2022.05.17

Seasun Biomaterials, a company specializing in genome analysis, announced on the 10th that it will complete the development of a screening test for the high-risk group of Lynch syndrome, which was promoted by the Ministry of Trade, Industry and Energy's 'Post-Genome Multi-Business Genome Project', and start building a screening system.

Lynch Syndrome is an autosomal dominantly inherited disease, which is known to be caused by mutations in DNA mismatch correction (MMR) genes, such as MLH1, MSH2, MSH6, and PMS2, that play a role in correcting errors in DNA replication. have. MMR gene mutations cause microsatellite instavility associated with various cancers.

People with this syndrome have an up to 82% chance of developing cancer, and can be up to 40 times higher than those without. In particular, the probability of developing secondary cancer within 15 years of initial cancer diagnosis is 50% or more, which is 25 times higher than that of normal people. Because of these characteristics, early screening of Lynch syndrome patients is expected to play an important role in early diagnosis and preventive response of cancer.

Seasun Bio developed an algorithm to predict the risk of Lynch syndrome for three years from May 2019 with a total of 1.2 billion won in government subsidies, and a method to select high-risk groups by evaluating the DNA methylation level, a barometer of epigenetic mutation.

The new Lynch Syndrome risk prediction is based on an integrated analysis of clinical indicators such as the existing MMR test, microsatellite instability (MSI) test, cancer-specific epigenetic mutated methylation biomarker, and family history to select the low-risk, medium-risk group for Lynch syndrome. Divided into high risk group and high risk group.

If a cancer patient such as colorectal cancer, endometrial cancer, stomach cancer, or ovarian cancer is diagnosed as a high-risk group for Lynch syndrome, cancer patients are recommended to proceed with a detailed diagnosis for other carcinomas, and the patient's family is recommended to undergo a cancer diagnostic test. If it is predicted as a low-risk group, continuous monitoring and periodic cancer management are recommended through epigenetic biomarker-based follow-up tests.

In addition, through a questionnaire, the subjects of the health checkup are first classified into the suspected Lynch syndrome group and the normal group, and in the case of the suspected group, information is provided to enable early treatment through early diagnosis of cancer.

In the United States, Lynch syndrome occurs in 1 out of 297 people, and statistics show that 95% of them do not know they have Lynch syndrome. In Korea, the incidence of colorectal cancer and endometrial cancer in Lynch syndrome patients is estimated to be 15-40% (82% and 71% in the United States, respectively). Follow-up monitoring for early diagnosis of Lynch syndrome and prevention of egg development is expected to be a cost-effective medical tool.

Park Hee-kyung, CEO of Seasun Bio, said, “We will expand our business of predicting disease risk, including early diagnosis of diseases, starting with Lynch syndrome.”

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http://www.healthinnews.co.kr/news/articleView.html?idxno=29862
https://www.khan.co.kr/national/health-welfare/article/202205110829001