Comprehensive genomic profiling of breast cancer reveals mutational landscape and the PEEKABOO model: a population-specific assessment tool for predicting germline mutations.

ABSTRACT:

Background

Germline mutations in cancer-predisposition genes are critical for clinical risk assessment and therapeutic decisions in breast cancer, yet large-scale genomic studies and population-specific tools remain limited for Asian populations.

Methods

In this prospective clinic-based cohort study, 2700 unselected Chinese breast cancer patients underwent germline sequencing for single nucleotide variations, insertion/deletions, and large genomic rearrangements using a clinically validated 32-gene panel. Multiplex ligation-dependent probe amplification was used for confirmation of copy number variations. A multivariate logistic regression model (PEEKABOO) was developed to predict mutation probability. Therapeutic impact was assessed in 632 patients receiving neoadjuvant the

SUBMITTER: Wu J 

PROVIDER: S-EPMC12584271 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature