title: Absence of allelic imbalance involving EMSY, CAPN5, and PAK1 genes in papillary thyroid carcinoma.
abstract: Papillary thyroid cancer (PTC) accounts for 80% of all thyroid malignancies, and genetic alterations associated to its etiology remain largely unknown. Chromosomal band 11q13 seems to be one of the most frequently amplified regions in human cancer, providing several candidate genes that need detailed characterization. The aim of our study was to investigate the existence of allelic imbalance at EMSY, CAPN5, and PAK1, as candidate genes within 11q13.5-q14 region using a single nucleotide polymorphism-based analysis. We selected a panel of 9 polymorphisms that were analyzed in 41 thyroid carcinoma samples, their contralateral non-pathological tissue and 178 controls from the general population. We did not detect allelic imbalance at these loci in our series. However, we observed a difference in the EMSY-haplotype distribution among PTC patients when compared to controls (odds ratio=2.00; p=0.02). We conclude that 11q13.5-q14 is not imbalanced in PTC, but there is evidence suggesting that EMSY might be of relevance in PTC etiology.
authors.affiliation: Department of Surgery, Hospital Doce de Octubre, Madrid, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Hidalgo
authors.forename: M E
authors.initials: ME
authors.lastname: Saez
authors.forename: F J
authors.initials: FJ
authors.lastname: Martinez-Tello
authors.forename: F J
authors.initials: FJ
authors.lastname: Moron
authors.forename: E
authors.initials: E
authors.lastname: Ferrero-Herrero
authors.forename: M
authors.initials: M
authors.lastname: Labalde-Martinez
authors.forename: D
authors.initials: D
authors.lastname: Rigopoulou
authors.forename: C
authors.initials: C
authors.lastname: Ballestin-Carcavilla
authors.forename: A
authors.initials: A
authors.lastname: Ruiz
authors.forename: J L
authors.initials: JL
authors.lastname: Royo
authors.forename: R
authors.initials: R
authors.lastname: Ramirez-Lorca
mesh_terms: D022981:Allelic Imbalance; D002154:Calpain / Q000235:genetics*; D002291:Carcinoma, Papillary / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012097:Repressor Proteins / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*; D054462:p21-Activated Kinases / Q000235:genetics*
chemical_list: C480344:EMSY protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C515903:PAK1 protein, human; D054462:p21-Activated Kinases; D002154:Calpain; C494426:Capn5 protein, human
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