Inherited Renal Cancer Syndromes – Clinician Information

  • Clinical manifestations and diagnosis

    The inclusion criteria are as follows:

    • A molecular or clinical diagnosis according to standard criteria of any of the following conditions
      1. Von Hippel Lindau disease (VHL) OMIM 193300
      2. PTEN hamartoma tumour syndrome (Cowden syndrome) OMIM 158350
      3. Birt Hogg Dube syndrome (BHD) OMIM 135150
      4. Hereditary leiomyomatosis and renal cell cancer syndrome(HLRCC) OMIM 150800
      5. Succinate dehydrogenase-related tumour predisposition syndrome
      6. BAP1-related tumour predisposition syndrome OMIM 614327
      7. Hereditary Type 1 papillary renal cell carcinoma syndrome (MET oncogene) OMIM 605074
    • Two or more cases in first degree relatives of any type of renal cancer without an established  molecular or clinical diagnosis
    • Bilateral, multiple primary renal cancers of any histopathological type with or with a family history
Inherited Renal Cancer Syndromes Clinician Information Version 1 Updated April 2020
Written by the Mitochondrial disease Rare Disease Group