New advances in genetic tests for UM prognostication

Our partners at the Institut Curie have recently published how to further analyze the results from genetic tests performed on UM.

New advances in genetic tests for UM prognostication


Prognostication is term used in medicine to estimate how severe a disease could be. In the setting of UM, “prognostication” is generally used to estimate the chances of a patient developing metastatic disease.

One of the most common mutations that initiates UM devellopemnt occurs in the gene coding for the BRCA1-associated protein (BAP1). The BAP1 gene is mutated in almost 50% of all UM cases and associated with high risk tumours – tumours with high chances of producing metastatic disease; this gene is located on chromosome 3, being one of the many genes “coded” on this chromosome.

Findings from this study showed that patients with uveal melanomas carrying a partial deletion of chromosome 3, in the area where BAP1 is coded, have a poor prognosis compared with patients whose uveal melanomas lack such deletion.

As said by Dr. Rodrigues : “Studies on uveal melanomas…have demonstrated the prognostic value of 8q gain and monosomy 3, but the prognosis of UMs with partial deletion of chromosome 3 remains to be defined…These findings suggest that partial deletion of chromosome 3 encompassing the BAP1 locus is associated with poor prognosis. A cytogenetic classification of UMs could be proposed based on the status of the BAP1 locus instead of the chromosome 3 locus, while also taking chromosome 8q into account”.

To access the full paper click here.