Molecular genetics of hereditary renal cancer: new genes and diagnostic and therapeutic opportunities

Abstract

Renal cell carcinoma may be sporadic or occur in the setting of an inherited cancer syndrome, such as von Hippel-Lindau or Birt–Hogg–Dube syndrome. Although the clinical spectrum of heritable renal cancer syndromes varies significantly, commonalities include the often young age of presentation, multifocal and bilateral nature of renal lesions, and autosomal dominant pattern of inheritance. Molecular studies have recently begun to elucidate the genetic abnormalities and subsequent alterations in downstream intracellular signaling cascades that underlie the development of these syndromes. This review will highlight the clinicopathologic and molecular features associated with the diverse array of heritable renal cancer syndromes and emphasize the potential cellular pathways that may be utilized to develop novel treatment strategies for patients with these syndromes.

Keywords::

• genetics
• inherited
• intracellular signaling
• kidney cancer
• molecular diagnostics
• neoplasm
• screening
• syndrome
• transcription

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.