Methylation assay
AssigneeAit Austrian Institute of Technology GmbH
InventorsAndreas Weinhausel, Rudolf Pichler, Christa Nohammer
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Abstract
The present invention discloses a method of generating subsets of methylation specific markers from a set, having diagnostic power for various diseases, e.g. cancer of thyroid, breast, colon, or leukemia, in diverse samples; identified subsets of that set, as well as methods for the prognosis and diagnosis of diseases.
Claims5
A method of detecting increased amounts of methyl moieties bound to HIC1, KL, and ESR1 genes in a sample from a patient and treating breast cancer in the patient comprising:
- obtaining a blood, serum, or breast tissue sample comprising DNA from a patient suspected of having or identified as being at risk for breast cancer;
- subjecting the DNA in the sample to bisulfite deamination or methylation-sensitive restriction digestion;
- obtaining a set of nucleic acid primers or hybridization probes specific for HIC1, KL, and ESR1;
- detecting increased numbers of methyl moieties bound to HIC1, KL, and ESR1 genes in the sample in which the DNA has been subjected to bisulfite deamination or methylation-sensitive restriction digestion relative to the amounts of methyl moieties bound to the HIC1, KL, and ESR1 genes in a blood, serum, or breast tissue sample from normal, control human subjects using the set of nucleic acid primers or hybridization probes specific for HIC1, KL, and ESR1, wherein detecting increased numbers of methyl moieties bound to ESR1 comprises detecting increased numbers of methyl moieties bound in a region of ESR1 consisting of SEQ ID NO:1353 and 300 adjacent base pairs and administering a breast cancer therapy to the patient after detecting the increased numbers of methyl moieties bound to the HIC1, KL and ESR1 genes in the sample relative to the samples from normal, control human subjects.
A method of treating breast cancer comprising administering a breast cancer therapy to a human patient for breast cancer after the human patient has been identified as having an increased likelihood of having or developing breast cancer based on an increase in methylation of the ESR1, KL, and HIC1 genes in a blood, serum, or breast tissue sample from the patient as compared to methylation of the ESR1, KL, and HIC1 genes a sample from a normal, control human subject, wherein the methylation status of the ESR1, KL, and HIC1 genes in the sample from the patient and in the sample from the control human subject have been determined using a set of polynucleotides that hybridize specifically to genomic regions associated with HIC1, KL, and ESR1 genes, wherein the genomic regions have been subjected to bisulfite deamination or methylation-sensitive restriction digestion, and wherein the methylation status of the ESR1 gene has been determined by determining the methylation status of a region of the ESR1 gene consisting of SEQ ID NO:1353 and 500 adjacent base pairs.
Dependencies are inferred from the claim text.