Recurrent and pathological gene fusions in breast cancer: current advances in genomic discovery and clinical implications

Gene fusions have long been considered principally as the oncogenic events of hematologic malignancies, but have recently gained wide attention in solid tumors due to several milestone discoveries and the advancement of deep sequencing technologies. With the progress in deep sequencing studies of br...

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Bibliographic Details
Published in:Breast cancer research and treatment Vol. 158; no. 2; pp. 219 - 232
Main Authors: Veeraraghavan, Jamunarani, Ma, Jiacheng, Hu, Yiheng, Wang, Xiao-Song
Format: Journal Article Book Review
Language:English
Published: New York Springer US 01.07.2016
Springer
Springer Nature B.V
Subjects:
Breast cancer
Breast Neoplasms - genetics
Breast Neoplasms - pathology
Cancer genetics
Cancer research
Cancer therapies
Clinical trials
Discovery and exploration
Female
Gene Expression Profiling
Gene Fusion
Genes
Genetic aspects
Genetic Predisposition to Disease
Genetic research
Genomes
Genomics
Genomics - methods
High-Throughput Nucleotide Sequencing
Humans
Medicine
Medicine & Public Health
Oncology
Pathology
Recurrence (Disease)
Review
Sequence Analysis, DNA
Breast cancer
Tumorigenesis
Next-generation sequencing
Recurrent gene fusions
Bioinformatics
Genomics
ISSN:0167-6806, 1573-7217
Online Access:Get full text
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Summary:Gene fusions have long been considered principally as the oncogenic events of hematologic malignancies, but have recently gained wide attention in solid tumors due to several milestone discoveries and the advancement of deep sequencing technologies. With the progress in deep sequencing studies of breast cancer transcriptomes and genomes, the discovery of recurrent and pathological gene fusions in breast cancer is on the focus. Recently, driven by new deep sequencing studies, several recurrent or pathological gene fusions have been identified in breast cancer, including ESR1 - CCDC170 , SEC16A - NOTCH1 , SEC22B - NOTCH2 , and ESR1 - YAP1 etc . More important, most of these gene fusions are preferentially identified in the more aggressive breast cancers, such as luminal B, basal-like, or endocrine-resistant breast cancer, suggesting recurrent gene fusions as additional key driver events in these tumors other than the known drivers such as the estrogen receptor. In this paper, we have comprehensively summarized the newly identified recurrent or pathological gene fusion events in breast cancer, reviewed the contributions of new genomic and deep sequencing technologies to new fusion discovery and the integrative bioinformatics tools to analyze these data, highlighted the biological relevance and clinical implications of these fusion discoveries, and discussed future directions of gene fusion research in breast cancer.
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ISSN:0167-6806
1573-7217
DOI:10.1007/s10549-016-3876-y