Chromosome 3 translocations and the risk to develop renal cell cancer: a Dutch intergroup study

Genet Couns. 2003;14(2):149-54.

Abstract

Renal cell carcinomas (RCC) occur in both sporadic and familial forms. The best known example of a familial RCC syndrome is the Von Hippel Lindau cancer syndrome. In addition, RCC families segregating constitutional chromosome 3 translocations have been reported. The list of these latter families is rapidly expanding. We have initiated a survey of all Dutch families known to segregate chromosome 3 translocations for (i) the ocurrence of RCCs and (ii) the establishment of refined risk estimates. This information will be critical for genetic counseling and clinical patient management. Within the families 'at risk' that we have identified so far, this approach has already led to early RCC detection and surgical intervention.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Carcinoma, Renal Cell / genetics*
  • Chromosomes, Human, Pair 3 / genetics*
  • Female
  • Humans
  • Kidney Neoplasms / genetics*
  • Ligases / genetics
  • Male
  • Middle Aged
  • Point Mutation / genetics
  • Risk Factors
  • Translocation, Genetic / genetics*
  • Tumor Suppressor Proteins*
  • Ubiquitin-Protein Ligases*
  • Von Hippel-Lindau Tumor Suppressor Protein

Substances

  • Tumor Suppressor Proteins
  • Ubiquitin-Protein Ligases
  • Von Hippel-Lindau Tumor Suppressor Protein
  • Ligases
  • VHL protein, human