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Identifying Rare Germline Variants Associated with Metastatic Prostate Cancer Through an Extreme Phenotype Study.

Yen-Yi Lin1,2, Hamideh Sharifi Noghabi1,2, Stanislav Volik1

  • 1Vancouver Prostate Centre, Vancouver, British Columbia, Canada.

Medrxiv : the Preprint Server for Health Sciences
|May 9, 2025
PubMed
Summary

Rare germline variants in DNA Damage Repair genes are linked to metastatic prostate cancer (mPCa) risk. Identifying these variants may help stratify patients for aggressive treatment.

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Area of Science:

  • Genetics and Genomics
  • Cancer Biology
  • Molecular Oncology

Background:

  • Prostate cancer (PCa) research has focused on germline variants and predisposition.
  • Limited understanding exists on how heritable factors influence PCa progression and metastasis.

Purpose of the Study:

  • Identify rare germline variants associated with metastatic PCa (mPCa) risk.
  • Provide functional validation for identified variants.

Main Methods:

  • Exome sequencing of extreme phenotype cohort (EPC) patients with high-grade PCa.
  • Analysis of germline variants with minor allelic frequencies ≤ 2%.
  • Validation in independent PCa cohorts and functional engineering of candidate variants.

Main Results:

  • Germline nonsynonymous rare variants (gnsRVs) in DNA Damage Repair (DDR) genes were enriched in mPCa patients (p=4.57e-06).
  • KDM6B K973Q and BRCA2 I1962T variants showed functional significance and therapeutic implications.
  • Six EPC variants related to DNA repair or epigenetics altered enzymatic activity.

Conclusions:

  • Extreme phenotype cohorts and rare variant analysis advance understanding of germline-tumor interactions in PCa.
  • Identified germline variants enriched in mPCa patients, with one conferring a metastatic phenotype.
  • Germline testing at diagnosis may improve PCa treatment stratification.