Genetic predisposition for multiple myeloma

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Genetic predisposition for multiple myeloma. / Pertesi, Maroulio; Went, Molly; Hansson, Markus; Hemminki, Kari; Houlston, Richard S.; Nilsson, Björn.

In: Leukemia, 08.01.2020.

Research output: Contribution to journalReview article

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TY - JOUR

T1 - Genetic predisposition for multiple myeloma

AU - Pertesi, Maroulio

AU - Went, Molly

AU - Hansson, Markus

AU - Hemminki, Kari

AU - Houlston, Richard S.

AU - Nilsson, Björn

PY - 2020/1/8

Y1 - 2020/1/8

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85077707182&partnerID=8YFLogxK

U2 - 10.1038/s41375-019-0703-6

DO - 10.1038/s41375-019-0703-6

M3 - Review article

JO - Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K

JF - Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K

SN - 1476-5551

ER -