INHERITANCE OF GENE MUTATIONS IN EARLY-ONSET COLORECTAL CANCER PATIENTS

Hồ Quốc Chương1, Trần Quang Khang2, Đỗ Đức Minh1, Hoàng Anh Vũ1,2,
1 Center For Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City
2 Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City

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Abstract

Aim: Determining the carrier status of gene mutations in relatives of colorectal cancer (CRC) patients is of great importance in choosing a screening plan for early detection and cancer prevention. This study aims to describe inheritance of gene mutations in CRC in Vietnamese patients. Materials and methods: This is a cross-sectional descriptive study. A total of 21 peripheral blood samples were recieved from relatives of 7 patients with germline mutations, and then performed Sanger sequencing to document the genetic characteristics. Results: CRC caused by germline mutations occurs at a rate of 9.9% (10/101). In which, three families had inherited gene mutations in MLH1, MSH6, and PMS2. Conclusion: This is the first study in Vietnam to describe inheritance of germline mutations in CRC.

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References

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