Cancer genetics and genomics

DEO researchers made seminal discoveries in the field, identifying genetic alterations of pivotal importance for personalized therapies (such as PML-RAR fusion and NPM mutation in leukemia). More recently, their research focus shifted to whole exome and whole genome sequencing-based approaches for the identification of novel genetic alterations and an in-depth description of genetic heterogeneity in tumors.

Cloning and functional characterization of the Acute Promyelocytic Leukaemia 15;17 translocation

Identification and functional characterization of NPM mutations in myeloid leukemias

Cloning of new translocations in hematological tumors (ATK-ALK, MYB-GATA1, ERC1-PDGFRB, FGFR1OP-RET, ABCA13-ITGBL1, BCL6- IGK, NUP98-HOXA9, FGFR-TIF1, ATV6- ABL1)

Identification of mutations of the coagulation pathway in brain metastases

Discovery of the Gabriele-DeVries syndrome, caused by germline mutations in the YY1 oncogene

Identification of molecular mechanisms linking double strand breaks formation and cancer translocations.