title: Recurrent and pathological gene fusions in breast cancer: current advances in genomic discovery and clinical implications.
abstract: 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.
authors.affiliation: Lester & Sue Smith Breast Center, Baylor College of Medicine, Houston, TX, 77030, USA.|Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX, 77030, USA.|Department of Medicine, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: Jamunarani
authors.initials: J
authors.lastname: Veeraraghavan
authors.affiliation: Lester & Sue Smith Breast Center, Baylor College of Medicine, Houston, TX, 77030, USA.|Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX, 77030, USA.|Department of Medicine, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: Jiacheng
authors.initials: J
authors.lastname: Ma
authors.affiliation: Lester & Sue Smith Breast Center, Baylor College of Medicine, Houston, TX, 77030, USA.|Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX, 77030, USA.|Department of Medicine, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: Yiheng
authors.initials: Y
authors.lastname: Hu
authors.affiliation: Lester & Sue Smith Breast Center, Baylor College of Medicine, Houston, TX, 77030, USA. wangx13@pitt.edu.|Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX, 77030, USA. wangx13@pitt.edu.|Department of Medicine, Baylor College of Medicine, Houston, TX, 77030, USA. wangx13@pitt.edu.|Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, 77030, USA. wangx13@pitt.edu.|University of Pittsburgh Cancer Institute, University of Pittsburgh, Pittsburgh, PA, 15232, USA. wangx13@pitt.edu.|Department of Pathology, University of Pittsburgh, Pittsburgh, PA, 15232, USA. wangx13@pitt.edu.|Hillman Cancer Center, Research Pavilion, University of Pittsburgh Cancer Institute, 5117 Centre Avenue, Room G.5a, Pittsburgh, PA, 15213, USA. wangx13@pitt.edu.
authors.forename: Xiao-Song
authors.initials: XS
authors.lastname: Wang
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics / Q000473:pathology*; D005260:Female; D020869:Gene Expression Profiling; D050939:Gene Fusion; D020022:Genetic Predisposition to Disease; D023281:Genomics / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D017422:Sequence Analysis, DNA
keywords: Bioinformatics; Breast cancer; Genomics; Next-generation sequencing; Recurrent gene fusions; Tumorigenesis