- Human pathology

Home > A. Molecular pathology > cancer genome

cancer genome

Wednesday 8 February 2012


Cancer genomes are complex, carrying thousands of somatic mutations including base substitutions, insertions and deletions, rearrangements, and copy number changes that have been acquired over decades.

Recently, technologies have been introduced that allow generation of high-resolution, comprehensive catalogs of somatic alterations in cancer genomes.

However, analyses of these data sets generally do not indicate the order in which mutations have occurred, or the resulting karyotype.

By using samples with accurate data sets, it is possible to reconstruct relatively complex temporal sequences of rearrangements and provide an assembly of genomic segments into digital karyotypes.

For cancer genes mutated in rearranged regions, this information can provide a chronological examination of the selective events that have taken place.

See also

- cancer genome analysis
- cancer genome interpretation

Open references

- Estimation of rearrangement phylogeny for cancer genomes. Greenman CD, Pleasance ED, Newman S, Yang F, Fu B, Nik-Zainal S, Jones D, Lau KW, Carter N, Edwards PA, Futreal PA, Stratton MR, Campbell PJ. Genome Res. 2012 Feb;22(2):346-61. PMID: 21994251 [Free]