Literature DB >> 11826016

Familial adult renal neoplasia.

M Takahashi1, R Kahnoski, D Gross, D Nicol, B T Teh.   

Abstract

Our understanding of the molecular mechanisms underlying the tumorigenesis of renal cell carcinoma (RCC) has partially come from studies of RCC related familial cancer syndromes such as von Hippel-Lindau (VHL) disease and hereditary papillary RCC (HPRC). These studies have led to the identification of RCC related genes, which, besides allowing accurate diagnosis of these diseases, have been found mutated or abnormally expressed in the sporadic counterparts of these familial renal tumours. To date, a number of renal tumour related syndromes have been described. We review recent advances in this field and discuss a genetic approach to managing familial cases of renal tumours occasionally encountered by cancer geneticists and urologists.

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Year:  2002        PMID： 11826016      PMCID： PMC1734964          DOI： 10.1136/jmg.39.1.1

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


  57 in total

1.  Two North American families with hereditary papillary renal carcinoma and identical novel mutations in the MET proto-oncogene.

Authors:  L Schmidt; K Junker; G Weirich; G Glenn; P Choyke; I Lubensky; Z Zhuang; M Jeffers; G Vande Woude; H Neumann; M Walther; W M Linehan; B Zbar
Journal:  Cancer Res       Date:  1998-04-15       Impact factor: 12.701

2.  Association of a novel constitutional translocation t(1q;3q) with familial renal cell carcinoma.

Authors:  H Kanayama ; W O Lui; M Takahashi; T Naroda; D Kedra; F K Wong; Y Kuroki; Y Nakahori; C Larsson; S Kagawa; B T Teh
Journal:  J Med Genet       Date:  2001-03       Impact factor: 6.318

3.  Inherited susceptibility to uterine leiomyomas and renal cell cancer.

Authors:  V Launonen; O Vierimaa; M Kiuru; J Isola; S Roth; E Pukkala; P Sistonen; R Herva; L A Aaltonen
Journal:  Proc Natl Acad Sci U S A       Date:  2001-02-27       Impact factor: 11.205

4.  Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein.

Authors:  M Ohh; C W Park; M Ivan; M A Hoffman; T Y Kim; L E Huang; N Pavletich; V Chau; W G Kaelin
Journal:  Nat Cell Biol       Date:  2000-07       Impact factor: 28.824

5.  Hereditary renal-cell carcinoma associated with a chromosomal translocation.

Authors:  A J Cohen; F P Li; S Berg; D J Marchetto; S Tsai; S C Jacobs; R S Brown
Journal:  N Engl J Med       Date:  1979-09-13       Impact factor: 91.245

Review 6.  Genotype-phenotype correlation in von Hippel-Lindau syndrome.

Authors:  C A Friedrich
Journal:  Hum Mol Genet       Date:  2001-04       Impact factor: 6.150

7.  Activation of HIF1alpha ubiquitination by a reconstituted von Hippel-Lindau (VHL) tumor suppressor complex.

Authors:  T Kamura; S Sato; K Iwai; M Czyzyk-Krzeska; R C Conaway; J W Conaway
Journal:  Proc Natl Acad Sci U S A       Date:  2000-09-12       Impact factor: 11.205

8.  Papillary thyroid carcinoma associated with papillary renal neoplasia: genetic linkage analysis of a distinct heritable tumor syndrome.

Authors:  C D Malchoff; M Sarfarazi; B Tendler; F Forouhar; G Whalen; V Joshi; A Arnold; D M Malchoff
Journal:  J Clin Endocrinol Metab       Date:  2000-05       Impact factor: 5.958

9.  Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons.

Authors:  A R Birt; G R Hogg; W J Dubé
Journal:  Arch Dermatol       Date:  1977-12

10.  Fibrofolliculoma: a clinicopathologic study.

Authors:  K Foucar; T Rosen; E Foucar; R J Cochran
Journal:  Cutis       Date:  1981-10
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  7 in total

Review 1.  Hereditary Renal Tumor Syndromes: Update on Diagnosis and Management.

Authors:  Sonia Gaur; Baris Turkbey; Peter Choyke
Journal:  Semin Ultrasound CT MR       Date:  2016-10-14       Impact factor: 1.875

2.  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

3.  Infrequent alteration of the DPC4 tumor suppressor gene in renal cell carcinoma.

Authors:  Marijana Popović Hadzija; Reno Hrasćan; Maja Herak Bosnar; Zarko Zeljko; Mirko Hadzija; Josip Cadez; Kresimir Pavelić; Sanja Kapitanović
Journal:  Urol Res       Date:  2004-04-24

4.  Genetic evaluation of von Hippel-Lindau disease for early diagnosis and improved prognosis.

Authors:  Sevim Akcaglar; Ismet Yavascaoglu; Hakan Vuruskan; Bulent Oktay
Journal:  Int Urol Nephrol       Date:  2007-12-12       Impact factor: 2.370

5.  Aberrant epithelial morphology and persistent epidermal growth factor receptor signaling in a mouse model of renal carcinoma.

Authors:  Zachary S Morris; Andrea I McClatchey
Journal:  Proc Natl Acad Sci U S A       Date:  2009-06-01       Impact factor: 11.205

6.  A germline 1;3 translocation disrupting the VHL gene: a novel genetic cause for von Hippel-Lindau.

Authors:  Christopher J Ricketts; Cathy D Vocke; Martin Lang; Xiongfong Chen; Yongmei Zhao; Bao Tran; Mayank Tandon; Laura S Schmidt; Mark W Ball; W Marston Linehan
Journal:  J Med Genet       Date:  2020-10-16       Impact factor: 6.318

7.  Inhibition of HIF2alpha is sufficient to suppress pVHL-defective tumor growth.

Authors:  Keiichi Kondo; William Y Kim; Mirna Lechpammer; William G Kaelin
Journal:  PLoS Biol       Date:  2003-12-22       Impact factor: 8.029
  7 in total

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