Sökning: id:"swepub:oai:DiVA.org:oru-49006" >
Novel somatic mutat...
Novel somatic mutations in the VHL gene in Swedish archived sporadic renal cell carcinomas
-
- Yang, K. (författare)
- CNT, Department of Biosciences at Novum, Karolinska Institute, Huddinge, Sweden
-
- Lindblad, Per, 1953- (författare)
- Department of Medical Epidemiology, Karolinska Institute, Stockholm, Sweden
-
- Egevad, L. (författare)
- Karolinska Institutet
-
visa fler...
-
- Hemminki, K. (författare)
- CNT, Department of Biosciences at Novum, Karolinska Institute, Huddinge, Sweden
-
visa färre...
-
(creator_code:org_t)
- Clare, Ireland : Elsevier, 1999
- 1999
- Engelska.
-
Ingår i: Cancer Letters. - Clare, Ireland : Elsevier. - 0304-3835 .- 1872-7980. ; 141:1-2, s. 1-8
- Relaterad länk:
-
https://urn.kb.se/re...
-
visa fler...
-
https://doi.org/10.1...
-
http://kipublication...
-
visa färre...
Abstract
Ämnesord
Stäng
- 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).
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Nyckelord
- 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
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas