DR-277 Somatic mutational signature identification in children with underlying cancer predisposition syndromes

Tumors from children with underlying DNA damage response or DNA repair defects often carry somatic mutational footprints that can aid their identification. Furthermore, relapses or second tumors in these patients may present with specific signatures that arise due to treatment related damage, particularly in DNA-repair deficient tumors. For the detection and analysis of these signatures in childhood tumors, we request the data from the pan-cancer study on metastatic solid tumors (PMID 31748536) that contain repair and therapy associated signatures that will be used to increase power in signature extraction and detailed analysis of mutational signature extraction. 

Roland Kuiper, Prinses Maxima Centrum, the Netherlands