HMSH2 and HMSH6 gene expression profiles in colorectal adenocarcinoma in patients up to 50 years of age

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dc.citation.volume83
dc.contributor.authorGermini, Demetrius
dc.contributor.authorGehrke, Flavia
dc.contributor.authorLira, Daniel
dc.contributor.authorAlves, Beatriz
dc.contributor.authorAzzalis, Ligia [UNIFESP]
dc.contributor.authorPerez, Matheus
dc.contributor.authorFonseca, Fernando [UNIFESP]
dc.contributor.authorWaisberg, Jaques
dc.coverageParis
dc.date.accessioned2020-07-31T12:47:37Z
dc.date.available2020-07-31T12:47:37Z
dc.date.issued2016
dc.description.abstractLynch syndrome, previously called hereditary non-polyposis colorectal cancer (HNPCC), is a major mortality threat. It is an autosomal dominant disease which is caused by a germline mutation in the DNA mismatch repair (MMR), especially in patients aged up to 50 years. Such mutation more frequently occurs in the hMSH2 gene (38-40%) and less frequently in the hMSH6 gene (14-16%). These mutations, when associated with the patient's lifestyle, may reveal a considerable variability in the disease manifestations, such as the degrees of penetrance and clinical aggressiveness. The aim of this study is to analyze the expression of DNA MMR genes, and correlate this expression with the clinical and anatomopathological findings of the neoplasia in patients aged between 39 and 49 years. A total of 45 patients were included: (48.9%) males and (51.1%) females, and they all underwent resection of a colorectal adenocarcinoma. The tissue microarray technique was used to analyze the relative and absolute expression of hMSH2 and hMSH6. Amsterdam II criteria for the diagnosis of HNPCC were obtained from the data provided by medical records and interviews with patients. hMSH2 and hMSH6 was expressed in all patients, which correlated between each other (RHO = 0.669 and p < 0.001) but not to age. There is a positive correlation between the expressions of males (RHO = 0.673 and p = 0.001) and females (RHO = 0.006 and p < 0.001). It is possible to evaluate the expression of MMR genes in embedded anatomopathological samples. Gene expressions correlated between each other and to the sex of the patients, but no difference in relation to age. (C) 2016 Elsevier Masson SAS. All rights reserved.en
dc.description.affiliationState Civil Servant Hosp IAMSPE, Sao Paulo, Brazil
dc.description.affiliationABC Med Sch, Oncol Hematol Discipline, Sao Paulo, Brazil
dc.description.affiliationUniv Paulista, Sao Paulo, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Inst Chem & Pharmaceut Sci, Sao Paulo, Brazil
dc.description.affiliationAv Principe de Gales 821, BR-09060650 Santo Andre, SP, Brazil
dc.description.affiliationAv Ibirapuera,981-2 Andar, BR-04029000 Sao Paulo, SP, Brazil
dc.description.affiliationUnifespInstitute of Chemical and Pharmaceutical Sciences, Universidade Federal de São Paulo (UNIFESP), Diadema, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent602-606
dc.identifierhttp://dx.doi.org/10.1016/j.biopha.2016.07.015
dc.identifier.citationBiomedicine & Pharmacotherapy. Paris, v. 83, p. 602-606, 2016.
dc.identifier.doi10.1016/j.biopha.2016.07.015
dc.identifier.issn0753-3322
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/56949
dc.identifier.wosWOS:000390433400072
dc.language.isoeng
dc.publisherElsevier France-Editions Scientifiques Medicales Elsevier
dc.relation.ispartofBiomedicine & Pharmacotherapy
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectLynch syndromeen
dc.subjectDNA mismatch repairen
dc.subjecthMSH2en
dc.subjecthMSH6: hereditary non-polyposis colorectal canceren
dc.subjectColorectal adenocarcinomaen
dc.titleHMSH2 and HMSH6 gene expression profiles in colorectal adenocarcinoma in patients up to 50 years of ageen
dc.typeinfo:eu-repo/semantics/article
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