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Genetic And Environmental Associations Of Nonspecific Chromosomal Aberrations

dc.contributor.authorHemminki, Kari Jussi
dc.contributor.authorNiazi, Yasmeen
dc.contributor.authorVodičková, Ludmila
dc.contributor.authorVodička, Pavel
dc.contributor.authorFörsti, Asta
dc.date.accessioned2024-11-05T07:41:14Z
dc.date.available2024-11-05T07:41:14Z
dc.date.issued2024
dc.identifier.urihttps://hdl.handle.net/20.500.14178/2676
dc.description.abstractNonspecific structural chromosomal aberrations (CAs) are found in around 1% of circulating lymphocytes from healthy individuals but the frequency may be higher after exposure to carcinogenic chemicals or radiation. CAs have been used in the monitoring of persons exposed to genotoxic agents and radiation. Previous studies on occupationally exposed individuals have shown associations between the frequency of CAs in peripheral blood lymphocytes and subsequent cancer risk. The cause for CA formation are believed to be unrepaired or insufficiently repaired DNA double-strand breaks or other DNA damage, and additionally telomere shortening. CAs include chromosome (CSAs) and chromatid type aberrations (CTAs). In the present review, we first describe the types of CAs, the conventional techniques used for their detection and some aspects of interpreting the results. We then focus on germline genetic variation in the frequency and type of CAs measured in a genome-wide association study (GWAS) in healthy individuals in relation to occupational and smoking-related exposure compared to non-exposed referents. The associations (at p<10-5) on 1473 healthy individuals were broadly classified in candidate genes from functional pathways related to DNA damage response/repair, including PSMA1, UBR5, RRM2B, PMS2P4, STAG3L4, BOD1, COPRS and FTO; another group included genes related to apoptosis, cell proliferation, angiogenesis and tumorigenesis, COPB1, NR2C1, COPRS, RHOT1, ITGB3, SYK, and SEMA6A; a third small group mapped to genes KLF7, SEMA5A and ITGB3 which were related to autistic traits, known to manifest frequent CAs. Dedicated studies on 153 DNA repair genes showed associations for some 30 genes, expression of which could be modified by the implicated variants. We finally point out that monitoring of CAs is so far the only method of assessing cancer risk in healthy human populations, and the use of the technology should be made more attractive by developing automated performance steps and incorporating artificial intelligence methods into the scoring.en
dc.language.isoen
dc.relation.urlhttps://doi.org/10.1093/mutage/geae006
dc.rightsCreative Commons Uveďte původ-Neužívejte dílo komerčně 4.0 Internationalcs
dc.rightsCreative Commons Attribution-NonCommercial 4.0 Internationalen
dc.titleGenetic And Environmental Associations Of Nonspecific Chromosomal Aberrationsen
dcterms.accessRightsrestrictedAccess
dcterms.licensehttps://creativecommons.org/licenses/by-nc/4.0/legalcode
dc.date.updated2024-11-05T07:41:13Z
dc.subject.keywordChromosomal damageen
dc.subject.keywordDNA repairen
dc.subject.keywordcanceren
dc.subject.keyworddouble-strand breaken
dc.subject.keywordgeneticsen
dc.identifier.eissn1464-3804
dc.relation.fundingReferenceinfo:eu-repo/grantAgreement/MSM//LX22NPO5102
dc.relation.fundingReferenceinfo:eu-repo/grantAgreement/EU/FP8/856620
dc.relation.fundingReferenceinfo:eu-repo/grantAgreement/MZ0/NU/NU21-03-00506
dc.relation.fundingReferenceinfo:eu-repo/grantAgreement/GA0/GA/GA21-27902S
dc.relation.fundingReferenceinfo:eu-repo/grantAgreement/GA0/GA/GA23-05609S
dc.relation.fundingReferenceinfo:eu-repo/grantAgreement/UK/UNCE/MED/UNCE/MED/006
dc.relation.fundingReferenceinfo:eu-repo/grantAgreement/UK/COOP/COOP
dc.date.embargoStartDate2024-11-05
dc.type.obd73
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.identifier.doi10.1093/mutage/geae006
dc.identifier.utWos001184408500001
dc.identifier.obd646250
dc.identifier.pubmed38422374
dc.subject.rivPrimary30000::30200::30204
dcterms.isPartOf.nameMutagenesis
dcterms.isPartOf.issn0267-8357
dcterms.isPartOf.journalYear2024
uk.faculty.primaryId111
uk.faculty.primaryNameLékařská fakulta v Plznics
uk.faculty.primaryNameFaculty of Medicine in Pilsenen
uk.faculty.secondaryId108
uk.faculty.secondaryName1. lékařská fakultacs
uk.faculty.secondaryNameFirst Faculty of Medicineen
uk.department.primaryId100012968318
uk.department.primaryNameBiomedicínské centrumcs
uk.department.primaryNameBiomedical Centeren
uk.department.secondaryId1535
uk.department.secondaryNameÚstav biologie a lékařské genetiky 1. LF UK a VFNcs
uk.department.secondaryNameInstitute of Biology and Medical Geneticsen
dc.type.obdHierarchyCsČLÁNEK V ČASOPISU::článek v časopisu::přehledový článekcs
dc.type.obdHierarchyEnJOURNAL ARTICLE::journal article::summarizing articleen
dc.type.obdHierarchyCode73::152::205en
uk.displayTitleGenetic And Environmental Associations Of Nonspecific Chromosomal Aberrationsen


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