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Genetic predisposition for multiple myeloma.
Leukemia ( IF 11.4 ) Pub Date : 2020-01-08 , DOI: 10.1038/s41375-019-0703-6
Maroulio Pertesi 1 , Molly Went 2 , Markus Hansson 1 , Kari Hemminki 3, 4 , Richard S Houlston 2 , Björn Nilsson 1, 5
Affiliation  

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.

中文翻译:

多发性骨髓瘤的遗传易感性。

多发性骨髓瘤(MM)是第二常见的血液恶性肿瘤。可以追溯到1920年代的流行病学家庭研究为家族聚集提供了证据,表明一部分病例具有遗传的遗传背景。最近,旨在解释这种现象的研究已开始为MM的遗传易感性提供直接证据。全基因组关联研究已确定了24个独立基因座的常见风险等位基因。对家族病例和亲属的测序研究已开始鉴定有希望的候选基因,这些基因可能对MM风险有很强的影响。最后,功能研究开始深入了解已识别的风险等位基因如何促进MM的发展。在这里,我们回顾了MM易感性领域的最新发现,并突出了未解决的问题和未来的方向。
更新日期:2020-01-08
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