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Peer Reviewed Scientific Research Reports.
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1. Molecular analysis of two uncharacterized sequence variants of the VHL gene.
Match Strength: 9.099
Mutations in the VHL gene cause von Hippel-Lindau disease, a cancer predisposing syndrome characterized by a variety of benign and malignant neoplasms. We report the molecular characterization of two sequence variants of the VHL gene: a synonymous substitution c.462 A>C in exon 2 and a duplication of 11 bp in the promoter region (c.-65_-55dup11). The first variant is a pathogenic mutation because, although it does not change the sense of the affected codon, it causes skipping of exon 2 in the affected allele by altering the splicing consensus site at the 3' end of exon 2. The 11 bp ... Read More »
» Published in J Hum Genet. 2006;51(11):964-8. Epub 2006 Sep 28.
2. Targeted approaches for treating advanced clear cell renal carcinoma.
Match Strength: 7.303
The mainstay of any curative treatment in renal cell carcinoma (RCC) is surgery. In the case of metastatic disease at presentation, a radical nephrectomy is recommended to good performance status patients prior to the start of cytokine treatment. Interferon (IFN)-a offers in a small but significant percentage of patients advantage in overall survival. Interleukin (IL)-2-based therapy gives similar survival rates. To date, hormonal therapy and chemotherapy do not have a proven impact on survival. Recent insights demonstrate that the majority of clear cell RCC harbor abnormalities of the von ... Read More »
» Published in Onkologie. 2006 Sep;29(8-9):394-402. Epub 2006 Sep 6.
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