Genetic mosaicism is related to aging and cancer

Mosaicism is a source of genetic variation much more common than supposed and that may also be present in apparently healthy individuals. Now researchers from the Department of Experimental and Health (CEXS) of UPF (Pompeu Fabra University) and the Centre for Research in Environmental Epidemiology (CREAL) have published a study that shows that the presence of these cell populations in mosaic is correlated with aging and cancer.

The mosaicism is the coexistence in the same individual at least two types of cells with different genetic makeup. This alteration, when it affects certain regions of the chromosome associated with the occurrence of some diseases.

The study was conducted in a large cohort of patients, with 31,717 cases and 26,136 cancer-free controls of this condition, all from 13 international studies of complete genome association study.

It should be noted that individuals diagnosed with leukemia had a higher incidence of mosaicism, even in samples collected one year before diagnosis, compared to individuals free of cancer.

A total of 60 institutions involved researchers from 9 different countries. The work was coordinated by Drs. Luis A. Perez-Jurado, head of the Genetics Unit, Department of Experimental Sciences and Health (CEXS) from UPF and Stephen J. Chanock, National Cancer Institute of USA. From CREAL participated Manolis Kogevinas and Juan R. Gonzalez who developed the "software" which has been instrumental in the study (/jrgonzalez/software.htm), together with several international research centres.

Article: “Detectable clonal mosaicism and its relationship to aging and cancer”. Kevin B Jacobs, Meredith Yeage, et altri. Nature Genetics's.

Treballs anteriors de referència:
(1);Kevin B Jacobs, Meredith Yeager,et altri. Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome", American Journal of Human Genetics , vol. 87, juliol. doi:10.1016/j.ajhg.2010.06.002
(2);Gonzalez JR, Rodríguez-Santiago B, Caceres A, Pique-Regi R, Rothman N, Chanock SJ, Armengol L, Perez-Jurado L. A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data. BMC Bioinformatics 2011, 12:166. doi: 10.1186/1471-2105-12-166