DR-054 Using recurrent somatic mutations to provide new insights into mutagenesis in cancer

The changes to the DNA (mutations) found in a tumor are expected to be largely unique to each tumor as there are 3 billion places in the DNA that can be changed. However, in a cancer study with 2,583 participants we observed over a million non-unique mutations. We used characteristics of these mutations and all mutations detected, to classify the tumors into 16 groups that have clinical relevance. We want to refine these classes to gain further insights into the biological processes inducing mutations (‘mutagenesis’), inform on treatment, help in diagnosis, and predict the origin of a metastatic tumor.

Ivo Gut Centro Nacional de Análisis Genómico Spain