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Database of Chromosome Aberrations and Gene Fusions in Cancer

The Database of Chromosome Aberrations and Gene Fusions in Cancer, established in 1980, is an attempt to register systematically all published cytogenetic aberrations reported in cancer, including patient and tumor characteristics, gene fusions identified by cytogenetics or massively parallel sequencing, and studies pertaining to the clinical relevance of cytogenetic aberrations and/or gene rearrangements. The information is freely available ( as an integrated component of the Cancer Genomics Cloud (CGC) – a flexible and powerful platform for cancer genomics research initiated and sponsored by the US National Cancer Institute (NCI).

The database represents a unique international resource that enables clinicians to quickly find relevant information on cytogenetic aberrations and gene fusions in cancer and relate the findings to clinical data, in particular the diagnostic and prognostic significance of specific cytogenetic/genomic changes. The continuously updated material also makes it possible to address scientific questions related to the mechanisms through which chromosomal/genomic changes participate in the carcinogenic process by elucidating why, how and when chromosome abnormalities are formed, the chromosomal anatomy of cytogenetic changes and genes involved in fusions, the role chromosome aberrations play in the formation of fusion genes, and the mechanisms by which gene fusions exert their effects.

Recent publications

Mandahl N, Mertens F, Mitelman F. Gene amplification in neoplasia: A cytogenetic survey of 80,131 cases. Genes Chromosomes Cancer 63:e23214, 2024.

Wang J, Zheng J, Lee EE, Aguilar B, Phan J, Abdilleh K, Taylor RC, Longabaugh W, Johansson B, Mertens F, Mitelman F, Pot D, LaFramboise T. A cloud-based resource for genome coordinate-based exploration and large-scale analysis of chromosome aberrations and gene fusions in cancer. Genes Chromosomes Cancer 62:441-448, 2023.

Mandahl N, Mitelman F. Giemsa‐negative chromosome bands preferentially recombine in cancer‐associated translocations and gene fusions. Genes Chromosomes Cancer 62:61-74, 2023.

Lilljebjörn H, Orsmark-Pietras C, Mitelman F, Hagström-Andersson A, Fioretos T. Transcriptomics paving the way for improved diagnostics and precision medicine of acute leukemia. Semin Cancer Biol 84:40-49, 2022

Heim S, Mitelman F. Abnormal Chromosomes. The Past, Present, and Future of Cancer Cytogenetics, 208 pp, Wiley Blackwell, Oxford, 2022

Bruford EA, Antonescu CR, Carroll AJ, Chinnaiyan A, Cree IA, Cross NCP, Dalgleish R, Gale RP, Harrison CJ, Hastings RJ, Huret J-L, Johansson B, Le Beau M, Mecucci C, Mertens F, Verhaak R, Mitelman F. HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions. Leukemia 35:3040-3043, 2021

Persson H, Sökilde R, Häkkinen I, Vallon-Christersson I, Mitelman F, Borg Å, Höglund M, Rovira C. Analysis of fusion transcripts indicates widespread deregulation of snoRNAs and their host genes in breast cancer. Int J Cancer 146:3343-3353, 2020

Mitelman F, Johansson B, Mertens F, Schyman T, Mandahl N. Cancer chromosome breakpoints cluster in gene-rich genomic regions. Genes Chromosomes Cancer 58:149-154, 2019

Johansson B, Mertens F, Schyman T, Björk J, Mandahl N, Mitelman F. Most gene fusions in cancer are stochastic events. Genes Chromosomes Cancer 58: 607-611, 2019.

Mitelman F, Johansson B, Mertens F, Schyman T, Mandahl N. Cancer chromosome breakpoints cluster in gene-rich genomic regions. Genes Chromosomes Cancer 58:149-154, 2019.

Mertens F, Antonescu CR, Mitelman F: Gene fusions in soft tissue tumors: recurrent and overlapping pathogenetic themes. Genes Chromosomes Cancer 55:291-310, 2016.

Mertens F, Johansson B, Fioretos T, Mitelman F. The emerging complexity of gene fusions in cancer. Nature Rev Cancer 15:371-381, 2015.

Heim S, Mitelman F (Eds). Cancer Cytogenetics. Chromosomal and Molecular Genetic Aberrations of Tumor Cells, Fourth Edition. Wiley Blackwell, Oxford, 632 pp, 2015.




Felix Mitelman
Professor. MD, PhD

Department of Laboratory Medicine
Division of Clinical Genetics
SE-221 84 Lund

Phone: +46 46 222 69 94

Email: Felix [dot] Mitelman [at] med [dot] lu [dot] se (Felix[dot]Mitelman[at]med[dot]lu[dot]se)


Research group members
bertil [dot] johansson [at] med [dot] lu [dot] se (Bertil Johansson), professor
elaine [dot] lee [at] isbscience [dot] org (Elaine Lee), programmer
nils [dot] mandahl [at] med [dot] lu [dot] se (Nils Mandahl), professor
fredrik [dot] mertens [at] med [dot] lu [dot] se (Fredrik Mertens), professor
jeppe [dot] thanning [at] gmail [dot] com (Jeppe Thaning), programmer
anette [dot] welin [at] med [dot] lu [dot] se (Anette Welin), administrator