Tumor mutation burden
AssigneeGenetics Research, LLC
InventorsAnthony P. Shuber, William Glover
Life of this patent
Estimating the term…
Abstract
The invention provides methods for determining the mutation burden of a tumor by assaying tumor DNA that is representative of genetic loci that are themselves representative of genetics of the tumor. The assayed tumor DNA may be itself agnostic as to loci, so long as it is representative of loci that are representative of tumor mutation burden. The invention provides for assays in which the tumor DNA being sequenced or tested can be something other than, and possibly less than, a full panel of oncogenes that is expected to stand for a tumor's mutational load.
Claims13
A method of analyzing a tumor, the method comprising:
- obtaining a representative sample of a tumor, the sample comprising tumor DNA;
- performing an enrichment of a target nucleic acid in the representative sample by introducing a Cas endonuclease and associated guide RNA to bind and protect the target nucleic acid in the tumor DNA that is representative of mutations in the tumor in a sequence-specific manner, and degrading unprotected nucleic acids with an exonuclease;
- sequencing the target nucleic acid to identify mutations;
- associating the identified mutations with a tumor mutation burden (TMB) of the tumor;
- and
- reporting the TMB based on the identified mutations.
Dependencies are inferred from the claim text.