SCIENTIFIC BACKGROUND

APC, ATM, BRCA1, BRCA2, BMPR1A, CDK4, CDKN2A, (CDKN2Ap16(INK4A), CDKN2Ap14(ARF)), EPCAM, MEN1, MLH1, MSH2, MSH6, PALB2, PMS2, SMAD4, STK11, TP53

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Scientific Background

PreSENTIA hereditary Pancreatic cancer panel tests for numerous germline mutations that could cause pancreatic 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 pancreatic cancers are those that have:

  • • Several family members in the same side of the family with pancreatic cancer
  • • First-degree relative who developed pancreatic cancer before the age of 50
  • • Personal or family history of a hereditary cancer syndrome linked to pancreatic cancer
  • • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility

 

How many genes are tested in this panel?

17 genes

 

How many hereditary cancer syndromes are associated with this panel?

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

Ataxia-telangiectasia syndrome (ATM)

  • Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)
  • Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)
  • Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)
  • Hereditary melanoma-pancreatic cancer syndrome (CDKN2A, CDK4)
  • Juvenile polyposis syndrome (SMAD4, BMPR1A)
  • Li-Fraumeni syndrome (TP53)
  • Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
  • Multiple endocrine neoplasia type 1 (MEN1)
  • Peutz-Jeghers syndrome (STK11)
GENES
APC, ATM, BRCA1, BRCA2, BMPR1A, CDK4, CDKN2A, (CDKN2Ap16(INK4A), CDKN2Ap14(ARF)), EPCAM, MEN1, MLH1, MSH2, MSH6, PALB2, PMS2, SMAD4, STK11, TP53
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