title: Identification of copy number alterations and its association with pathological features in clear cell and papillary RCC.
abstract: We report and characterize the copy number alterations (CNAs) in 35 clear cell and 12 papillary renal cell carcinomas (RCC) using Affymetrix 100K SNP arrays. Novel gain and loss regions are identified in both subtypes. In addition, statistically significant CNA are detected and associated with the pathological features: VHL mutation status, tumor grades, and sarcomatoid component in clear cell RCC and in types 1 and 2 of papillary RCC. Florescence in situ hybridization confirmed the copy number gain in the transforming growth factor, beta-induced gene (TGFBI), which is a possible oncogene for clear cell RCC.
authors.affiliation: Laboratory of Cancer Genetics/Sequencing, Van Andel Research Institute, 333 Bostwick Avenue N.E., Grand Rapids, MI 49503, USA.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Matsuda
authors.forename: Sok Kean
authors.initials: SK
authors.lastname: Khoo
authors.forename: Aaron
authors.initials: A
authors.lastname: Massie
authors.forename: Masatsugu
authors.initials: M
authors.lastname: Iwamura
authors.forename: Jindong
authors.initials: J
authors.lastname: Chen
authors.forename: David
authors.initials: D
authors.lastname: Petillo
authors.forename: Bill
authors.initials: B
authors.lastname: Wondergem
authors.forename: Michael
authors.initials: M
authors.lastname: Avallone
authors.forename: Stephanie J
authors.initials: SJ
authors.lastname: Kloostra
authors.forename: Min-Han
authors.initials: MH
authors.lastname: Tan
authors.forename: Julie
authors.initials: J
authors.lastname: Koeman
authors.forename: Zhongfa
authors.initials: Z
authors.lastname: Zhang
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Kahnoski
authors.forename: Shiro
authors.initials: S
authors.lastname: Baba
authors.forename: Bin Tean
authors.initials: BT
authors.lastname: Teh
mesh_terms: D000368:Aged; D001483:Base Sequence; D002291:Carcinoma, Papillary / Q000235:genetics* / Q000473:pathology; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology; D002877:Chromosomes, Human; D017931:DNA Primers; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics
chemical_list: D017931:DNA Primers; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human