Recurrent gene fusions, typically associated with haematological malignancies and rare bone and soft-tissue tumours, have recently been described in common solid tumours. Here we use an integrative analysis of high-throughput long- and short-read transcriptome sequencing of cancer cells to discover novel gene fusions. As a proof of concept, we successfully used integrative transcriptome sequencing to 're-discover' the BCR-ABL1 (ref. 10) gene fusion in a chronic myelogenous leukaemia cell line and the TMPRSS2-ERG gene fusion in a prostate cancer cell line and tissues. Additionally, we nominated, and experimentally validated, novel gene fusions resulting in chimaeric transcripts in cancer cell lines and tumours. Taken together, this study establishes a robust pipeline for the discovery of novel gene chimaeras using high-throughput sequencing, opening up an important class of cancer-related mutations for comprehensive characterization.
%0 Journal Article
%1 Maher:2009:Nature:19136943
%A Maher, C A
%A Kumar-Sinha, C
%A Cao, X
%A Kalyana-Sundaram, S
%A Han, B
%A Jing, X
%A Sam, L
%A Barrette, T
%A Palanisamy, N
%A Chinnaiyan, A M
%D 2009
%J Nature
%K cancer fulltext gene-fusion rna-seq
%N 7234
%P 97-101
%R 10.1038/nature07638
%T Transcriptome sequencing to detect gene fusions in cancer
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2725402/
%V 458
%X Recurrent gene fusions, typically associated with haematological malignancies and rare bone and soft-tissue tumours, have recently been described in common solid tumours. Here we use an integrative analysis of high-throughput long- and short-read transcriptome sequencing of cancer cells to discover novel gene fusions. As a proof of concept, we successfully used integrative transcriptome sequencing to 're-discover' the BCR-ABL1 (ref. 10) gene fusion in a chronic myelogenous leukaemia cell line and the TMPRSS2-ERG gene fusion in a prostate cancer cell line and tissues. Additionally, we nominated, and experimentally validated, novel gene fusions resulting in chimaeric transcripts in cancer cell lines and tumours. Taken together, this study establishes a robust pipeline for the discovery of novel gene chimaeras using high-throughput sequencing, opening up an important class of cancer-related mutations for comprehensive characterization.
@article{Maher:2009:Nature:19136943,
abstract = {Recurrent gene fusions, typically associated with haematological malignancies and rare bone and soft-tissue tumours, have recently been described in common solid tumours. Here we use an integrative analysis of high-throughput long- and short-read transcriptome sequencing of cancer cells to discover novel gene fusions. As a proof of concept, we successfully used integrative transcriptome sequencing to 're-discover' the BCR-ABL1 (ref. 10) gene fusion in a chronic myelogenous leukaemia cell line and the TMPRSS2-ERG gene fusion in a prostate cancer cell line and tissues. Additionally, we nominated, and experimentally validated, novel gene fusions resulting in chimaeric transcripts in cancer cell lines and tumours. Taken together, this study establishes a robust pipeline for the discovery of novel gene chimaeras using high-throughput sequencing, opening up an important class of cancer-related mutations for comprehensive characterization.},
added-at = {2017-05-20T21:25:44.000+0200},
author = {Maher, C A and Kumar-Sinha, C and Cao, X and Kalyana-Sundaram, S and Han, B and Jing, X and Sam, L and Barrette, T and Palanisamy, N and Chinnaiyan, A M},
biburl = {https://www.bibsonomy.org/bibtex/241e9981d4f88ec01e964e85bf3e5e89a/marcsaric},
doi = {10.1038/nature07638},
interhash = {8e21f7407bdf0d7457e9e8a9cb9278a4},
intrahash = {41e9981d4f88ec01e964e85bf3e5e89a},
journal = {Nature},
keywords = {cancer fulltext gene-fusion rna-seq},
month = mar,
number = 7234,
pages = {97-101},
pmid = {19136943},
timestamp = {2017-05-20T21:25:44.000+0200},
title = {Transcriptome sequencing to detect gene fusions in cancer},
url = {https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2725402/},
volume = 458,
year = 2009
}