This study identified >7,000 active epigenetic features in tumors that harbored germline variants with allele-specific activity, indicative of a germline-somatic interaction influencing chromatin activity in the tumor. These regulated features were shown to be enriched for cancer risk heritability, prostate and prostate tumor specific eQTLs, as well as binding of a large number of cancer-related transcription factors. This work continues to adds to the growing list of studies showing germline effects in the tumor can potentially help us understand the mechanisms of cancer.
Figure: Schematic of possible allele-specific features identified in the study.