A mononucleotide repeat in PRRT2 is an important, frequent target of mismatch repair deficiency in cancer.

ABSTRACT: The DNA mismatch repair (MMR) system corrects DNA replication mismatches thereby contributing to the maintenance of genomic stability. MMR deficiency has been observed in prostate cancer but its impact on the genomic landscape of these tumours is not known. In order to identify MMR associated mutations in prostate cancer we have performed whole genome sequencing of the MMR deficient PC346C prostate cancer cell line. We detected a total of 1196 mutations in PC346C which was 1.5-fold higher compared to a MMR proficient prostate cancer sample (G089). Of all different mutation classes, frameshifts in mononucleotide repeat (MNR) sequences were significantly enriched in the PC346C sample. As a result, a selection of genes with frameshift mutations in MNR was further assessed regarding its mutati

SUBMITTER: Alves IT 

PROVIDER: S-EPMC5351611 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature