Research progress on pathogenic germline mutations in malignant tumors

VernacularTitle:恶性肿瘤中致病性胚系突变的研究进展
Author: Fang WU ¹ ; Xiaowen WANG ¹ ; Hongmei ZHANG ¹
Author Information

1. 空军军医大学第一附属医院肿瘤科，西安　710032
Publication Type:Journal Article
Keywords: Malignant tumor; Germline mutation; Homologous recombination repair; Mismatch repair gene
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.