SCIENTIFIC BACKGROUND

APC, BMPR1A, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, SMAD4, STK11

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Scientific Background

PreSENTIA hereditary Colorectal High-Risk cancer panel tests for numerous germline mutations that could cause colorectal 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 cancers are those that have:

• At least 1 first-degree family member with colorectal cancer

  • • Personal or family history of colorectal polyps or colorectal cancer
  • • Personal history of a confirmed or suspected hereditary colorectal cancer syndrome
  • • Family members diagnosed with cancer at a young age
  • • Family members diagnosed with rare forms of 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?

10 genes

 

How many hereditary cancer syndromes are associated with this panel?

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

Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)

• Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)

  • Juvenile Polyposis syndrome (SMAD4, BMPR1A)

• Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)

• MUTYH-associated polyposis syndrome (MUTYH)

• Peutz-Jeghers syndrome (STK11)

GENES
APC, BMPR1A, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, SMAD4, STK11
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