Hereditary and familial kidney cancer Journal Article


Authors: Coleman, J. A.; Russo, P.
Article Title: Hereditary and familial kidney cancer
Abstract: PURPOSE OF REVIEW: Changing strategies in the evaluation and treatment of renal neoplasms have been fostered by developments in the understanding of the genetics and molecular biology of renal tumors. Many of these discoveries have come from research into hereditary kidney cancer syndromes and the genetic mutations responsible for tumorigenesis. The purpose of this review is to familiarize the reader with the known heritable forms of kidney cancer, the recent advances in the field and their impact on patient management. RECENT FINDINGS: Genetic and phenotypic characterization of renal cancer syndromes includes von Hippel-Lindau disease, Birt-Hogg-Dube syndrome, hereditary papillary renal carcinoma, and hereditary leiomyomatosis and renal carcinoma. SUMMARY: Hereditary kidney cancer syndromes offer valuable insight into the pathogenesis of kidney cancer through identification of the underlying genetic mechanisms common to hereditary and sporadic forms of disease. An understanding of the manifestations of these diseases is necessary to allow for accurate diagnosis of patients and to provide the opportunity for appropriate screening. Conservative management strategies have been developed and should be followed to limit treatment-related morbidity. © 2009 Wolters Kluwer Health | Lippincott Williams & Wilkins.
Keywords: gene mutation; genetics; clinical feature; pathogenesis; review; diagnostic accuracy; phenotype; gene; morbidity; carcinoma, papillary; kidney carcinoma; kidney neoplasms; carcinogenesis; oncogene; patient care; carcinoma, renal cell; familial cancer; birt-hogg-dube; hereditary kidney cancer; hereditary leiomyomatosis renal cell carcinoma; hereditary papillary renal carcinoma; von hippel-lindau; bhd gene; birt hogg dube syndrome; c met gene; genetic risk; kidney cancer; leiomyomatosis; molecular biology; papillary carcinoma; vhl gene; von hippel lindau disease; von hippel-lindau disease
Journal Title: Current Opinion in Urology
Volume: 19
Issue: 5
ISSN: 0963-0643
Publisher: Lippincott Williams & Wilkins  
Date Published: 2009-09-01
Start Page: 478
End Page: 485
Language: English
DOI: 10.1097/MOU.0b013e32832f0d40
PUBMED: 19584731
PROVIDER: scopus
DOI/URL:
Notes: --- - "Cited By (since 1996): 3" - "Export Date: 30 November 2010" - "CODEN: CUOUE" - "Source: Scopus"
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  1. Jonathan Coleman
    341 Coleman
  2. Paul Russo
    581 Russo