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Thyroid cancer: the quest for genetic susceptibility involving DNA repair genes

2019-08Journal article Open access
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dc.contributor.authorSantos, Luís S.
dc.contributor.authorGomes, Bruno Costa
dc.contributor.authorBastos, Hélder N.
dc.contributor.authorGil, Octávia M.
dc.contributor.authorAzevedo, Ana Paula
dc.contributor.authorFerreira, Teresa C.
dc.contributor.authorLimbert, Edward
dc.contributor.authorSilva, Susana N.
dc.contributor.authorRueff, José
dc.date.accessioned2021-04-15T10:58:02Z
dc.date.available2021-04-15T10:58:02Z
dc.date.issued2019-08
dc.description.abstractThe incidence of thyroid cancer (TC), particularly well-differentiated forms (DTC), has been rising and remains the highest among endocrine malignancies. Although ionizing radiation (IR) is well established on DTC aetiology, other environmental and genetic factors may also be involved. DNA repair single nucleotide polymorphisms (SNPs) could be among the former, helping in explaining the high incidence. To further clarify the role of DNA repair SNPs in DTC susceptibility, we analyzed 36 SNPs in 27 DNA repair genes in a population of 106 DTCs and corresponding controls with the aim of interpreting joint data from previously studied isolated SNPs in DNA repair genes. Significant associations with DTC susceptibility were observed for XRCC3 rs861539, XPC rs2228001, CCNH rs2230641, MSH6 rs1042821 and ERCC5 rs2227869 and for a haplotype block on chromosome 5q. From 595 SNP-SNP combinations tested and 114 showing relevance, 15 significant SNP combinations (p < 0.01) were detected on paired SNP analysis, most of which involving CCNH rs2230641 and mismatch repair variants. Overall, a gene-dosage effect between the number of risk genotypes and DTC predisposition was observed. In spite of the volume of data presented, new studies are sought to provide an interpretability of the role of SNPs in DNA repair genes and their combinations in DTC susceptibility.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.doi10.3390/genes10080586pt_PT
dc.identifier.eid85071027633
dc.identifier.issn2073-4425
dc.identifier.pmcPMC6722859
dc.identifier.pmid31374908
dc.identifier.urihttp://hdl.handle.net/10400.14/32609
dc.identifier.wos000483744500025
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectDNA repairpt_PT
dc.subjectGenetic markerspt_PT
dc.subjectGenetic susceptibilitypt_PT
dc.subjectSNPspt_PT
dc.subjectThyroid cancerpt_PT
dc.titleThyroid cancer: the quest for genetic susceptibility involving DNA repair genespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue8pt_PT
oaire.citation.titleGenespt_PT
oaire.citation.volume10pt_PT
person.familyNameSantos
person.familyNameNovais Bastos
person.familyNameMonteiro Gil
person.familyNameNunes Silva
person.givenNameLuis
person.givenNameHelder
person.givenNameOctávia
person.givenNameSusana
person.identifier.ciencia-idF11C-1AC5-C419
person.identifier.ciencia-idC51B-F2B8-8248
person.identifier.ciencia-idB61C-8B26-2D4B
person.identifier.ciencia-id8C1F-BB2F-44E3
person.identifier.orcid0000-0001-8906-9976
person.identifier.orcid0000-0002-1412-4202
person.identifier.orcid0000-0002-0366-8124
person.identifier.orcid0000-0002-9122-0732
person.identifier.ridB-5404-2013
person.identifier.ridE-5191-2017
person.identifier.ridK-2518-2013
person.identifier.ridA-9678-2013
person.identifier.scopus-author-id23475245800
person.identifier.scopus-author-id8279091900
person.identifier.scopus-author-id7003782574
person.identifier.scopus-author-id7203043130
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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relation.isAuthorOfPublication00fedb9e-eb6e-4d1e-946a-479215185b89
relation.isAuthorOfPublication4e87378b-aec5-415d-95ea-49198dd13bb7
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