SCIENTIFIC BACKGROUND

BAP1, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, SDHAF2, SDHB, SDHC, SDHD, TP53, VHL

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Scientific Background

PreSENTIA hereditary Renal cancer panel tests for numerous germline mutations that could cause renal (kidney) cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

 

Who is this test for?

According to genetic testing guidelines, people who might benefit from genetic testing for hereditary renal cancers are those that have:

  • • Family members that have had renal cancer, especially at a young age
  • • Family members with renal cancer in both kidneys
  • • Family members diagnosed with a hereditary cancer syndrome associated with renal cancer
  • • Personal history of a hereditary cancer syndrome associated with renal cancer
  • • Multiple cancers in the same family member
  • • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
  • • Personal history of previous malignancies

 

How many genes are tested in this panel?

13 genes

 

How many hereditary cancer syndromes are associated with this panel?

7 Hereditary cancer syndromes are associated with this panel. These are:

  • BAP1 mutation associated disease (BAP1)
  • Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)
  • Hereditary Paraganglioma – Pheochromocytoma syndrome (SDHD, SDHAF2, SDHC, SDHB)
  • Li-Fraumeni syndrome (TP53)
  • Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
  • PTEN hamartoma syndrome (PTEN)
  • Von-Hippel Lindau syndrome (VHL)
GENES
BAP1, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, SDHAF2, SDHB, SDHC, SDHD, TP53, VHL
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