Lack of evidence for CDK12 as an ovarian cancer predisposing gene

Fam Cancer. 2020 Jul;19(3):203-209. doi: 10.1007/s10689-020-00169-2.

Abstract

CDK12 variants were investigated as a genetic susceptibility to ovarian cancer in a series of 416 unrelated and consecutive patients with ovarian carcinoma and who carry neither germline BRCA1 nor BRCA2 pathogenic variant. The presence of CDK12 variants was searched in germline DNA by massive parallel sequencing on pooled DNAs. The lack of detection of deleterious variants and the observed proportion of missense variants in the series of ovarian carcinoma patients as compared with all human populations strongly suggests that CDK12 is not an ovarian cancer predisposing gene.

Keywords: CDK12; Cancer susceptibility; NGS; Ovarian carcinoma; Pool sequencing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cyclin-Dependent Kinases / genetics*
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genes, Tumor Suppressor*
  • Genetic Predisposition to Disease*
  • Genetic Profile
  • Genetic Variation*
  • Germ-Line Mutation
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Middle Aged
  • Ovarian Neoplasms / genetics*

Substances

  • CDK12 protein, human
  • Cyclin-Dependent Kinases