http://rdf.ncbi.nlm.nih.gov/pubchem/patent/ES-2829616-T3
Outgoing Links
Predicate | Object |
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assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_67aa9f927ee002165dc02fdfa78098a1 |
classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-154 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6827 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6806 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-708 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6886 |
classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6886 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-70 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6827 |
filingDate | 2016-07-15-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
grantDate | 2021-06-01-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e270e8e3cd7bbc2328565d563ea64c88 |
publicationDate | 2021-06-01-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber | ES-2829616-T3 |
titleOfInvention | Procedure for the determination of a mutation in genomic DNA, use of the procedure and kit to perform the procedure |
abstract | A method for the diagnosis, prognosis, prediction and / or control of the development of a malignant disease, comprising a determination of at least one mutation in genomic DNA, with the steps of A) converting at least a part of the cytosines contained in the Genomic DNA in uracil or other base with a base-pairing behavior and / or molecular weight that can differ from cytosine, B) perform a mutation analysis with the genomic DNA obtained from step A), to determine the at least one mutation , C) perform a methylation analysis with the genomic DNA obtained from step A), to determine a methylation status of at least one CpG dinucleotide contained in the genomic DNA, D) correlate the presence or absence of the mutation with the CpG dinucleotide methylation status, to determine the diagnosis, prognosis, prediction and / or development of malignant disease, in which the mutation analysis comprises at least a part of the gene BRAF and methylation analysis comprises at least a part of the SHOX2 gene; or in which the mutation analysis comprises at least a part of the FGFR3, TERT, PIK3CA, KRAS, TP53, NRAS and / or HRAS gene and the methylation analysis comprises at least a part of the ONECUT2, OTX1, SHOX2, SEPT9 and / oTWIST1; or in which the mutation analysis comprises at least a part of the TP53 gene and / or a viral DNA insert, in particular at least a part or several parts of the DNA of one or more human papillomavirus (HPV) and the analysis of methylation comprises at least a part of the SEPT9 gene; or wherein the mutation analysis comprises at least a part of the BRCA1, BRCA2 and / or PALB2 gene and the methylation analysis comprises at least a part of the BRCA1 gene; or wherein the mutation analysis comprises at least a part of the IDH1, IDH2 and / or EGFR gene and the methylation analysis comprises at least a part of the MGMT gene; or wherein the mutation analysis comprises at least a part of the TP53 gene and the methylation analysis comprises at least a part of the PITX2 gene; or wherein the mutation analysis comprises at least a part of the AR, ESR1, BRCA1, BRCA2, PALB2 and / or ERBB2 gene and the methylation analysis comprises at least a part of the PITX2 gene. |
priorityDate | 2015-07-16-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 1136.