Variants associated with hematological cancers

Genetic variants associated with hematological cancers, which affect the blood, bone marrow, and lymph nodes, are reported in two independent studies this week in Nature Genetics.

Seishi Ogawa and colleagues report analysis of whole-exome sequence data-covering the coding regions of the genome-from 29 patients with a type of hematological cancer, called myeloid neoplasms, followed by targeted sequencing of nine cohesion-related genes in another 581 primary specimens of myeloid neoplasms. Cohesin is a protein complex involved in the cohesion of sister chromatids during cell division, post-replicative DNA repair and transcriptional regulation. They identified frequent recurrent mutations and deletions in multiple components of the cohesion complex in a range of myeloid neoplasms.

In a second paper, Richard Houlston and colleagues report a genome-wide association study for multiple myeloma, a malignancy of plasma blood cells. They identify four genomic regions, not overlapping with those reported in the first paper, newly associated with multiple myeloma.