ArticleJournal of medical genetics1995
Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family.
Article in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 59 citations in OpenAlex.
- A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.Human molecular genetics · 2015Article
- The TOR pathway comes of age.Biochimica et biophysica acta · 2009Review
- Nuclear Pedigree Criteria for the Identification of Individuals Suspected to be at Risk of an Inherited Predisposition to Renal Cancer.Hereditary cancer in clinical practice · 2005Article
- Tumor suppressive role of a 2.4 Mb 9q33-q34 critical region and DEC1 in esophageal squamous cell carcinoma.Oncogene · 2005Article
- Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.American journal of human genetics · 2004Article
- Familial adult renal neoplasia.Journal of medical genetics · 2002Review
- Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas.British journal of cancer · 2001Article
- Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background.The Journal of clinical investigation · 1999Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multifocal renal cell carcinomas (RCCs), together with angiomyolipomas (AMLs) and renal cysts, were identified in early adult life in two sisters with tuberous sclerosis (TSC). They were members of a multigenerational tuberous sclerosis family showing strong evidence for a mutant TSC causing gene on chromosome 9 (TSC1). Previous reports of multifocal RCC in young patients with TSC suggest that constitutional mutations at the TSC loci may predispose to RCC. In the rat a germline mutation affecting the TSC2 gene is associated with transmission of multifocal RCC as an autosomal dominant trait. However, the cases reported here are the first to suggest a similar role for the TSC1 gene in renal cell carcinogenesis.
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Registered trials
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