SCIENTIFIC BACKGROUND

EPCAM, MLH1, MSH2, MSH6, PMS2

Category:

Scientific Background

Hereditary non-polyposis colorectal cancer (HNPCC), is an autosomal dominant disorder which can run in families and accounts for about 1-4% of colorectal cancer cases. Patients with HNPCC usually do not show any polyps or if they show, they will be in small numbers. HNPCC was found to be associated with germline mutations in the DNA mismatch repair (MMR*) genes which can cause mistakes in the repair of the DNA during replication, leading to uncontrolled growth. Another gene that was found to cause HNPCC is EPCAM. Large deletions in this gene can lead to reduction in MSH2 expression resulting in the incorrect repair of the DNA and development of HNPCC.

 

PreSENTIA hereditary Colorectal Non-Polyposis 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.

 

*MMR genes: MLH1, MSH2, MSH6 and PMS2

 

Who is this test for?

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

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

You have been diagnosed with Lynch syndrome

You have been diagnosed with Lynch syndrome-related cancers†, regardless of age

You have relatives with any Lynch-associated cancers†

You have one or more family members who had cancer before age 50.

 

How many genes are tested in this panel?

5 genes

 

How many hereditary cancer syndromes are associated with this panel?

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

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

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

 

References and more information: 

American cancer society

Duraturo F, Liccardo R, De Rosa M, Izzo P. Genetics, diagnosis and treatment of Lynch syndrome: Old lessons and current challenges. Oncol Lett. 2019 Mar;17(3):3048-3054. doi: 10.3892/ol.2019.9945. Epub 2019 Jan 18. PMID: 30867733; PMCID: PMC6396136.

Edwards, P. and Monahan, K.J., 2022. Diagnosis and management of Lynch syndrome. Frontline Gastroenterology, 13(e1), pp.e80-e87.

Moller P, Seppala TT, Bernstein I, et al. Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the prospective Lynch syndrome database. Gut 2018; 67: 1306– 1316.

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.

GENES

EPCAM, MLH1, MSH2, MSH6, PMS2
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