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
Current Molecular Medicine
Title: Familial Non-Syndromic Clear Cell Renal Cell Carcinoma
Volume: 4 Issue: 8
Author(s): Emma R. Woodward
Affiliation:
Keywords: renal cell carcinoma, von hippel-lindau(vhl) disease, chromosome, vhl gene mutation, molecular genetic
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).
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Cite this article as:
Woodward R. Emma, Familial Non-Syndromic Clear Cell Renal Cell Carcinoma, Current Molecular Medicine 2004; 4 (8) . https://dx.doi.org/10.2174/1566524043359728
DOI https://dx.doi.org/10.2174/1566524043359728 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
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