Genetic landscape of breast cancer and mutation tracking with circulating tumor DNA in Chinese women

作者：Yinghao Wang, Lizhi Lin, Linhong Li, Jialiang Wen, Yili Chi, Rutian Hao, Xuanxuan Dai, Yizuo Chen, Du-Ping Huang, Yili Zhou, Jie You, Zhiqiang Ye, Hao Chen, Lingli Jin, Danxiang Chen, Fan Yang, Erjie Xia, Xueyan Ma, Fengyu Guo, Yunguang Tong, Min Zheng, Ouchen Wang · 发表于：Aging · 年份：2021 · DOI：10.18632/aging.202888 · 被引用次数：17 · 研究领域：Cancer Genomics and Diagnostics、Genetic factors in colorectal cancer、BRCA gene mutations in cancer

copy number variations in tissue/formalin-fixed and paraffin-embedded samples was 95% with 86% sensitivity and 99% specificity. Moreover, mutation numbers varied between different molecular cell-free DNA subtypes, with the basal-like patients harboring a higher number of variants than the luminal patients. Furthermore, ratio changes in the max ctDNA allele fraction highly correlated with clinical response measurements, including cancer relapse and metastasis. Our data demonstrate that ctDNA characterization using the Omi-Seq platform can extend the capacity of personalized clinical cancer management.