Genes Of Detoxification Are Important Modulators Of Hereditary Medullary Thyroid Carcinoma Risk.

dc.creatorBarbieri, R B
dc.creatorBufalo, N E
dc.creatorCunha, L L
dc.creatorAssumpção, L V M
dc.creatorMaciel, R M B
dc.creatorCerutti, J M
dc.creatorWard, L S
dc.date2013-Aug
dc.date2015-11-27T13:31:11Z
dc.date2015-11-27T13:31:11Z
dc.date.accessioned2018-03-29T01:16:59Z
dc.date.available2018-03-29T01:16:59Z
dc.identifierClinical Endocrinology. v. 79, n. 2, p. 288-93, 2013-Aug.
dc.identifier1365-2265
dc.identifier10.1111/cen.12136
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/23278115
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/200424
dc.identifier23278115
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1300657
dc.descriptionDifferent inherited profiles of genes involved in cellular mechanisms of activation and detoxification of carcinogenic products can provide specific protection or determine the risk for cancer. Low-penetrance polymorphic genes related to the biotransformation of environmental toxins have been associated with susceptibility to and the phenotype of, human tumours. To investigate the role of germline inheritance of polymorphisms in CYP1A2*F, CYP1A1 m1, GSTP1, NAT2 and TP53 genes in hereditary medullary thyroid carcinoma (HMTC) patients. This study was developed in University of Campinas (Unicamp). We studied 132 patients with HMTC, 88 first-degree relatives of HMTC patients and 575 control individuals. All patients with MTC and their relatives were sequenced for the RET gene and five genes were genotyped using TaqMan(®) system. We observed that the inheritance of CYP1A2*F (OR = 2·10; 95% CI = 1·11-3·97; P = 0·022), GSTP1 (OR = 4·41; 95% CI = 2·47-7·88; P < 0·001) and NAT2 (OR = 2·54; 95% CI = 1·16-5·58; P = 0·020) variants increased the risk for HMTC. In addition, multiple regression analysis showed that the inheritance of GSTP1 polymorphisms was associated with the diagnosis in older patients (B = 8·0229; 95% IC = ± 5·5735; P = 0·0054). Concerning the group of HTMC relatives, CYP1A2*F (OR = 2:40; 95% CI = 1·19-4·86; P = 0·015), CYP1A1 m1 (OR = 2·79; 95% CI = 1:04-7·51; P = 0·042), GSTP1 (OR = 2·86; 95% IC = 1·53-5·32; P < 0·001) and NAT2 (OR = 2·25; 95% IC = 1·20-4·22; P = 0·012) were associated with HMTC risk. We have demonstrated that the inheritance of specific genes determining the individual response to environmental toxins may contribute to the risk and phenotypic variability that exists in patients with HMTC. Moreover, we identified a group at risk in relatives of HMTC patients.
dc.description79
dc.description288-93
dc.languageeng
dc.relationClinical Endocrinology
dc.relationClin. Endocrinol. (Oxf)
dc.rightsfechado
dc.rights© 2012 John Wiley & Sons Ltd.
dc.sourcePubMed
dc.subjectAdolescent
dc.subjectAdult
dc.subjectArylamine N-acetyltransferase
dc.subjectCytochrome P-450 Cyp1a1
dc.subjectCytochrome P-450 Cyp1a2
dc.subjectFemale
dc.subjectGenetic Predisposition To Disease
dc.subjectGlutathione S-transferase Pi
dc.subjectHumans
dc.subjectInactivation, Metabolic
dc.subjectLogistic Models
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectPhenotype
dc.subjectPolymorphism, Genetic
dc.subjectProto-oncogene Proteins C-ret
dc.subjectThyroid Neoplasms
dc.subjectTumor Suppressor Protein P53
dc.titleGenes Of Detoxification Are Important Modulators Of Hereditary Medullary Thyroid Carcinoma Risk.
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución