Optimized Marker System for Early Diagnosis of Breast Cancer

Burdennyy, A. M.; Филиппова, Е. А.; Ходырев, Д. С.; Пронина, И. В.; Лукина, С. С.; Ivanova, N A; Kazubskaya, T. P.; Логинов, В. И.; Брага, Э. А.

doi:10.1007/s10517-021-05331-z

Cited by 2 publications

(1 citation statement)

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“…There is limited information about the significance of DNA hypermethylation of the remaining biomarkers. Recent studies showed that the differential expression and DNA methylation pattern of these genes may be used as diagnostic and prognostic biomarkers for different types of cancer, e.g., breast cancer (NRIP3 [44], MIR129-2 [45,46]), hepatocellular carcinoma (SOX8 [47]), oesophageal cancer (MIR129-2 [48]), lung cancer (MIR129-2 [49]), and colorectal cancer (MIR129-2 [50,51]). Interestingly, the SOX gene family is generally discussed as having oncogenic properties and SOX overexpression can be associated with poor prognosis [52].…”

Section: Discussionmentioning

confidence: 99%

Blood-Based DNA Methylation Analysis by Multiplexed OBBPA-ddPCR to Verify Indications for Prostate Biopsies in Suspected Prostate Cancer Patients

Friedemann,

Jandeck,

Tautz

et al. 2024

Cancers

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Current prostate carcinoma (PCa) biomarkers, including total prostate-specific antigen (tPSA), have unsatisfactory diagnostic sensitivity and specificity resulting in overdiagnosis and overtreatment. Previously, we described an optimised bias-based preamplification–digital droplet PCR (OBBPA-ddPCR) technique, which detects tumour DNA in blood-derived cell-free DNA (cfDNA) of cancer patients. The current study investigated the performance of newly developed OBBPA-ddPCR-based biomarkers. Blood plasma samples from healthy individuals (n = 90, controls) and PCa (n = 39) and benign prostatic hyperplasia patients (BPH, n = 40) were analysed. PCa and BPH patients had tPSA values within a diagnostic grey area of 2–15 ng/mL, for whom further diagnostic validation is most crucial. Methylation levels of biomarkers RASSF1A, MIR129-2, NRIP3, and SOX8 were found significantly increased in PCa patients compared to controls. By combining classical PCa risk factors (percentage of free PSA compared to tPSA (QfPSA) and patient’s age) with cfDNA-based biomarkers, we developed PCa risk scores with improved sensitivity and specificity compared to established tPSA and QfPSA single-marker analyses. The diagnostic specificity was increased to 70% with 100% sensitivity for clinically significant PCa patients. Thus, prostate biopsies could be avoided for 28 out of 40 BPH patients. In conclusion, the newly developed risk scores may help to confirm the clinical decision and prevent unnecessary prostate biopsy.

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