Pathologic Germline Variants in Hereditary Cancer Genes Common in Multiple Myeloma

Although multiple myeloma (MM) is known to have an inherited predisposition and pathologic/likely-pathologic germline variants (PGV) in hereditary cancer genes (HCG) are common in adult patients with cancer, little is known about the prevalence of PGVs in patients with MM.

Santiago Thibaud, MD and colleagues analyzed whole-exome sequencing of germline DNA from 895 patients with newly-diagnosed MM to identify PGV according to ACMG variant classification guidelines.

83 PGV in 31 distinct HCG were identified in 8.8% of sample patients. Patients with a family history of hematologic malignancy and those diagnosed before age 40 were more likely to have a PGV identified.