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2016 ; 158
(2
): 219-32
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Recurrent and pathological gene fusions in breast cancer: current advances in
genomic discovery and clinical implications
#MMPMID27372070
Veeraraghavan J
; Ma J
; Hu Y
; Wang XS
Breast Cancer Res Treat
2016[Jul]; 158
(2
): 219-32
PMID27372070
show ga
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.