ArticleCell biology international2022
Detection of disease-causing mutations in prostate cancer by NGS sequencing.
Article in Cell biology international, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- Article
- NGS-Based Genomic Profiling Identifies Independent Predictors of Time to Castration Resistance in Hormone-Sensitive Prostate Cancer: A Retrospective Real-World Study.Current oncology (Toronto, Ont.) · 2026Article
- Prostate cancer biomarkers: from early diagnosis to precision treatment.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2024Review
- Different Prostatic Tissue Microbiomes between High- and Low-Grade Prostate Cancer Pathogenesis.International journal of molecular sciences · 2024Article
- ATM inhibition enhance immunotherapy by activating STING signaling and augmenting MHC Class I.Cell death & disease · 2024Article
- Evolutionary signatures of human cancers revealed via genomic analysis of over 35,000 patients.Nature communications · 2023Article
- Small Molecule Inhibitors as Therapeutic Agents Targeting Oncogenic Fusion Proteins: Current Status and Clinical.Molecules (Basel, Switzerland) · 2023Review
- GermlineEuropean urology open science · 2023Article
- Integrated analysis of single-cell and bulk RNA sequencing identifies a signature based on macrophage marker genes involved in prostate cancer prognosis and treatment responsiveness.Functional & integrative genomics · 2023Article
- Unlocking the role of non-coding RNAs in prostate cancer progression: exploring the interplay with the Wnt signaling pathway.Frontiers in pharmacology · 2023Review
- Review
- Detection of disease-causing mutations in prostate cancer by NGS sequencing.Cell biology international · 2022Article
- Beyond the Usual Suspects: When the Skin Tells a Different Story: Cutaneous Metastasis in Prostate Carcinoma.Indian journal of dermatologyArticle
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
Gene mutations may affect the fate of many tumors including prostate cancer (PCa); therefore, the research of specific mutations associated with tumor outcomes might help the urologist to identify the best therapy for PCa patients such as surgical resection, adjuvant therapy or active surveillance. Genomic DNA (gDNA) was extracted from 48 paraffin-embedded PCa samples and normal paired tissues. Next, gDNA was amplified and analyzed by next-generation sequencing (NGS) using a specific gene panel for PCa. Raw data were refined to exclude false-positive mutations; thus, variants with coverage and frequency lower than 100× and 5%, respectively were removed. Mutation significance was processed by Genomic Evolutionary Rate Profiling, ClinVar, and Varsome tools. Most of 3000 mutations (80%) were single nucleotide variants and the remaining 20% indels. After raw data elaboration, 312 variants were selected. Most mutated genes were KMT2D (26.45%), FOXA1 (16.13%), ATM (15.81%), ZFHX3 (9.35%), TP53 (8.06%), and APC (5.48%). Hot spot mutations in FOXA1, ATM, ZFHX3, SPOP, and MED12 were also found. Truncating mutations of ATM, lesions lying in hot spot regions of SPOP and FOXA1 as well as mutations of TP53 correlated with poor prognosis. Importantly, we have also found some germline mutations associated with hereditary cancer-predisposing syndrome. gDNA sequencing of 48 cancer tissues by NGS allowed to detect new tumor variants as well as confirmed lesions in genes linked to prostate cancer. Overall, somatic and germline mutations linked to good/poor prognosis could represent new prognostic tools to improve the management of PCa patients.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.