Mutation frequency of homologous recombination repair genes in prostate adenocarcinomas

The best predictive marker for the expected efficacy of PARP inhibitor therapy is mutations in BRCA1/2 or other homologous recombination repair genes. These tests are part of routine molecular pathology diagnostics. Among 281 patients with prostate adenocarcinoma, somatic pathogenic mutations in one...

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Bibliographic Details
Published inMagyar onkologia Vol. 68; no. 2; p. 137
Main Authors Melegh, Zsombor, Csernák, Erzsébet, Kohánka, Andrea, Rubovszkyné Gallai, Mónika, Bencze, Eszter, Szőke, Melinda, Pap, Luca, Simon, Andrea, Küronya, Zsófia, Biró, Krisztina, Géczi, Lajos, Tóth, Erika
Format Journal Article
LanguageHungarian
Published Hungary 16.07.2024
Subjects
Adenocarcinoma - drug therapy
Adenocarcinoma - genetics
Adenocarcinoma - pathology
Aged
Biomarkers, Tumor - genetics
BRCA1 Protein - genetics
BRCA2 Protein - genetics
Humans
Male
Middle Aged
Mutation
Mutation Rate
Poly(ADP-ribose) Polymerase Inhibitors - therapeutic use
Prostatic Neoplasms - genetics
Prostatic Neoplasms - pathology
Recombinational DNA Repair - genetics
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Summary:The best predictive marker for the expected efficacy of PARP inhibitor therapy is mutations in BRCA1/2 or other homologous recombination repair genes. These tests are part of routine molecular pathology diagnostics. Among 281 patients with prostate adenocarcinoma, somatic pathogenic mutations in one of these genes were identified in 21.4% of patients. In 28.5% of the patients, the test was unsuccessful; the main limitation of successful testing was the age of the paraffin blocks and low DNA concentration. In the case of BRCA1/2 testing, the success rate was significantly reduced for samples older than 5 years, while in tests involving a broader set of homologous recombination repair genes, the success rate was significantly reduced for samples older than 2 years. Therefore, it is very important to test high-risk prostate cancers at the time of primary diagnosis, and probably also liquid biopsy testing of circulating tumor DNA will play an important role in safe diagnosis in the near future.
ISSN:2060-0399