SCIENTIFIC BACKGROUND

APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, PMS2, SDHB, SDHC, SDHD, SMAD4, STK11, TP53

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Scientific Background

PreSENTIA hereditary Gastric cancer panel tests for numerous germline mutations that could cause gastric (stomach) 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 gastric cancers are those that have:

  • • Several family members in the same side of the family with gastric cancer
  • • Personal or family history of a hereditary cancer syndrome linked to gastric cancer
  • • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility

 

How many genes are tested in this panel?

14 genes

 

How many hereditary cancer syndromes are associated with this panel?

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

  • Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)
  • Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)
  • Hereditary diffuse gastric syndrome (CDH1)
  • Hereditary Paraganglioma – Pheochromocytoma syndrome (SDHD, SDHAF2, SDHC, SDHB)
  • Juvenile polyposis syndrome (SMAD4, BMPR1A)
  • Li-Fraumeni syndrome (TP53)
  • Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
  • Peutz-Jeghers syndrome (STK11)
GENES
APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, PMS2, SDHB, SDHC, SDHD, SMAD4, STK11, TP53
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