Multigene clinical mutational profiling of breast carcinoma using next-generation sequencing

Area of Science:

• Oncology
• Genomics
• Molecular Diagnostics

Background:

• Next-generation sequencing (NGS) enables comprehensive multigene mutational profiling.
• Clinical molecular diagnostics increasingly utilizes massively parallel sequencing.

Purpose of the Study:

• To analyze mutations in 46 cancer-associated genes in breast carcinoma using NGS.
• To identify actionable mutations for targeted therapy in breast cancer patients.

Main Methods:

• Analyzed 415 breast carcinoma samples from 354 patients.
• Utilized NGS to profile known hotspots in 46 cancer-causing genes.
• Stratified mutations by clinical therapeutic groups (ER/PR/HER2 status).

Main Results:

• Detected 281 somatic mutations in 62.1% of patients.
• TP53 (38.8%) and PIK3CA (31.7%) were the most frequent mutations.
• Distinct mutational profiles were observed across ER/PR/HER2 subtypes, with higher TP53 in triple-negative and PIK3CA in ER/PR+HER2- tumors.

Conclusions:

• Breast cancers harbor actionable mutations potentially targetable with therapeutics.
• NGS-based mutational profiling provides valuable data for guiding precision cancer therapy.