Article
The enhancer rare germline variation rs548071605 contributes to lung cancer development.
Human mutation - 1 Feb 2022
Wang Xuchun, Cheng He, Yang Yin, Zuo Xianglin, Shao Lipei, Yu Dawei, Yang Nan, Zhang Yu, Li Ruilei, Wang Xinyuan, Shen Bin, Wang Jianying, Shi Xiao, Cao Pingping, Sun Luan, Han Xiao, Sun Yujie
Abstract excerpt
Rare germline variations contribute to the missing heritability of human complex diseases including cancers. Given their very low frequency, discovering and testing disease-causing rare germline variations remains challenging. The tag-single nucleotide polymorphism rs17728461 in 22q12.2 is highly associated with lung cancer risk. Here, we identified a functional rare germline variation rs548071605 (A>G) in a...
Topics
Join the communities discussing this publication.