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Germline Mutations as Cancer Drug Targets

Tin-Yun Tang1, Karen Colbert Maresso2, Joanne Ngeow3,4

  • 1Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, Texas.

Cancer Discovery
|November 3, 2025
PubMed

Insights

Universal germline testing for all cancer patients is now feasible due to cost-effectiveness and novel therapies targeting germline mutations. This approach expands access to effective cancer treatments.

Area of Science:

  • Oncology
  • Genetics
  • Pharmacology

Background:

  • Hereditary cancer syndromes are linked to specific pathogenic variants.
  • Germline variants are increasingly recognized as actionable targets across tumor types.
  • Advances in drug development offer new therapeutic strategies.

Purpose of the Study:

  • To review the current landscape of germline mutations as cancer drug targets.
  • To compare available clinical diagnostics for germline testing.
  • To discuss promising antitumor agents and the future of universal germline testing.

Main Methods:

  • Review of current literature on germline mutations, diagnostics, and therapeutics.
  • Analysis of drug development advances in synthetic lethality, immunotherapy, and vaccines.
  • Evaluation of the feasibility and impact of universal germline testing.

Main Results:

  • Therapeutic advances demonstrate the actionability of germline variants.
  • Epidemiologic studies show germline variants across diverse tumor types.
  • Multiple novel agents targeting germline alterations have received regulatory approval.

Conclusions:

  • Universal germline testing is becoming feasible and essential for personalized cancer medicine.
  • Cost-effective high-throughput testing facilitates broader access to targeted therapies.
  • Germline alterations represent a growing portfolio of therapeutically actionable targets.

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