Washington: A new study has identified new genetic pathways and new genes involved in bladder cancer.
Researchers at the Spanish National Cancer Research Centre (CNIO), coordinated by Francisco X. Real , head of the Epithelial Carcinogenesis Group and Nuria Malats, head of the Genetic and Molecular Epidemiology Group, have carried out the first exome sequencing for non-infiltrating bladder cancer, the most frequent type of bladder cancer and the one with the highest risk of recurrence (the exome is the part of the genome that contains protein synthesis information).
The results reveal new genetic pathways involved in the disease, like cellular division and DNA repair, as well as new genes - not previously described - that might be crucial for understanding its origin and evolution.
The work consisted of analysing the exome from 17 patients diagnosed with bladder cancer and subsequently validating the data via the study of a specific group of genes in 60 additional patients.
Real said that they found up to 9 altered genes that hadn't been described before in this type of tumour, and of these we found that STAG2 was inactive in almost 40 percent of the least aggressive tumours.
He said that some of these genes are involved in previously undescribed genetic pathways in bladder cancer, like cell division and DNA repair; also, we confirmed and extended other genetic pathways that had previously been described in this cancer type, such as chromatin remodelling.