CNV Hotspots in Testicular Seminoma Tissue and Seminal Plasma

Seminoma (SE) is the most frequent type of testicular tumour, affecting predominantly young men. Early detection and diagnosis of SE could significantly improve life quality and reproductive health after diagnosis and treatment. Copy number variation (CNV) has already been associated with various ca...

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Veröffentlicht in:Cancers 2021-12, Vol.14 (1), p.189
Hauptverfasser: Raos, Dora, Abramović, Irena, Tomić, Miroslav, Vrtarić, Alen, Kuliš, Tomislav, Ćorić, Marijana, Ulamec, Monika, Katušić Bojanac, Ana, Ježek, Davor, Sinčić, Nino
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container_issue 1
container_start_page 189
container_title Cancers
container_volume 14
creator Raos, Dora
Abramović, Irena
Tomić, Miroslav
Vrtarić, Alen
Kuliš, Tomislav
Ćorić, Marijana
Ulamec, Monika
Katušić Bojanac, Ana
Ježek, Davor
Sinčić, Nino
description Seminoma (SE) is the most frequent type of testicular tumour, affecting predominantly young men. Early detection and diagnosis of SE could significantly improve life quality and reproductive health after diagnosis and treatment. Copy number variation (CNV) has already been associated with various cancers as well as SE. In this study, we selected four genes ( , , , and ) for CNV analysis in genomic DNA (gDNA), which are located on chromosomes susceptible to gains, and whose aberrant expression was already detected in SE. Furthermore, CNV was analysed in cell-free DNA (cfDNA) from seminal plasma. Analysis was performed by droplet digital polymerase chain reaction (ddPCR) on gDNA from SE and nonmalignant testicular tissue. Seminal plasma cfDNA from SE patients before and after surgery was analysed, as well as from healthy volunteers. The CNV hotspot in gDNA from SE tissue was detected for the first time in all analysed genes, and for two genes, and it was reflected in cfDNA from seminal plasma. Although clinical value is yet to be determined, presented data emphasize a potential use of CNV as a potential SE biomarker from a liquid biopsy.
doi_str_mv 10.3390/cancers14010189
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Early detection and diagnosis of SE could significantly improve life quality and reproductive health after diagnosis and treatment. Copy number variation (CNV) has already been associated with various cancers as well as SE. In this study, we selected four genes ( , , , and ) for CNV analysis in genomic DNA (gDNA), which are located on chromosomes susceptible to gains, and whose aberrant expression was already detected in SE. Furthermore, CNV was analysed in cell-free DNA (cfDNA) from seminal plasma. Analysis was performed by droplet digital polymerase chain reaction (ddPCR) on gDNA from SE and nonmalignant testicular tissue. Seminal plasma cfDNA from SE patients before and after surgery was analysed, as well as from healthy volunteers. The CNV hotspot in gDNA from SE tissue was detected for the first time in all analysed genes, and for two genes, and it was reflected in cfDNA from seminal plasma. Although clinical value is yet to be determined, presented data emphasize a potential use of CNV as a potential SE biomarker from a liquid biopsy.</description><identifier>ISSN: 2072-6694</identifier><identifier>EISSN: 2072-6694</identifier><identifier>DOI: 10.3390/cancers14010189</identifier><identifier>PMID: 35008352</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Archives &amp; records ; Biomarkers ; Biopsy ; Cancer ; Chromosomes ; Copy number ; Deoxyribonucleic acid ; Diagnosis ; DNA ; DNA methylation ; Genes ; Genetic engineering ; Genomes ; Genomic analysis ; Patients ; Plasma ; Polymerase chain reaction ; Quality of life ; Reproductive health ; Semen ; Seminoma ; Surgery ; Testes ; Tumors</subject><ispartof>Cancers, 2021-12, Vol.14 (1), p.189</ispartof><rights>2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). 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source PubMed Central Open Access; MDPI - Multidisciplinary Digital Publishing Institute; EZB-FREE-00999 freely available EZB journals; PubMed Central
subjects Archives & records
Biomarkers
Biopsy
Cancer
Chromosomes
Copy number
Deoxyribonucleic acid
Diagnosis
DNA
DNA methylation
Genes
Genetic engineering
Genomes
Genomic analysis
Patients
Plasma
Polymerase chain reaction
Quality of life
Reproductive health
Semen
Seminoma
Surgery
Testes
Tumors
title CNV Hotspots in Testicular Seminoma Tissue and Seminal Plasma
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