DiagMMR, the carrier test to detect inherited MMR deficiency

Minna Nyström1, Minttu Kansikas2,1

1University of Helsinki, Helsinki, Finland. 2LS CancerDiag Ltd, Helsinki, Finland

Abstract

Inherited defects affecting the ability to repair DNA through DNA mismatch repair (MMR) is characteristic to a cancer syndrome known as Lynch syndrome (LS), which is the most common single cause of hereditary colorectal cancer. Lynch syndrome is inherited with 50% probability in affected families and inherited mutations are estimated to be carried by up to 1/2791 of the world population. Thousands of different genetic changes have been found to affect the MMR mechanism, however, not all genetic changes are disease-causing and many are difficult to detect.

DiagMMR is a test to detect Lynch syndrome mutation carriers who have inherited repair deficiency in MMR proteins MSH2 and MSH6, enabling preventive care and thus helping save lives. The test is carried out on a small skin biopsy taken from the arm of an individual. Cells from the biopsy are cultured in standard laboratory facilities, where also the DNA repair function is tested. The DiagMMR method quantifies the DNA repair mechanisms ability to function at the protein level and can be done on healthy, unaffected tissue. While DiagMMR as a single test based diagnosis does not require tumour phenotype or genotype derived information, it may be used to complement an array of cancer reactive tests; by measuring the repair function to reveal the functional significance of an already found alteration. As key stakeholders in patient care, the ongoing collaboration with healthcare professionals and hospitals is central to delivering the DiagMMR® test to patient use.

Abstract references

  1. Win, AK et al. Cancer Epidemiol Biomarkers Prev. 2017, 26: 404-412.
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