| PubMed ID |
|
23972288 |
Publish Date |
|
2013 Aug |
| Journal |
|
Genome Biology |
Species |
|
Homo sapiens |
| Disease Type |
|
Breast cancer |
Technology |
|
Next Generation Sequencing |
| Title |
|
BreakTrans: uncovering the genomic architecture of gene fusions |
| Authors |
|
Chen K, Navin NE, Wang Y, Schmidt HK, Wallis JW, Niu B, Fan X, Zhao H, McLellan MD, Hoadley KA, Mardis ER, Ley TJ, Perou CM, Wilson RK, Ding L |
| Affiliation |
|
Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, Texas 77030, USA |
| Chromothripsis Definition |
|
Close-by breakpoints: >=50
Copy number states: 2
Fragments random joining: NA |
| Abstract |
|
Producing gene fusions through genomic structural rearrangements is a major mechanism for tumor evolution. Therefore, accurately detecting gene fusions and the originating rearrangements is of great importance for personalized cancer diagnosis and targeted therapy. We present a tool, BreakTrans, that systematically maps predicted gene fusions to structural rearrangements. Thus, BreakTrans not only validates both types of predictions, but also provides mechanistic interpretations. BreakTrans effectively validates known fusions and discovers novel events in a breast cancer cell line. Applying BreakTrans to 43 breast cancer samples in The Cancer Genome Atlas identifies 90 genomically validated gene fusions. BreakTrans is available at http://bioinformatics.mdanderson.org/main/BreakTrans. |
| |
| Chromothripsis Cases |
| A0YG |
| |
|
|
| |
Case ID: |
A0YG |
| |
Chromosome: | 2 |
| |
Disease type: |
Breast cancer |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
|
| |
Affected Gene: |
Gene List |
| |
|
