Characterization of rare germline variants in familial multiple myeloma

Multiple myeloma (MM) is a malignancy of plasma cells, characterized by the presence of monoclonal immunoglobulin, known as M protein. MM is preceded by monoclonal gammopathy of undetermined significance (MGUS) which is also a precursor of immunoglobulin light chain (AL) amyloidosis. As the genetic basis of most MM families remains unexplained, our study aimed at identifying germline predisposition genes in familial MM from Germany, Sweden, and the Netherlands, through whole genome and exome sequencing. We provide information here curated sequencing results from 21 MM/MGUS families. While most of the 154 presented candidate genes are unlikely to have a causal relationship to MM, the identified genes could be a valuable contribution to forthcoming, pooled sequencing efforts. Kari Hemminki et all. Blood Cancer J. 2021 Feb 13;11(2):33. doi: 10.1038/s41408-021-00422-6.