Mapping of constitutional translocation breakpoints in renal cell cancer patients: identification of KCNIP4 as a candidate gene

Autor: Lilian Vreede, Marc J. Eleveld, Corine Jansen, Conny M.A. van Ravenswaaij, Anita Bonne, Danielle Bodmer, Eric F.P.M. Schoenmakers, Ferake van Erp, Roland P. Kuiper, Nicoline Hoogerbrugge, Ger J. A. Arkesteijn, Ad Geurts van Kessel
Rok vydání: 2007
Předmět:
EXPRESSION
Cancer Research
Candidate gene
Positional cloning
CARCINOMA
Genetics and epigenetic pathways of disease [NCMLS 6]
T(2/3)(Q35
Q21)
Loss of Heterozygosity
Chromosomal translocation
Biology
HEREDITARY
Translocation
Genetic
CLASSIFICATION
Loss of heterozygosity
Molecular epidemiology [NCEBP 1]
Translational research [ONCOL 3]
Cell Line
Tumor
Q21)
Genetics
Humans
T(2/3)(Q35
Cloning
Molecular
Carcinoma
Renal Cell
Molecular Biology
In Situ Hybridization
Fluorescence
Molecular diagnosis
prognosis and monitoring [UMCN 1.2]
KIDNEY CANCER
Hereditary cancer and cancer-related syndromes [ONCOL 1]
MUTATIONS
Chromosome Mapping
Chromosome
Chromosome Breakage
Kv Channel-Interacting Proteins
TUMORS
Kidney Neoplasms
CHROMOSOME-3 TRANSLOCATIONS
Mutagenesis
Insertional
Chromosome 3
Chromosomes
Human
Pair 3
Chromosomes
Human
Pair 4
Chromosome breakage
BREAKPOINT
Comparative genomic hybridization
Zdroj: Cancer Genetics and Cytogenetics, 179, 1, pp. 11-8
Cancer Genetics and Cytogenetics, 179(1), 11-18. ELSEVIER SCIENCE INC
Cancer Genetics and Cytogenetics, 179, 11-8
ISSN: 0165-4608
Popis: Contains fulltext : 52260.pdf (Publisher’s version ) (Closed access) 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.
Databáze: OpenAIRE
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