Publications by authors named "Sofia Mastoraki"

Background: Cyclin-dependent kinase 4/6 inhibitors (CDK4/6is) in combination with endocrine therapy are the standard treatment for patients with hormone receptor-positive, HER2-negative metastatic breast cancer (mBC). Despite the efficacy of CDK4/6is, intrinsic resistance occurs in approximately one-third of patients, highlighting the need for reliable predictive biomarkers.

Methods: Single-cell RNA sequencing analyzed metastatic tumors from HR+/HER2- mBC patients pre-CDK4/6i treatment at baseline (BL) and/or at disease progression.

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Article Synopsis
  • Cyclin E, particularly its low-molecular weight isoforms (LMW-E), plays a crucial role in cell cycle regulation and is frequently expressed in triple-negative breast cancer (TNBC), where it correlates with poor patient outcomes.
  • The study reveals that LMW-E enhances the stability and expression of PKMYT1, which inhibits CDK1 and affects mitotic timing, making it a potential therapeutic target for TNBC.
  • The selective inhibitor RP-6306 shows promise in treating LMW-E-expressing tumors by promoting tumor cell death and enhancing immune responses, suggesting that the LMW-E/PKMYT1/CDK1 pathway could be an effective target for therapy in aggressive breast cancers.
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MLL3 histone methyltransferase, encoded by the KMT2C gene, is a tumor suppressor that has an essential role in cell-type-specific gene expression. We evaluated the prognostic significance of KMT2C promoter methylation as a circulating epigenetic biomarker in plasma cell-free DNA (cfDNA) in non-small cell lung cancer (NSCLC). We examined the methylation status of KMT2C promoter using a novel highly specific and sensitive real-time methylation-specific PCR (MSP) assay in (a) operable NSCLC: 48 fresh-frozen NSCLC tissues, their corresponding adjacent non-neoplastic tissues, and 48 matched plasma samples; (b) metastatic NSCLC: 91 plasma samples; and (c) 60 plasma samples from healthy donors (HD).

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Background: Liquid biopsy provides important information for the prognosis and treatment of cancer patients. In this study, we evaluated the effects of preanalytical conditions on gene expression and DNA methylation analyses in liquid biopsies.

Methods: We tested the stability of circulating tumor cell (CTC) messenger RNA by spiking MCF-7 cells in healthy donor peripheral blood (PB) drawn into 6 collection-tube types with various storage conditions.

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