Genetic predisposition for multiple myeloma

Forskningsoutput: TidskriftsbidragÖversiktsartikel

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.

Detaljer

Författare
Enheter & grupper
Externa organisationer
  • Institute of Cancer Research London
  • German Cancer Research Centre
  • Charles University in Prague
  • Broad Institute
Forskningsområden

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Medicinsk genetik
Originalspråkengelska
TidskriftLeukemia
StatusE-pub ahead of print - 2020 jan 8
PublikationskategoriForskning
Peer review utfördJa