title: Analysis of DNA mismatch repair gene expression and mutations in thyroid tumours.
abstract: Alterations of DNA mismatch repair genes, primarily demonstrated in hereditary nonpolyposis colorectal carcinomas, were reported to be of relevance for the progression of several sporadic tumours. In this study, the expression and mutations of MLH1, MSH2, PMS1 and PMS2 in a panel of thyroid tumours, including nodular hyperplasia, follicular adenomas and carcinomas, were investigated. The expressions of MLH1, MSH2 and PMS1 were generally higher in malignant tumours than in benign lesions (p < 0.01). This observation can find potential diagnostic application in the differentiation of follicular adenomas from follicullar carcinomas of the thyroid. No point mutations in the DNA mismatch repair genes MSH2 (exon 12, 13) and MLH1 (exon 15, 16) were found.
authors.affiliation: Cytological Laboratory, Einbeck, Germany.
authors.forename: Ilka
authors.initials: I
authors.lastname: Ruschenburg
authors.forename: Beate
authors.initials: B
authors.lastname: Vollheim
authors.forename: Jerzy
authors.initials: J
authors.lastname: Stachura
authors.forename: Carlos
authors.initials: C
authors.lastname: Cordon-Cardo
authors.forename: Monika
authors.initials: M
authors.lastname: Korabiowska
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D018263:Adenocarcinoma, Follicular / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D000236:Adenoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D000251:Adenosine Triphosphatases / Q000096:biosynthesis / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D020137:Base Pair Mismatch; D001483:Base Sequence; D002291:Carcinoma, Papillary / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D002352:Carrier Proteins / Q000096:biosynthesis / Q000235:genetics; D004260:DNA Repair / Q000235:genetics*; D045643:DNA Repair Enzymes / Q000096:biosynthesis / Q000235:genetics; D004268:DNA-Binding Proteins / Q000096:biosynthesis / Q000235:genetics; D005260:Female; D015870:Gene Expression; D006801:Humans; D006965:Hyperplasia; D008297:Male; D008875:Middle Aged; D000070976:Mismatch Repair Endonuclease PMS2; D008969:Molecular Sequence Data; D000070957:MutL Protein Homolog 1; D000070956:MutL Proteins; D051718:MutS Homolog 2 Protein / Q000096:biosynthesis / Q000235:genetics; D009154:Mutation; D009361:Neoplasm Invasiveness; D009363:Neoplasm Proteins / Q000096:biosynthesis / Q000235:genetics; D009687:Nuclear Proteins / Q000096:biosynthesis / Q000235:genetics; D013961:Thyroid Gland / Q000473:pathology; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D004268:DNA-Binding Proteins; C501486:MLH1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; C088996:PMS1 protein, human; D000251:Adenosine Triphosphatases; C094934:PMS2 protein, human; C497172:MSH2 protein, human; D000070976:Mismatch Repair Endonuclease PMS2; D000070957:MutL Protein Homolog 1; D000070956:MutL Proteins; D051718:MutS Homolog 2 Protein; D045643:DNA Repair Enzymes