Using integrative structural and functional genomics, these new studies have provided the first catalogue of somatic mutations in Burkitt lymphoma, thus identifying new oncogenic pathways and mutated genes, some of which were virtually unknown in cancer. These findings also have clinical relevance, providing elements for refined diagnosis and new therapeutic strategies. Further studies are needed to clarify the distribution of the identified mutations and their relationship with the Epstein-Barr virus infection.
Writing a News and Views for Nature Genetics is a result of the impact of innovative works led by Dr. Elías Campo and his team in the field of Chronic Lymphocytic Leukemia. The results obtained in the CLL Genome Project offer a new perspective on cancer research, integrating the results of the complete sequencing of the genome and epigenome of patients with leukemia. This research program, co-directed by Dr. Carlos López-Ortín from the Universidad de Oviedo, has already been able to identify the cells that cause the disease, discover new molecular mechanisms involved in its development and improve its diagnosis.