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Updated: Dec 16, 2025

A Bioluminescent and Fluorescent Orthotopic Syngeneic Murine Model of Androgen-dependent and Castration-resistant Prostate Cancer
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Published on: March 6, 2018

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Germline Mutations in DNA Repair Genes in Patients With Metastatic Castration-resistant Prostate Cancer

Klaudia Holeckova1,2, Katarina Baluchova3, Mark Hives4

  • 1Department of Urology, Jessenius Faculty of Medicine in Martin and University Hospital Martin, Comenius University in Bratislava, Martin, Slovak Republic.

In Vivo (Athens, Greece)
|July 2, 2020
PubMed
Abstract

Insights

This study identified three pathogenic variants in DNA repair genes BRCA2, RAD50, and ATM in patients with metastatic castration-resistant prostate cancer (mCRPC). These genetic alterations may impact DNA repair efficiency in mCRPC.

Area of Science:

  • Genomics
  • Oncology
  • Molecular Biology

Background:

  • Metastatic castration-resistant prostate cancer (mCRPC) is an advanced stage of prostate cancer.
  • Understanding the genetic landscape of mCRPC is crucial for targeted therapies.
  • DNA repair gene alterations are implicated in cancer development and progression.

Purpose of the Study:

  • To analyze the genetic profiles of mCRPC patients using next-generation sequencing.
  • To identify variants with pathogenic potential in key DNA repair genes.
  • To investigate the role of DNA repair gene mutations in mCRPC.

Main Methods:

  • Genomic DNA was isolated from peripheral blood of 50 mCRPC patients.
  • Next-generation sequencing was performed on an Illumina platform targeting 111 cancer-associated genes.
  • Identified variants were analyzed for clinical significance and predicted impact on protein function.

Main Results:

  • Fourteen relevant variants were identified within nine analyzed DNA repair genes.
  • Three pathogenic variants were found in BRCA2, RAD50, and ATM.
  • Eleven additional variants with potential pathogenic impact were detected.

Conclusions:

  • The identified pathogenic variants are located in conserved protein regions.
  • These variants are likely to impair DNA repair efficiency in mCRPC.
  • Genetic profiling of DNA repair genes can inform treatment strategies for mCRPC.
Keywords:
DNA repair genesProstate cancergermline mutationsnext generation sequencing

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