Comprehensive identification and characterization of somatic copy number alterations in triple‑negative breast cancer
| Autor: | Chenxin Hou, Junli Chen, Jinping Liu, Haoyang Cai, Yifeng Ye, Yuqing Zhou, Zaibing Li, Ning Huang, Xiao Zhang |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Oncology Genome instability Cancer Research medicine.medical_specialty chromosome pulverization DNA Copy Number Variations Triple Negative Breast Neoplasms Genome-wide association study Biology 03 medical and health sciences 0302 clinical medicine Breast cancer Internal medicine medicine Humans Triple-negative breast cancer copy number profiling Chromothripsis Breakpoint chromosomal rearrangement breakpoints Articles medicine.disease Molecular medicine 030104 developmental biology 030220 oncology & carcinogenesis Genomic Profile triple-negative breast cancer Female Genome-Wide Association Study |
| Zdroj: | International Journal of Oncology |
| ISSN: | 1791-2423 1019-6439 |
| DOI: | 10.3892/ijo.2019.4950 |
| Popis: | Triple‑negative breast cancer (TNBC) accounts for ~15% of all breast cancer diagnoses each year. Patients with TNBC tend to have a higher risk for early relapse and a worse prognosis. TNBC is characterized by extensive somatic copy number alterations (CNAs). However, the DNA CNA profile of TNBC remains to be extensively investigated. The present study assessed the genomic profile of CNAs in 201 TNBC samples, aiming to identify recurrent CNAs that may drive the pathogenesis of TNBC. In total, 123 regions of significant amplification and deletion were detected using the Genomic Identification of Significant Targets in Cancer algorithm, and potential driver genes for TNBC were identified. A total of 31 samples exhibited signs of chromothripsis and revealed chromosome pulverization hotspot regions. The present study further determined 199 genomic locations that were significantly enriched for breakpoints, which indicated TNBC‑specific genomic instability regions. Unsupervised hierarchical clustering of tumors resulted in three main subgroups that exhibited distinct CNA profiles, which may reveal the heterogeneity of molecular mechanisms in TNBC subgroups. These results will extend the molecular understanding of TNBC and will facilitate the discovery of therapeutic and diagnostic target candidates. |
| Databáze: | OpenAIRE |
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