| Autor: |
Wu F; First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, National Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion, Tianjin 300380, China. xiatian76@163.com., Wang X, Zhang H |
| Jazyk: |
čínština |
| Zdroj: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Dec 10; Vol. 41 (12), pp. 1508-1515. |
| DOI: |
10.3760/cma.j.cn511374-20240419-00244 |
| Abstrakt: |
Malignant tumors are closely related to various genetic and environmental factors. Pathogenic germline gene mutations play a key role in the occurrence and development of some malignant tumors. Some germline mutations can increase the risk of malignant tumors. For example, those with homologous recombination repair gene BRCA1/2 mutations are prone to breast cancer, ovarian cancer, etc., and some germline mutations are associated with genetic syndromes. For instance, 80% of hereditary non-polyposis colon cancers are associated with mutations in mismatch repair genes such as MLH1 and MLH2. In addition, 70% of Li-Fraumeni syndrome patients have harbored germline TP53 mutations. With the development of next-generation sequencing technology, more and more germline gene mutations have been discovered recently, which is of great significance for the prevention, screening, and treatment of tumors. This article has provided a review for common germline mutations, detection methods, and advances in drug therapy. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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