Genetic disorders and renal cell carcinoma

Jodi K Maranchie; W Marston Linehan

doi:10.1016/s0094-0143(02)00120-9

Genetic disorders and renal cell carcinoma

Urol Clin North Am. 2003 Feb;30(1):133-41. doi: 10.1016/s0094-0143(02)00120-9.

Authors

Jodi K Maranchie¹, W Marston Linehan

Affiliation

¹ Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, 9000 Rockville Pike, Building 10/2B47, Bethesda, MD 20892, USA.

PMID: 12580565
DOI: 10.1016/s0094-0143(02)00120-9

Abstract

The study of hereditary RCC syndromes continues to provide significant insight into the pathways that are involved in renal cell tumorigenesis. The clinician should maintain a high level of suspicion for genetic disorders when patients present with early-onset or mult-focal RCC. Recognition of familial syndromes will facilitate the institution of parenchymal sparing measures, as well as appropriate screening and intervention for associated nonrenal manifestations.

Publication types

Review

MeSH terms

Carcinoma, Renal Cell / genetics*
Carcinoma, Renal Cell / pathology
Genes, Dominant
Genetic Linkage
Genetic Predisposition to Disease*
Humans
Kidney Neoplasms / genetics*
Kidney Neoplasms / pathology
Ligases / genetics
Syndrome
Tumor Suppressor Proteins*
Ubiquitin-Protein Ligases*
Von Hippel-Lindau Tumor Suppressor Protein
von Hippel-Lindau Disease / genetics

Substances

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