» Articles » PMID: 23376639

Fusion Genes and Their Discovery Using High Throughput Sequencing

Overview
Journal Cancer Lett
Specialty Oncology
Date 2013 Feb 5
PMID 23376639
Citations 36
Authors
Affiliations
Soon will be listed here.
Abstract

Fusion genes are hybrid genes that combine parts of two or more original genes. They can form as a result of chromosomal rearrangements or abnormal transcription, and have been shown to act as drivers of malignant transformation and progression in many human cancers. The biological significance of fusion genes together with their specificity to cancer cells has made them into excellent targets for molecular therapy. Fusion genes are also used as diagnostic and prognostic markers to confirm cancer diagnosis and monitor response to molecular therapies. High-throughput sequencing has enabled the systematic discovery of fusion genes in a wide variety of cancer types. In this review, we describe the history of fusion genes in cancer and the ways in which fusion genes form and affect cellular function. We also describe computational methodologies for detecting fusion genes from high-throughput sequencing experiments, and the most common sources of error that lead to false discovery of fusion genes.

Citing Articles

Detection of chimeric alpha-defensin transcripts and peptides in mouse Paneth cells.

Timmermans S, Wallaeys C, De Beul S, Garcia-Gonzales N, Libert C Front Immunol. 2025; 16:1543059.

PMID: 39981239 PMC: 11840258. DOI: 10.3389/fimmu.2025.1543059.


The landscape of fusion transcripts in plants: a new insight into genome complexity.

Chitkara P, Singh A, Gangwar R, Bhardwaj R, Zahra S, Arora S BMC Plant Biol. 2024; 24(1):1162.

PMID: 39627690 PMC: 11616359. DOI: 10.1186/s12870-024-05900-0.


PFusionDB: a comprehensive database of plant-specific fusion transcripts.

Arya A, Arora S, Hamid F, Kumar S 3 Biotech. 2024; 14(11):282.

PMID: 39479298 PMC: 11519250. DOI: 10.1007/s13205-024-04132-1.


Real-World Clinical Utility of Targeted RNA Sequencing in Leukemia Diagnosis and Management.

Kim S, Kim N, Choi Y, Lee S, Choi J, Shin S Cancers (Basel). 2024; 16(13).

PMID: 39001529 PMC: 11240350. DOI: 10.3390/cancers16132467.


Cancer fusion transcripts with human non-coding RNAs.

Mohammad T, Zolotovskaia M, Suntsova M, Buzdin A Front Oncol. 2024; 14:1415801.

PMID: 38919532 PMC: 11196610. DOI: 10.3389/fonc.2024.1415801.


References
1.
Kinsella M, Harismendy O, Nakano M, Frazer K, Bafna V . Sensitive gene fusion detection using ambiguously mapping RNA-Seq read pairs. Bioinformatics. 2011; 27(8):1068-75. PMC: 3072550. DOI: 10.1093/bioinformatics/btr085. View

2.
Westbrook C, Hooberman A, Spino C, Dodge R, Larson R, Davey F . Clinical significance of the BCR-ABL fusion gene in adult acute lymphoblastic leukemia: a Cancer and Leukemia Group B Study (8762). Blood. 1992; 80(12):2983-90. View

3.
Crozat A, Aman P, Mandahl N, Ron D . Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma. Nature. 1993; 363(6430):640-4. DOI: 10.1038/363640a0. View

4.
Lamant L, Dastugue N, Pulford K, Delsol G, Mariame B . A new fusion gene TPM3-ALK in anaplastic large cell lymphoma created by a (1;2)(q25;p23) translocation. Blood. 1999; 93(9):3088-95. View

5.
Tomlins S, Rhodes D, Yu J, Varambally S, Mehra R, Perner S . The role of SPINK1 in ETS rearrangement-negative prostate cancers. Cancer Cell. 2008; 13(6):519-28. PMC: 2732022. DOI: 10.1016/j.ccr.2008.04.016. View