Article Sidebar

PDF
Date Published: 23/09/2022
Abstract Views: 333
Views PDF: 283
DOI: https://doi.org/10.51298/vmj.v518i1.3370
Issue
Vol. 518 No. 1 (2022)
Section
Các bài báo
How to Cite
Quốc Chương, H. ., Quang Khang, T. ., Đức Minh, Đỗ ., & Anh Vũ, H. . (2022). INHERITANCE OF GENE MUTATIONS IN EARLY-ONSET COLORECTAL CANCER PATIENTS. Vietnam Medical Journal, 518(1). https://doi.org/10.51298/vmj.v518i1.3370

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

Main Article Content

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.

Article Details

Keywords

germline mutation, early-onset, colorectal cancer

References

1. Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, Bray F (2021). Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA: A Cancer Journal for Clinicians.
2. Kastrinos, F., & Syngal, S. (2011). Inherited colorectal cancer syndromes. Cancer journal (Sudbury, Mass.), 17(6), 405–415
3. Stoffel, E. M., Mangu, P. B., Gruber, S. B., Hamilton, S. R., Kalady, M. F., Lau, M. W. Y., ... & Limburg, P. J. (2015). Hereditary colorectal cancer syndromes: American society of clinical oncology clinical practice guideline endorsement of the familial risk–colorectal cancer: European society for medical oncology clinical practice guidelines. Journal of clinical oncology, 33(2), 209.
4. Talseth-Palmer, B. A., McPhillips, M., Groombridge, C., Spigelman, A., & Scott, R. J. (2010). MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. Hereditary cancer in clinical practice, 8(1), 1-10.
5. Grover, S., Kastrinos, F., Steyerberg, E. W., Cook, E. F., Dewanwala, A., Burbidge, L. A., ... & Syngal, S. (2012). Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. Jama, 308(5), 485-492.
6. Claes, K., Dahan, K., Tejpar, S., De Paepe, A., Bonduelle, M., Abramowicz, M., ... & Kartheuser, A. (2011). The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP). Acta gastro-enterologica Belgica, 74(3), 421-426.
7. Strafford J. C. (2012). Genetic testing for lynch syndrome, an inherited cancer of the bowel, endometrium, and ovary. Reviews in obstetrics & gynecology, 5(1), 42–49.
8. Monahan, K. J., Bradshaw, N., Dolwani, S., Desouza, B., Dunlop, M. G., East, J. E., ... & Hill, J. (2020). Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer genetics group (UKCGG). Gut, 69(3), 411-444.