SCIENTIFIC BACKGROUND

APC, BMPR1A, MUTYH, POLD1, POLE, SMAD4,STK11

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Scientific Background

Hereditary polyposis colorectal cancer syndrome is a type of inherited colorectal cancer that is characterised by the presence of polyps. Different types of conditions, such as Familial Adenomatous Polyposis (FAP), MUTYH-associated polyposis syndrome and others, can be associated with the presence of polyps. These conditions are caused by germline gene mutations. They result is the formation of foreign masses in the gastrointestinal tract, which can increase the risk of developing colorectal cancer in the future.

 

PreSENTIA hereditary Colorectal Polyposis 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

You have a first degree relative diagnosed with FAP

You have >10 cumulative colorectal adenomas or colorectal adenomas in combination with extracolonic features associated with FAP

 

How many genes are tested in this panel?

7 genes

 

How many hereditary cancer syndromes are associated with this panel?

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

Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)

Juvenile Polyposis syndrome (SMAD4, BMPR1A)

• MUTYH-associated polyposis syndrome (MUTYH)

• Peutz-Jeghers syndrome (STK11)

• Polymerase proofreading associated syndrome (POLD1, POLE)

 

Recommendations by professional bodies

ESMO recommends that patients with multiple colorectal adenomas (>10) should be considered for germline genetic testing panel. (Stjepanovic et al., 2019).

 

References and more information: 

Kanth P, Grimmett J, Champine M, Burt R, Samadder NJ. Hereditary Colorectal Polyposis and Cancer Syndromes: A Primer on Diagnosis and Management. Am J Gastroenterol. 2017 Oct;112(10):1509-1525. doi: 10.1038/ajg.2017.212. Epub 2017 Aug 8. PMID: 28786406.

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, BMPR1A, MUTYH, POLD1, POLE, SMAD4,STK11
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