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Germline variation of Ribonuclease H2 genes in ovarian cancer patients

Rahel Polaczek1, Peter Schürmann1, Lisa-Marie Speith1

  • 1Department of Gynaecology and Obstetrics, Gynaecology Research Unit (OE 6411), Hannover Medical School, Carl-Neuberg-Str. 1, D-30625, Hannover, Germany.

Journal of Ovarian Research
|December 23, 2020
PubMed

Insights

Germline variants in Ribonuclease H2 genes are uncommon in ovarian cancer. However, low expression of these genes may indicate a better response to platinum therapy.

Area of Science:

  • Genetics
  • Molecular Biology
  • Oncology

Background:

  • Epithelial ovarian carcinoma (EOC) is genetically diverse, with DNA repair defects contributing to its development.
  • Ribonuclease H2 (RH2) enzymes remove ribonucleotides from DNA, influencing DNA repair pathways like mismatch repair (MMR) and homology-directed DNA repair (HDR).
  • The role of germline variants in RH2 genes in ovarian cancer pathogenesis and treatment response remains unclear.

Purpose of the Study:

  • To investigate the role of germline variants in RNASEH2A, RNASEH2B, and RNASEH2C genes in epithelial ovarian carcinoma.
  • To explore the association between RH2 gene variants or expression levels and patient survival, particularly in response to platinum-based chemotherapy.

Main Methods:

  • A case-control study sequencing RNASEH2A, RNASEH2B, and RNASEH2C genes in 602 German EOC patients and 940 healthy controls.
  • Analysis of The Cancer Genome Atlas (TCGA) data to correlate RH2 gene expression levels with progression-free survival in ovarian cancer patients.

Main Results:

  • One EOC patient with high-grade serous carcinoma was found to have a truncating variant (p.C44X) in the RNASEH2B gene.
  • This patient exhibited an 8-year survival following platinum/taxane therapy.
  • Lower expression of RNASEH2B or RNASEH2C genes was significantly associated with longer progression-free survival in TCGA ovarian cancer data.

Conclusions:

  • Loss-of-function variants in RH2 genes are not frequent causes of hereditary ovarian cancer.
  • The findings suggest that RH2 gene function or expression may influence therapeutic response, particularly to platinum agents, warranting further investigation.
Keywords:
Epithelial ovarian carcinomaHomologous recombinationMMR deficiencyPlatinum resistanceRNase H2Ribonucleotide excision repair

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