Research progress on pathogenic germline mutations in malignant tumors.
10.3760/cma.j.cn511374-20240419-00244
- Author:
Fang WU
1
,
2
;
Xiaowen WANG
;
Hongmei ZHANG
Author Information
1. First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, National Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion, Tianjin 300380, China. xiatian76@
2. com.
- Publication Type:English Abstract
- MeSH:
Humans;
Germ-Line Mutation;
Neoplasms/genetics*;
Female;
Genetic Predisposition to Disease
- From:
Chinese Journal of Medical Genetics
2024;41(12):1508-1515
- CountryChina
- Language:Chinese
-
Abstract:
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.
