CEXS-UPF: The results of exome sequencing of non-invasive bladder cancer are published

CEXS-UPF: The results of exome sequencing of non-invasive bladder cancer are published

News from CEXS-UPF

Bladder cancer is a serious public health problem in many countries, especially in Spain, where 11,200 new cases are recorded each year - one of the highest rates in the world. Most of these tumours have a good prognosis - 70-80% survival five years after diagnosis, and they do not infiltrate the bladder muscle at the time of diagnosis - in about 80% of cases.

However, many tumours present periodic recurrence, i.e. new symptoms of the disease appear with time. This means that the patient must be closely monitoring by cystoscopy, a type of monitoring that affects the patient's quality of life, while involving a significant level of healthcare costs.

Researchers at the Spanish National Cancer Research Centre (CNIO), coordinated by Francisco X. Real, a member of the Department of Experimental and Health Sciences (CEXS) at UPF and the head of Epithelial Carcinogenesis Group at the CNIO, together with Núria Malats, the head of the Genetic and Molecular Epidemiology Group at the CNIO, have carried out the first sequencing of the exome of non-invasive bladder cancer, the most common type of bladder cancer and one of the tumours with the greatest risk of recurrence. The exome is the part of the genome that contains information about protein synthesis. The study was published in Nature Genetics on 13 October and Josep Lloreta, a member of the CEXS, is among the authors.

"We found nine altered genes that had not previously been described in this type of tumour, and of these, we found that STAG2 is inactive in nearly 40% of the least aggressive tumours," said Real, the lead researcher of the study.

More information:
UPF press release

Cristina Balbás-Martínez, Ana Sagrera, Enrique Carrillo-de-Santa-Pau, Julie Earl, Mirari Márquez, Miguel Vazquez, Eleonora Lapi, Francesc Castro-Giner, Sergi Beltran, Mònica Bayés, Alfredo Carrato, Juan C Cigudosa, Orlando Domínguez, Marta Gut, Jesús Herranz, Núria Juanpere, Manolis Kogevinas, Xavier Langa, Elena López-Knowles, José A Lorente, Josep Lloreta, David G Pisano, Laia Richart, Daniel Rico, Rocío N Salgado, Adonina Tardón, Stephen Chanock, Simon Heath, Alfonso Valencia, Ana Losada, Ivo Gut, Núria Malats i Francisco X Real (2013), "Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy", Nature Genetics, 13 d'octubre, doi:10.1038/ng.2799.