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Novel somatic mutations in the VHL gene in Swedish archived sporadic renal cell carcinomas
CNT, Department of Biosciences at Novum, Karolinska Institute, Huddinge, Sweden.
Department of Medical Epidemiology, Karolinska Institute, Stockholm, Sweden.
Department of Pathology, Academic Hospital, Uppsala, Sweden.
CNT, Department of Biosciences at Novum, Karolinska Institute, Huddinge, Sweden.
1999 (English)In: Cancer Letters, ISSN 0304-3835, E-ISSN 1872-7980, Vol. 141, no 1-2, 1-8 p.Article in journal (Refereed) Published
Abstract [en]

Frequent loss-of-function somatic mutations of the VHL gene have been detected in sporadic renal cell carcinoma (RCC), indicating that inactivation of the VHL gene plays a critical role in RCC. In this study, we collected 35 archived Swedish sporadic RCCs identified from an epidemiological study on occupational exposure and kidney cancer to test how well stored pathological specimens could be retrieved and analyzed for VHL mutations. Thirty specimens were successfully analyzed with PCR-SSCP and sequencing. Aberrant SSCP bands were detected in 16 out of the 30 samples (53%). Sequencing analysis of the aberrant bands revealed seven deletions, one insertion, one base substitution on a splicing site, six missense mutations, one silent mutation and several base substitutions in the 5' non-coding region and intron 1. Most were novel somatic mutations that have not been reported in sporadic RCC. The mutations were found in three types of non-papillary RCC cases, i.e. 14 clear cells, one granular chromophilic and one sarcomatoid RCC. Interesting multiple mutations were found in three cases (5, 3, 2 mutations, respectively).

Place, publisher, year, edition, pages
Clare, Ireland: Elsevier, 1999. Vol. 141, no 1-2, 1-8 p.
Keyword [en]
Adult, Aged, Carcinoma, Renal Cell/*genetics, Case-Control Studies, DNA Mutational Analysis, Gene Frequency, Humans, Kidney Neoplasms/*genetics, *Ligases, Male, Middle Aged, Mutation, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, Proteins/*genetics, Sequence Deletion, *Tumor Suppressor Proteins, *Ubiquitin-Protein Ligases, Von Hippel-Lindau Tumor Suppressor Protein
National Category
Cancer and Oncology
URN: urn:nbn:se:oru:diva-49006ISI: 000081116900001PubMedID: 10454237ScopusID: 2-s2.0-0032979092ISBN: 0304-3835 (Print) 0304-3835 (Linking)OAI: oai:DiVA.org:oru-49006DiVA: diva2:1061255
Available from: 2017-01-01 Created: 2016-03-06 Last updated: 2017-01-10Bibliographically approved

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