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.


How to order


Cancer is a group of genetic diseases that can develop almost anywhere in the body. Many people in the world are affected by cancer every year. Follo...

Read more

Aiming to evaluate the role of chromosomal aneuploidy in pregnancy loss, a 2023 study 35 years in the making evaluated the genomic landscape of first...

Read more

Cancer is a complex genetic disease that affects millions of people in the world. It is one of the leading causes of death worldwide, with about ten ...

Read more

Researchers created a detailed map of the placenta during labor. By studying how maternal and fetal cells communicate, they discovered signals in the...

Read more

A recent paper published in Nature Medicine (1) aimed to identify genes and genomic biomarkers which can better predict outcomes and personalized the...

Read more

In honor of the international day of women and girls in science, we interviewed one of our very own, Dr. Evelina Papaioannou. Dr. Evelina Pa...

Read more

Aneuploidies, such as translocations, whole or segmental chromosomal duplications, and deletions, are examples of chromosomal abnormalities that are ...

Read more

Here you can read the winning essays from the first, annual DNA essay competition on the subject of "How unfolding the DNA code can help with precisi...

Read more

Introduction Our voices are as unique as our fingerprints! Although there are people whose voices might sound alike, there are no two voices exact...

Read more

Not everyone likes winter. For people who do not enjoy the cold weather, or having to put on a thick coat to go outside, a winter can be a source of ...

Read more