Our pre-print on analysis of allele-specific chromatin activity across a diverse set of epigenomic features in prostate tumors is now online, lead by talented undergraduate rotation student Anamay Shetty:

Allele-specific epigenetic activity in prostate cancer and normal prostate tissue implicates prostate cancer risk mechanisms. Shetty A, Seo JH, Bell CA, O’Connor EP, Pomerantz M, Freedman ML, Gusev A. 2021

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.