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Mismatch repair single nucleotide polymorphisms and thyroid cancer susceptibility

2018-05Artigo científico Acesso aberto
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dc.contributor.authorSantos, Luís S.
dc.contributor.authorSilva, Susana N.
dc.contributor.authorGil, Octávia M.
dc.contributor.authorFerreira, Teresa C.
dc.contributor.authorLimbert, Edward
dc.contributor.authorRueff, José
dc.contributor.authorRueff, Jose
dc.contributor.institutionCentre for Toxicogenomics and Human Health (ToxOmics)
dc.contributor.institutionNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
dc.contributor.pblSpandidos Publications
dc.date.accessioned2018-04-10T22:18:34Z
dc.date.available2023-05-27T00:31:41Z
dc.date.embargoedUntil2018-11-01
dc.date.issued2018-05
dc.description.abstractThyroid cancer (TC) is the most common endocrine malignancy and its incidence continues to rise worldwide. Ionizing radiation exposure is the best established etiological factor. Heritability is high; however, despite valuable contribution from recent genome-wide association studies, the current understanding of genetic susceptibility to TC remains limited. Several studies suggest that altered function or expression of the DNA mismatch repair (MMR) system may contribute to TC pathogenesis. Therefore, the present study aimed to evaluate the potential role of a panel of MMR single nucleotide polymorphisms (SNPs) on the individual susceptibility to well-differentiated TC (DTC). A case-control study was performed involving 106 DTC patients and 212 age- and gender-matched controls, who were all Caucasian Portuguese. Six SNPs present in distinct MMR genes (MLH1 rs1799977, MSH3 rs26279, MSH4 rs5745325, PMS1 rs5742933, MLH3 rs175080 and MSH6 rs1042821) were genotyped through TaqMan® assays and genotype-associated risk estimates were calculated. An increased risk was observed in MSH6 rs1042821 variant homozygotes [adjusted odds ratio (OR)=3.42, 95% CI: 1.04-11.24, P=0.04, under the co-dominant model; adjusted OR=3.84, 95% CI: 1.18-12.44, P=0.03, under the recessive model]. The association was especially evident for the follicular histotype and female sex. The association was also apparent when MSH6 was analysed in combination with other MMR SNPs such as MSH3 rs26279. Interestingly, two other SNP combinations, both containing the MSH6 heterozygous genotype, were associated with a risk reduction, suggesting a protective effect for these genotype combinations. These data support the idea that MMR SNPs such as MSH6 rs1042821, alone or in combination, may contribute to DTC susceptibility. This is coherent with the limited evidence available. Nevertheless, further studies are needed to validate these findings and to establish the usefulness of these SNPs as genetic susceptibility biomarkers for DTC so that, in the near future, cancer prevention policies may be optimized under a personalized medicine perspective.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent12
dc.format.extent804986
dc.identifier.doi10.3892/ol.2018.8103
dc.identifier.issn1792-1074
dc.identifier.otherPURE: 3878900
dc.identifier.otherPURE UUID: 1083ea19-a737-456c-b808-0caaa9802e11
dc.identifier.otherScopus: 85044627493
dc.identifier.otherPubMed: 29616133
dc.identifier.otherWOS: 000431825900084
dc.identifier.otherORCID: /0000-0002-9122-0732/work/91554839
dc.identifier.urihttp://www.scopus.com/inward/record.url?scp=85044627493&partnerID=8YFLogxK
dc.identifier.urlhttps://www.scopus.com/pages/publications/85044627493
dc.language.isoeng
dc.peerreviewedyes
dc.subjectDNA repair
dc.subjectGenetic susceptibility
dc.subjectMismatch repair
dc.subjectMSH6
dc.subjectSingle nucleotide polymorphism
dc.subjectThyroid cancer
dc.subjectOncology
dc.subjectCancer Research
dc.subjectSDG 3 - Good Health and Well-being
dc.titleMismatch repair single nucleotide polymorphisms and thyroid cancer susceptibilityen
dc.typejournal article
degois.publication.firstPage6715
degois.publication.issue5
degois.publication.lastPage6726
degois.publication.titleOncology Letters
degois.publication.volume15
dspace.entity.typePublication
person.familyNameRueff
person.givenNameJose
person.identifier793666
person.identifier.ciencia-id0E15-908D-EA21
person.identifier.orcid0000-0002-8456-7295
person.identifier.ridE-6426-2013
person.identifier.scopus-author-id7006536439
rcaap.rightsopenAccess
relation.isAuthorOfPublication91a3b5ac-0328-498d-8cb8-08555b202306
relation.isAuthorOfPublication.latestForDiscovery91a3b5ac-0328-498d-8cb8-08555b202306

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