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Published on: April 11, 2016
Next-Generation Sequencing in Breast Cancer Patients: Real-World Data for Precision Medicine
Hyunwoo Lee1, Yoon Ah Cho1, Deok Geun Kim2,3
1Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Purpose:
Breast cancer is one of the most common causes of cancer-related death in females. Numerous drug-targetable biomarkers and predictive biomarkers have been developed. Some researchers have expressed doubts about the need for next-generation sequencing (NGS) studies in daily practice. This study analyzed the results of NGS studies on breast cancer at a single institute and evaluated the real-world applications of NGS data to precision medicine for breast cancer.
Materials And Methods:
We retrospectively collected the results of NGS studies and analyzed the histopathologic features and genetic profiles of patients treated for breast cancer from 2010 to 2021. Seventy cases had data from CancerSCAN, a customized panel of 375 cancer-associated genes, and 110 cases had data from TruSight Oncology 500.
Results:
The most frequently detected single nucleotide variant was the TP53 mutation (123/180, 68.3%), followed by PIK3CA mutations (51/180, 28.3%). Estrogen receptor 1 (ESR1) mutation was detected in 11 patients (6.1%), of whom 10 had hormone receptor-positive, human epidermal growth factor receptor 2-negative breast cancer, and two had no history of prior endocrine therapy. Based on their NGS study results, 13 patients (7.2%) received target therapy. Among them, four patients had a BRCA1 or BRCA2 germline mutation, and nine patients had a PIK3CA mutation.
Conclusion:
NGS can provide information about predictive biomarkers and drug-targetable biomarkers that can enable treatment and participation in clinical trials based on precision medicine. Further studies should be conducted to excavate novel drug-targetable biomarkers and develop additional target therapies.
Insights
Next-generation sequencing (NGS) in breast cancer identifies key mutations like TP53 and PIK3CA, guiding targeted therapies and clinical trial eligibility for precision medicine.
Area of Science:
- Oncology
- Genomics
- Precision Medicine
Background:
- Breast cancer is a leading cause of cancer death in women.
- Advancements in identifying drug-targetable and predictive biomarkers are ongoing.
- The clinical utility of next-generation sequencing (NGS) in routine breast cancer care is under evaluation.
Purpose of the Study:
- To analyze NGS results from breast cancer patients at a single institution.
- To assess the real-world application of NGS data for precision medicine in breast cancer.
Main Methods:
- Retrospective analysis of NGS data from 180 breast cancer patients (2010-2021).
- Utilized CancerSCAN (375 genes) and TruSight Oncology 500 panels.
- Correlated genetic profiles with histopathologic features.
Main Results:
- TP53 mutations were most frequent (68.3%), followed by PIK3CA (28.3%).
- ESR1 mutations occurred in 6.1% of patients, often in hormone receptor-positive, HER2-negative cases.
- 13 patients (7.2%) received targeted therapy based on NGS findings, including BRCA1/2 and PIK3CA mutations.
Conclusions:
- NGS provides crucial information on predictive and drug-targetable biomarkers for breast cancer.
- NGS facilitates precision medicine by enabling targeted treatments and clinical trial enrollment.
- Further research is needed to discover novel biomarkers and develop new targeted therapies.
