Concordance of DNA repair gene mutations in paired primary prostate cancer samples and metastatic tissue or cell-free DNA
JAMA Sep 22, 2021
Schweizer MT, Sivakumar S, Tukachinsky H, et al. - Concordance in DNA damage repair (DDR) gene alterations between primary prostate cancer and metastases or circulating tumor DNA (ctDNA) specimens, was determined.
Included were patients with detected DDR pathway mutation in metastatic tissue or ctDNA and with available primary tissue sequencing.
Analysis was performed on sequencing data from 51 men from 3 cohorts: (1) FoundationOne, (2) University of Washington clinical cases (University of Washington–OncoPlex or Stand Up to Cancer–Prostate Cancer Foundation International Dream Team sequencing pipelines), and (3) University of Washington rapid autopsy series.
On excluding clonal hematopoiesis, gene alterations in DNA repair genes identified in cell-free circulating tumor DNA or metastatic tissue were concordant with primary prostate cancer.
In men with metastatic disease, primary prostate cancer tissue may aid in accurate assessment of the status of actionable DNA repair gene alterations.
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