothelial cancer and epidermal nevus.

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78.

Groesser L et. al. (2012) Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.

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79.

Lorenz S et. al. (2013) Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.

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80.

Sarin KY et. al. (2013) Activating HRAS mutation in agminated Spitz nevi arising in a nevus spilus.

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81.

Levinsohn JL et. al. (2014) Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi.

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82.

Sarin KY et. al. (2014) Activating HRAS mutation in nevus spilus.

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