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Current Molecular Medicine

Editor-in-Chief

ISSN (Print): 1566-5240
ISSN (Online): 1875-5666

Familial Non-Syndromic Clear Cell Renal Cell Carcinoma

Author(s): Emma R. Woodward

Volume 4, Issue 8, 2004

Page: [843 - 848] Pages: 6

DOI: 10.2174/1566524043359728

Price: $65

Abstract

The diagnosis of familial non-syndromic clear cell renal cell carcinoma is one of exclusion. In families presenting with clear cell RCC a germline VHL mutation and a consitutional translocation of chromosome 3 must be excluded before familial non-syndromic clear cell RCC can be diagnosed. Large familial non-syndromic clear cell RCC kindreds are uncommon and a predisposing gene has not been identified. However inheritance is autosomal dominant in most cases and age at onset is earlier than in sporadic cases. Recognition and appropriate screening of familial non-syndromic clear cell RCC cases will reduce morbidity and mortality. Large scale collaborative linkage studies may provide a basis for the identification of familial non-syndromic clear cell RCC susceptibility gene(s).

Keywords: renal cell carcinoma, von hippel-lindau(vhl) disease, chromosome, vhl gene mutation, molecular genetic


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