SCIENTIFIC BACKGROUND

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

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Scientific Background

Colorectal cancer is a genetic disease in which the cells in the colon or rectum divide uncontrollably forming tumors. In 2020, colorectal cancer was the 3rd most common type of cancer worldwide. Hereditary colorectal cancer accounts for about 5-10% of all colorectal cancer cases (Ferley et al., 2020). Patients with an inherited germline mutation have increased risk of developing colorectal cancer in the future. The genes tested in this panel have been identified to increase the risk of developing cancer in the future.

 

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?

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

You have a personal history of colorectal cancer

You have a personal or family history of colorectal polyps

You have a personal or family history of other types of cancer

You have been diagnosed with colorectal cancer at a young age (<50)

You have first-degree relatives who have been diagnosed with colorectal cancer at a young age (<50)

You have been diagnosed with multiple primary cancers

 

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)

 

Recommendations by professional bodies

The National Comprehensive Cancer Network (NCCN) recommends germline multigene panel testing for all individuals <50 years old who are diagnosed with colorectal cancer. Individuals who have a family history of colorectal cancer should also be considered for testing.  (NCCN, 2022)

 

References and more information: 

All the above information was taken from the National Cancer Institute, WHO, Colon Cancer Foundation

Ferlay J, Ervik M, Lam F, Colombet M, Mery L, Piñeros M, et al. Global Cancer Observatory: Cancer Today. Lyon: International Agency for Research on Cancer; 2020

GENES

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