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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.

journal_name

Breast Cancer Res Treat

journal_title

Breast cancer research and treatment

authors

Veeraraghavan J,Ma J,Hu Y,Wang XS

doi

10.1007/s10549-016-3876-y

subject

Has Abstract

pub_date

2016-07-01 00:00:00

pages

219-32

issue

2

eissn

0167-6806

issn

1573-7217

pii

10.1007/s10549-016-3876-y

journal_volume

158

pub_type

杂志文章,评审

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