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

Pancreatic cancer is a type of cancer that develops in the pancreas. Global cancer statistics in 2020 estimated that pancreatic cancer was the 7th leading cause of death in cancer patients. Hereditary pancreatic cancer occurs when a germline mutation is passed from parents to children, and accounts for up to 10% of pancreatic cancer cases.

 

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?

You should get tested if you meet at least one of the criteria below:

• You have a first-degree relative who developed pancreatic cancer before the age of 50

• You have several family members on the same side of the family with pancreatic cancer

• You have a personal or family history of a hereditary cancer syndrome linked to pancreatic cancer

• You have 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)

 

Recommendations by professional bodies

“Multigene panel testing, covering BRCA1, BRCA2, PALB2, CDKN2A, is recommended for families with a strong clustering of pancreatic cancer” (Stjepanovic et al., 2019; ESMO)

 

References and more information: 

Lynch HT, Smyrk T, Kern SE, et al. Familial pancreatic cancer: a review. Semin Oncol. 1996 Apr;23(2):251–275

Brand RE, Lynch HT. Hereditary pancreatic adenocarcinoma. A clinical perspective. Med Clin North Am. 2000 May;84(3):665–675.

Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, Bray F. Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries. CA Cancer J Clin. 2021;71:209–249.

Stjepanovic N, Moreira L, Carneiro F, Balaguer F, Cervantes A, Balmaña J, Martinelli E; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org. Hereditary gastrointestinal cancers: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up†. Ann Oncol. 2019 Oct 1;30(10):1558-1571. doi: 10.1093/annonc/mdz233. PMID: 31378807.

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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