Ontology highlight
ABSTRACT:
SUBMITTER: Hu L
PROVIDER: S-EPMC9023502 | biostudies-literature | 2022 Apr
REPOSITORIES: biostudies-literature
Hu Li L Sun Jie J Li Zhongwu Z Qu Ziwei Z Liu Yan Y Wan Qiting Q Liu Jiaming J Ding Xinyun X Zang Fan F Zhang Juan J Yao Lu L Xu Ye Y Wang Yin Y Xie Yuntao Y
NPJ breast cancer 20220421 1
The prevalence and clinical relevance of pathogenic germline variants in MMR genes have not been investigated in large series of breast cancers. In this study, we screened the germline variants in MMR genes in 8085 consecutive Chinese breast cancer patients, and investigated the MMR/PD-L1 protein expression and tumor mutation burden (TMB) of breast tumors from MMR variant carriers. We found that 15 of 8085 patients (0.19%) carried a pathogenic germline variant in MMR genes. Compared with non-car ...[more]