[PMID: 29036324] [Nucleic Acids Research]

PancanQTL: systematic identification of cis-eQTLs and trans-eQTLs in 33 cancer types

“Using the genotype and expression data of 9196 tumor samples in 33 cancer types from The Cancer Genome Atlas (TCGA), we identified 5 606 570 eQTL-gene pairs in the cis-eQTL analysis and 231 210 eQTL-gene pairs in the trans-eQTL analysis.” “We developed PancanQTL, a user-friendly database, to store cis-eQTLs, trans-eQTLs, survival-associated eQTLs and GWAS-related eQTLs to enable searching, browsing and downloading.”


Bi-allelic Variants and HRD

[PMID: 29021619] [Nature Communications]

Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes

“over 5% of all cancers harbor bi-allelic pathogenic mutations in HR-related genes” “bi-allelic alterations in HR DNA repair-related genes occur across cancer types, are mutually exclusive, and are associated with genomics features consistent with lack of competent HR DNA repair” mono-allelic alterations are not associated with HDR.