Literature DB >> 8592324

Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family.

J R Sampson1, A Patel, A D Mee.   

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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Year:  1995        PMID： 8592324      PMCID： PMC1051732          DOI： 10.1136/jmg.32.11.848

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  18 in total

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Authors:  T Kobayashi; Y Hirayama; E Kobayashi; Y Kubo; O Hino
Journal:  Nat Genet       Date:  1995-01       Impact factor: 38.330

5.  Tuberous sclerosis with angiomyolipoma and metastasized hypernephroma.

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Journal:  Urology       Date:  1986-11       Impact factor: 2.649

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Journal:  Lancet       Date:  1987-03-21       Impact factor: 79.321

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Journal:  J Urol       Date:  1989-04       Impact factor: 7.450

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Authors:  J I Everitt; T L Goldsworthy; D C Wolf; C L Walker
Journal:  J Urol       Date:  1992-12       Impact factor: 7.450

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Authors:  S Takeuchi; S Gotoh; K Tari; Y Kanda; M Ishii; M Fujiwara
Journal:  Hinyokika Kiyo       Date:  1984-05
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  7 in total

Review 1.  Familial adult renal neoplasia.

Authors:  M Takahashi; R Kahnoski; D Gross; D Nicol; B T Teh
Journal:  J Med Genet       Date:  2002-01       Impact factor: 6.318

2.  Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background.

Authors:  H Onda; A Lueck; P W Marks; H B Warren; D J Kwiatkowski
Journal:  J Clin Invest       Date:  1999-09       Impact factor: 14.808

3.  A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.

Authors:  Magdalena E Tyburczy; Sergiusz Jozwiak; Izabela A Malinowska; Yvonne Chekaluk; Trevor J Pugh; Chin-Lee Wu; Robert L Nussbaum; Sara Seepo; Tomasz Dzik; Katarzyna Kotulska; David J Kwiatkowski
Journal:  Hum Mol Genet       Date:  2014-11-28       Impact factor: 6.150

4.  Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.

Authors:  Sakari Vanharanta; Mary Buchta; Sarah R McWhinney; Sanna K Virta; Mariola Peçzkowska; Carl D Morrison; Rainer Lehtonen; Andrzej Januszewicz; Heikki Järvinen; Matti Juhola; Jukka-Pekka Mecklin; Eero Pukkala; Riitta Herva; Maija Kiuru; Nina N Nupponen; Lauri A Aaltonen; Hartmut P H Neumann; Charis Eng
Journal:  Am J Hum Genet       Date:  2003-12-18       Impact factor: 11.025

5.  Nuclear Pedigree Criteria for the Identification of Individuals Suspected to be at Risk of an Inherited Predisposition to Renal Cancer.

Authors:  Aleksandra Tołoczko-Grabarek; Andrzej Sikorski; Marek Brzosko; Jan Lubiński
Journal:  Hered Cancer Clin Pract       Date:  2005-08-15       Impact factor: 2.857

Review 6.  The TOR pathway comes of age.

Authors:  Monique N Stanfel; Lara S Shamieh; Matt Kaeberlein; Brian K Kennedy
Journal:  Biochim Biophys Acta       Date:  2009-06-16

7.  Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas.

Authors:  L Parry; J H Maynard; A Patel; S C Clifford; C Morrissey; E R Maher; J P Cheadle; J R Sampson
Journal:  Br J Cancer       Date:  2001-10-19       Impact factor: 7.640
  7 in total

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