Genetic predisposition for multiple myeloma

Maroulio Pertesi, Molly Went, Markus Hansson, Kari Hemminki, Richard S. Houlston, Björn Nilsson

Research output: Contribution to journalReview articlepeer-review

16 Citations (SciVal)

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.

Original languageEnglish
Pages (from-to)697-708
Number of pages12
JournalLeukemia
Volume34
Issue number3
Early online date2020 Jan 8
DOIs
Publication statusPublished - 2020 Mar

Subject classification (UKÄ)

  • Medical Genetics

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