title: Mapping of constitutional translocation breakpoints in renal cell cancer patients: identification of KCNIP4 as a candidate gene.
abstract: Our group and others had previously developed a high throughput procedure to map translocation breakpoints using chromosome flow sorting in conjunction with microarray-based comparative genomic hybridization (arrayCGH). Here we applied both conventional positional cloning and integrated arrayCGH procedures to the mapping of constitutional chromosome anomalies in four patients with renal cell cancer (RCC), three with a chromosome 3 translocation, and one with an insertion involving chromosome 3. In one of these patients, who was carrying a t(3;4)(p13;p15), the KCNIP4 gene was found to be disrupted. KCNIP4 belongs to a family of potassium channel-interacting proteins and is highly expressed in normal kidney cells. In addition, KCNIP4 splice variants have specifically been encountered in RCC.
authors.affiliation: Department of Human Genetics, Radboud University Nijmegen Medical Centre and Nijmegen Centre for Molecular Life Sciences, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
authors.forename: Anita
authors.initials: A
authors.lastname: Bonne
authors.forename: Lilian
authors.initials: L
authors.lastname: Vreede
authors.forename: Roland P
authors.initials: RP
authors.lastname: Kuiper
authors.forename: Danielle
authors.initials: D
authors.lastname: Bodmer
authors.forename: Corine
authors.initials: C
authors.lastname: Jansen
authors.forename: Marc
authors.initials: M
authors.lastname: Eleveld
authors.forename: Femke
authors.initials: F
authors.lastname: van Erp
authors.forename: Ger
authors.initials: G
authors.lastname: Arkesteijn
authors.forename: Nicoline
authors.initials: N
authors.lastname: Hoogerbrugge
authors.forename: Conny
authors.initials: C
authors.lastname: van Ravenswaaij
authors.forename: Eric F P M
authors.initials: EF
authors.lastname: Schoenmakers
authors.forename: Ad
authors.initials: A
authors.lastname: Geurts van Kessel
mesh_terms: D002292:Carcinoma, Renal Cell / Q000235:genetics*; D045744:Cell Line, Tumor; D019457:Chromosome Breakage; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D002894:Chromosomes, Human, Pair 4; D003001:Cloning, Molecular; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007680:Kidney Neoplasms / Q000235:genetics*; D051605:Kv Channel-Interacting Proteins / Q000235:genetics*; D019656:Loss of Heterozygosity; D016254:Mutagenesis, Insertional; D014178:Translocation, Genetic
chemical_list: C496753:KCNIP4 protein, human; D051605:Kv Channel-Interacting Proteins