TUMOR FUNCTIONAL MUTATION AND EPITOPE LOADS AS IMPROVED PREDICTIVE BIOMARKERS FOR IMMUNOTHERAPY RESPONSE

摘要

A method (100, 200, 400) for predicting a response of a tumor to immunotherapy, comprising: analyzing (120) a tumor sample; analyzing (130) a non-tumor sample obtained from the patient; identifying (140) one or more tumor-specific mutations; analyzing (150) the genetic information from the tumor sample to determine a variant allele frequency for the identified tumor- specific mutations; analyzing (160) genetic information to determine a tumor purity of the patient's tumor; determining (210) a pathogenicity for the identified tumor-specific mutations; calculating (220), from: (i) the determined variant allele frequency and/or a determined allele-specific expression, exon expression, or gene expression of the one or more tumor-specific mutations; (ii) the determined tumor purity; and (iii) the determined pathogenicity, a tumor functional mutation load score; predicting (410), based on the score, a response of the patient's tumor to an immunotherapy treatment; and determining (420), based on said prediction, a treatment for the patient.