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.
journal_name
Leukemiajournal_title
Leukemiaauthors
Pertesi M,Went M,Hansson M,Hemminki K,Houlston RS,Nilsson Bdoi
10.1038/s41375-019-0703-6subject
Has Abstractpub_date
2020-03-01 00:00:00pages
697-708issue
3eissn
0887-6924issn
1476-5551pii
10.1038/s41375-019-0703-6journal_volume
34pub_type
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