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Comprehensive molecular profiling broadens treatment options for breast cancer patients
- Source :
- Cancer Medicine, Cancer Medicine, Vol 10, Iss 2, Pp 529-539 (2021)
- Publication Year :
- 2020
- Publisher :
- Wiley, 2020.
-
Abstract
- Precision oncology with next generation sequencing (NGS) using tumor tissue with or without blood has begun in Japan. Tumor molecular profiling tests are available, including the OncoGuide™ NCC Oncopanel System and FoundationOne® CDx (F1CDx). Our purpose was to identify potentially actionable genetic alterations in breast cancer with this comprehensive tumor profiling test. We enrolled 115 patients with pathologically diagnosed advanced or metastatic breast cancer. Comprehensive tumor genomic profiling, microsatellite instability, and tumor mutational burden (TMB) were determined using F1CDx. Testing was successful in 109/115 cases (94.8%). Clinically actionable alterations were identified in 76% of advanced breast cancer patients. The most frequent short variants were in TP53 (48.6%), PIK3CA (38.5%), GATA3 (11.0%), PTEN (11.0%), and BRCA1 (10.1%), and structural variants were in ERBB2 (24.8%), MYC (21.1%), RAD21 (21.1%), CCND1 (11.9%), FGF19 (10.1%), and PTEN (10.1%). Regarding human epidermal growth factor receptor (HER)2 status, 106/109 samples (97.2%) were concordant between F1CDx and HER2 testing with immunohistochemistry/fluorescence in situ hybridization. However, ERBB2 amplification was newly detected in four samples and ERBB2 mutations were detected in five HER2‐negative breast cancer samples. Oncogenic BRCA mutations were found in three samples with F1CDx among 27 germline testing‐negative samples. The mean TMB in all samples was 6.28 mut/Mb and tended to be higher in luminal B and triple‐negative breast cancer (mean = 8.1 and 5.9 mut/Mb, respectively) compared with other subtypes. In conclusion, we established a system for precision oncology and obtained preliminary data with NGS as the first step. The information in this clinical sequencing panel will help guide the development of new treatments for breast cancer patients.<br />Precision oncology with next generation sequencing (NGS) using tumor tissue with/without blood has begun in Japan. Our purpose was to identify potentially actionable genetic alterations in breast cancer with the comprehensive tumor profiling test, FoundationOne® CDx. Clinically actionable alterations were identified in 76% of advanced breast cancer patients. We have established a system for precision oncology and obtained preliminary data with NGS as the first step.
- Subjects :
- 0301 basic medicine
Oncology
Cancer Research
Receptor, ErbB-2
Germline
0302 clinical medicine
Antineoplastic Combined Chemotherapy Protocols
Molecular Targeted Therapy
Precision Medicine
ERBB2
skin and connective tissue diseases
Original Research
next generation sequencing
Aged, 80 and over
medicine.diagnostic_test
biology
GATA3
High-Throughput Nucleotide Sequencing
Middle Aged
lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens
Prognosis
Metastatic breast cancer
precision oncology
030220 oncology & carcinogenesis
Immunohistochemistry
Female
Adult
medicine.medical_specialty
tumor mutational burden
Breast Neoplasms
lcsh:RC254-282
Decision Support Techniques
Young Adult
03 medical and health sciences
breast cancer
Breast cancer
Internal medicine
Biomarkers, Tumor
medicine
Humans
PTEN
Radiology, Nuclear Medicine and imaging
Aged
Retrospective Studies
business.industry
Gene Expression Profiling
Clinical Cancer Research
Microsatellite instability
medicine.disease
030104 developmental biology
Mutation
biology.protein
business
Follow-Up Studies
Fluorescence in situ hybridization
Subjects
Details
- ISSN :
- 20457634
- Volume :
- 10
- Database :
- OpenAIRE
- Journal :
- Cancer Medicine
- Accession number :
- edsair.doi.dedup.....3efd2960c67dbee6db3e9a898a598e4d