Comprehensive genomic profiling of breast cancer reveals mutational landscape and the PEEKABOO model: a population-specific assessment tool for predicting germline mutations
Our study establishes a unique germline mutation profile of Chinese breast cancer in a large-scale targeted sequencing cohort. Germline HRR gene mutation status is a potential biomarker for response to neoadjuvant treatment with DNA-damaging chemotherapeutics for HER2-negative breast cancer. The population-specific PEEKABOO model improves the predictive efficiency of germline mutations and represents a clinically applicable tool for risk stratification in Chinese patients.
Authors
- Wei Du (ORCID: https://orcid.org/0000-0003-3622-2265)
- Yaqian Xu (ORCID: https://orcid.org/0000-0003-1247-7239)
- Liu Yang (ORCID: https://orcid.org/0000-0003-3724-2268)
- Houpu Yang (ORCID: https://orcid.org/0000-0001-5098-814X)
- Shu Wang (ORCID: https://orcid.org/0000-0002-8651-4795)
- Yang Yang (ORCID: https://orcid.org/0000-0002-1269-2804)
- Peng Yuan (ORCID: https://orcid.org/0000-0001-6492-0509)
- Miao Liu (ORCID: https://orcid.org/0000-0002-1233-4388)
- Jinbo Wu
- Chaobin Wang (ORCID: https://orcid.org/0000-0002-6783-7038)
- Huan Li (ORCID: https://orcid.org/0000-0003-4302-5120)
- Fei Xie
Institutions
- Peking University (CN)
- Peking University People's Hospital (CN)
Publication Details
- Journal
- Journal of Translational Medicine
- Published
- 2025-11-04
- DOI
- https://doi.org/10.1186/s12967-025-07068-z
- Primary Topic
- Breast Cancer Treatment Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- China Postdoctoral Science Foundation
- Peking University
- Peking University People's Hospital
- National Key Research and Development Program of China