Multiple Myeloma Risk and Outcomes are Associated with Pathogenic Germline Variation in DNA Repair Genes
There is considerable evidence to suggest that germline genetic variation contributes to multiple myeloma (MM) risk. First-degree relatives of MM patients have 2-4 fold higher risk of MM or precursor conditions, as well as higher risk of developing other solid and hematologic cancers. Moreover, sequencing studies of MM families have detected a small number of rare, high-penetrance germline variants in candidate MM susceptibility genes (CDKN2A, KDM1A, USP45, ARID1A, DIS3, and EP300). However, the contribution of pathogenic or likely pathogenic germline variants (PGVs) in known genes associated with hereditary cancer (HC) syndromes to MM risk remains unknown.