AUTHOR=Zeng Bing , Huang Peide , Du Peina , Sun Xiaohui , Huang Xuanlin , Fang Xiaodong , Li Lin TITLE=Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer JOURNAL=Frontiers in Oncology VOLUME=Volume 11 - 2021 YEAR=2021 URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2021.637431 DOI=10.3389/fonc.2021.637431 ISSN=2234-943X ABSTRACT=
Esophageal squamous cell cancer (ESCC) is the eighth most common cancer around the world. Several reports have focused on somatic mutations and common germline mutations in ESCC. However, the contributions of pathogenic germline alterations in cancer susceptibility genes (CSGs), highly frequently mutated CSGs, and pathogenically mutated CSG-related pathways in ESCC remain unclear. We obtained data on 571 ESCC cases from public databases and East Asian from the 1000 Genomes Project database and the China Metabolic Analytics Project database to characterize pathogenic mutations. We detected 157 mutations in 75 CSGs, accounting for 25.0% (143/571) of ESCC cases. Six genes had more than five mutations: