Submit Manuscript  

Article Details


Familial Non-Syndromic Clear Cell Renal Cell Carcinoma

[ Vol. 4 , Issue. 8 ]

Author(s):

Emma R. Woodward   Pages 843 - 848 ( 6 )

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

Affiliation:

Clinical Genetics Unit,Birmingham Women's Hospital, Metchley Park Road, Edgbaston, Birmingham, B15 2TG, UK.



Read Full-Text article