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Hereditary Kidney Cancer (HKC)

Definition

HKC accounts for approximately 5% of all kidney cancers. HKC is usually associated to polyneoplasic genes, providing risk to develop tumors in other organs, this includes Von-Hippel-Lindau Syndrome, Birt-Hogg-Dubé Syndrome, hereditary leiomyomatosis and renal cell cancer, Cowden Syndrome, hereditary paraganglioma-pheochromocytoma syndrome, tubuerous sclerosis and BAP1 cancer susceptibility syndrome. Some others are specific of kidney, including  the hereditary papillary renal cell carcinoma. New molecular targeting agents have been devloped for these rare conditions, therefore, the precise genetic diagnosis is important.

Why to perform genetic testing in cases with suspected HKC

  • To better perform risk stratification and prognosis
  • To select the best therapeutic option for that spcific patient based on the genotype
  • To identify other relatives at risk to develop the disease

 

Our HKC panel

BAP1, FH, FLCN, MET, PTEN, SDHB, TSC1, TSC2, VHL

Important: All our panels can be modified based on the phenotype. Please contact us if you have questions

What to expect from this test: When the clinical diagnposis is suspected the yield of the genetic test is close to 80%

 

Recommended Literature

  • Genetic Predisposition to Renal Cell Carcinoma: Implications for Counseling, Testing, Screening, and Management. Shuch B, Zhang J. J Clin Oncol. 2018
  • Hereditary kidney cancer syndromes: Genetic disorders driven by alterations in metabolism and epigenome regulation. Hisashi Hasumi, Masahiro Yao. Cancer Science 2018;109:581-586.
  • Renal cell cancers: unveiling the hereditary ones and saving lives-a tailored diagnostic approach. Kallinikas G., et al. Int Urol Nephrol. 2017 Sep;49(9):1507-1512.

 

Download here interesting open access manuscripts on HKC