Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer.

• Tác giả: Lin Cong, Changyuan Guo, Yansong Huang, Ziqi Jia, Yiwen Jiang, Jiayi Li, Jiaqi Liu, Chengzhu Ou, Pengming Pu, Tongxuan Shang, Xiang Wang, Wen Wen, Nan Wu, Hengyi Xu, Sen Zhao
• Ngôn ngữ: eng
• Thông tin xuất bản: United States : Genetics in medicine open , 2025
• Bộ sưu tập: NCBI
• ID: 237660

Tóm tắt

PURPOSE: To understand the broader genetic landscape of male breast cancer (MBC), focusing on the utility of genome sequencing (GS) beyond METHODS: Twenty-four patients with MBC underwent a multistep genetic analysis. Initial screening targeted RESULTS: The GS analysis unveiled previously unrecognized pathogenic/likely pathogenic germline variants in CONCLUSION: Our findings extended the MBC genetic spectrum beyond BRCA1/2 and highlighted the intricate interplay of monogenic and polygenic predispositions, presenting a comprehensive MBC genomic profile.