A New Disease-Causing Mutation in Hereditary Tumor Has Been Discovered

Release time:2019-05-09

Lynch syndrome is the most typical hereditary tumor syndrome. Recently, authoritative academic journal Genepublished a research report on disease-causing mutations in the newly found China's Lynch syndrome family. The major discovery was completed by the team lead by Shengwei Ye, director of the Department of Gastrointestinal Surgery, Hubei Provincial Cancer Hospital, with strong support from Genetron Health.

A New Disease-Causing Mutation in Hereditary Tumor Has Been Discovered

Many members of the family have malignant tumors such as colorectal cancer and endometrial cancer. In the genetic susceptibility analysis of the family, scientists used the NGS panel to detect the sample and optimize the data analysis method, which successfully remedied the NGS technology's deficiency in detecting large gene deletions. It was found that the cause of the disease was the abnormal deletion of large fragments of the MSH6 gene. This new pathogenic mutation form of the MSH6 gene has not been included in the International Society for Gastrointestinal Hereditary Tumors (InSiGHT) database. The optimized detection and analysis methods and results have also been verified by MLPA (Multiple Linker Probe Amplification Technology), a gold standard for large gene detection.

A New Disease-Causing Mutation in Hereditary Tumor Has Been Discovered

Figure.1 Spectra of the Chinese Lynch syndrome family carrying the new pathogenic mutation of MSH6 gene

The circles in the map represent women, the squares males; the hollow ones represent healthy family members, whereas the solid ones represent family members who have been affected by illness; the Roman numerals represent generations; the slashes indicate death; and the arrows indicate the first-time known patient (the first member in the family to see the doctor and confirmed disease); Co for colorectal cancer, En for endometrial cancer, the numbers following these abbreviations indicate the age at which the cancer was diagnosed, the number above the symbol indicates the age of death; (+) indicates that test result is positive, that is, carrying a disease-causing mutation, and (-) indicates that the member’s test result is negative, that is, not carrying a disease-causing mutation.

For members who are already ill, the results can be used as a basis for clinical diagnosis and prognosis evaluation to assist doctors in the precise selection of treatment regimes; for healthy members carrying pathogenic mutations, according to the results, the corresponding tumor risk can be identified and screening & interventions measures can be adopted to prevent tumors based on the testing results, in this way, early prevention, diagnosis and early treatment can be realized to minimize the harm caused by genetic syndrome.

Let's go back the history and review what is behind these gratifying research results. From the identification of correlation between Lynch syndrome and MSI (microsatellite instability), the completion of MMR gene cloning, to the development of diploid to haploid technology, first determination of disease-causing mutations in Family G (the earliest family of Lynch syndrome)  to the identification of causes for genetic malignant brain tumors in the recent five-generation consanguineous marriage families in Pakistan, as well as the improved detection and analysis methods in this study and the findings of the disease-causing mutations in this Chinese Lynch family, you shall know how much the testing and analysis methods have contributed to the findings on Chinese Lynch syndrome. (Click to learn more about the story between Genetron Health and Lynch syndrome)

A New Disease-Causing Mutation in Hereditary Tumor Has Been Discovered

Figure.2 Professor Hai Yan, professor at Duke University in the United States, and Co-founder and Chief Scientific Officer of Genetron Health, published diploid to haploid converting technology on academic journal Nature in 2000

Along with the R&D advancement, technical achievements and products have emerged continuously. In line with the belief in promoting early screening of cancer, Genetron Health has teamed up with Beijing Cancer Hospital and Fudan University Shanghai Cancer Center to create a genetic counseling clinic. In the future, it will be more active in cooperation with major hospitals and experts, and promote the construction and implementation of genetic clinical counseling, gradually accumulate data to discover more specific genetic causes in Chinese population. In addition, Genetron Health will spare no effort to promote the spreading of knowledge on hereditary tumors with associations and experts, aiming at tackling hereditary tumors with better prevention and control in China.

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