Genetic predisposition for multiple myeloma
- 8 January 2020
- journal article
- review article
- Published by Springer Science and Business Media LLC in Leukemia
- Vol. 34 (3), 697-708
- https://doi.org/10.1038/s41375-019-0703-6
Abstract
Multiple myeloma (MM) is the second most common blood malignancy. Epidemiological family studies going back to the 1920s have provided evidence for familial aggregation, suggesting a subset of cases have an inherited genetic background. Recently, studies aimed at explaining this phenomenon have begun to provide direct evidence for genetic predisposition to MM. Genome-wide association studies have identified common risk alleles at 24 independent loci. Sequencing studies of familial cases and kindreds have begun to identify promising candidate genes where variants with strong effects on MM risk might reside. Finally, functional studies are starting to give insight into how identified risk alleles promote the development of MM. Here, we review recent findings in MM predisposition field, and highlight open questions and future directions.This publication has 168 references indexed in Scilit:
- Meta-analysis identifies four new loci associated with testicular germ cell tumorNature Genetics, 2013
- The Ubiquitin Ligase Siah1 Controls ELL2 Stability and Formation of Super Elongation Complexes to Modulate Gene TranscriptionMolecular Cell, 2012
- Disparities in the prevalence, pathogenesis and progression of monoclonal gammopathy of undetermined significance and multiple myeloma between blacks and whitesLeukemia, 2011
- Initial genome sequencing and analysis of multiple myelomaNature, 2011
- WAC, a Functional Partner of RNF20/40, Regulates Histone H2B Ubiquitination and Gene TranscriptionMolecular Cell, 2011
- Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia riskNature Genetics, 2010
- mTOR regulation of autophagyFEBS Letters, 2010
- Transcription elongation factor ELL2 directs immunoglobulin secretion in plasma cells by stimulating altered RNA processingNature Immunology, 2009
- Patterns of hematologic malignancies and solid tumors among 37,838 first‐degree relatives of 13,896 patients with multiple myeloma in SwedenInternational Journal of Cancer, 2009
- HoxC4 binds to the promoter of the cytidine deaminase AID gene to induce AID expression, class-switch DNA recombination and somatic hypermutationNature Immunology, 2009