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Updated: Jan 21, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

25.0K

CDK12 inactivation across solid tumors: an actionable genetic subtype

Catherine H Marshall1, Eddie L Imada2, Zhuojun Tang3

  • 1Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Oncoscience
|July 31, 2019
PubMed

Insights

The study found that inactivating CDK12 mutations are most common in bladder, prostate, and uterine cancers. These findings are crucial for understanding potential therapeutic strategies across various cancer types.

Area of Science:

  • Oncology
  • Genetics
  • Genomic Medicine

Background:

  • Inactivating alterations in Cyclin-Dependent Kinase 12 (CDK12) have been identified in ovarian and prostate cancers.
  • These mutations suggest potential therapeutic implications, but their prevalence across diverse cancer types remains largely unknown.

Purpose of the Study:

  • To determine the prevalence of monoallelic and biallelic CDK12 mutations across a wide range of cancer types.
  • To identify specific cancer types with a higher incidence of CDK12 alterations for further investigation.

Main Methods:

  • Utilized the cBioPortal and GENIE Project databases for comprehensive genomic data analysis.
  • Focused on cancer types with over 200 sequenced cases, including metastatic disease cohorts.
  • Applied a threshold of >1% occurrence for at least monoallelic CDK12 alterations to identify relevant cohorts.

Main Results:

  • The highest prevalence of monoallelic CDK12 mutations was observed in bladder cancer (3.7%), followed by prostate (3.4%), esophago-gastric (2.1%), and uterine cancers (2.1%).
  • Biallelic CDK12 inactivation was most frequent in prostate cancer (1.8%), followed by ovarian (1.0%) and bladder cancers (0.5%).
  • Analysis encompassed over 15,000 cases, providing a broad overview of CDK12 mutation frequencies.

Conclusions:

  • This study provides the first comprehensive estimation of CDK12 mutation prevalence across multiple cancer types.
  • The findings highlight bladder, prostate, and uterine cancers as key areas for further research into CDK12's role and therapeutic targeting.
  • Understanding CDK12 mutation prevalence is essential for developing targeted therapies and improving patient outcomes.
Keywords:
CDK12biomarkersgeneticsimmunotherapyprostate cancer

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