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Mismatch repair single nucleotide polymorphisms and thyroid cancer susceptibility

2018-05Journal article Open access
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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.date.accessioned2021-05-13T14:28:41Z
dc.date.available2021-05-13T14:28:41Z
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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.doi10.3892/ol.2018.8103pt_PT
dc.identifier.eid85044627493
dc.identifier.issn1792-1074
dc.identifier.pmid29616133
dc.identifier.urihttp://hdl.handle.net/10400.14/33095
dc.identifier.wos000431825900084
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectDNA repairpt_PT
dc.subjectGenetic susceptibilitypt_PT
dc.subjectMismatch repairpt_PT
dc.subjectMSH6pt_PT
dc.subjectSingle nucleotide polymorphismpt_PT
dc.subjectThyroid cancerpt_PT
dc.titleMismatch repair single nucleotide polymorphisms and thyroid cancer susceptibilitypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage6726pt_PT
oaire.citation.issue5pt_PT
oaire.citation.startPage6715pt_PT
oaire.citation.titleOncology Letterspt_PT
oaire.citation.volume15pt_PT
person.familyNameSantos
person.familyNameNunes Silva
person.familyNameMonteiro Gil
person.familyNameRueff
person.givenNameLuis
person.givenNameSusana
person.givenNameOctávia
person.givenNameJose
person.identifier793666
person.identifier.ciencia-idF11C-1AC5-C419
person.identifier.ciencia-id8C1F-BB2F-44E3
person.identifier.ciencia-idB61C-8B26-2D4B
person.identifier.ciencia-id0E15-908D-EA21
person.identifier.orcid0000-0001-8906-9976
person.identifier.orcid0000-0002-9122-0732
person.identifier.orcid0000-0002-0366-8124
person.identifier.orcid0000-0002-8456-7295
person.identifier.ridB-5404-2013
person.identifier.ridA-9678-2013
person.identifier.ridK-2518-2013
person.identifier.ridE-6426-2013
person.identifier.scopus-author-id23475245800
person.identifier.scopus-author-id7203043130
person.identifier.scopus-author-id7003782574
person.identifier.scopus-author-id7006536439
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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relation.isAuthorOfPublication.latestForDiscovery5ecf6af2-3aad-434e-8993-950b0ee8cc6d

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