Familial non-syndromic clear cell renal cell carcinoma.

Research output: Contribution to journalArticle

Authors

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 constitutional 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).

Details

Original languageEnglish
Pages (from-to)843-8
Number of pages6
JournalCurrent Molecular Medicine
Volume4
Issue number8
Publication statusPublished - 1 Dec 2004