Comprehensive molecular profiling of 718 Multiple Myelomas reveals significant differences in mutation frequencies between African and European descent cases
Liang, Winnie S.
Kittles, Rick A.
Craig, David Wesley
Carpten, John D.
AffiliationUniv Arizona, Dept Surg
MetadataShow full item record
PublisherPUBLIC LIBRARY SCIENCE
CitationComprehensive molecular profiling of 718 Multiple Myelomas reveals significant differences in mutation frequencies between African and European descent cases 2017, 13 (11):e1007087 PLOS Genetics
Rights© 2017 Manojlovic et al. This is an open access article distributed under the terms of the Creative Commons Attribution License.
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AbstractMultiple Myeloma (MM) is a plasma cell malignancy with significantly greater incidence and mortality rates among African Americans (AA) compared to Caucasians (CA). The overall goal of this study is to elucidate differences in molecular alterations in MM as a function of self-reported race and genetic ancestry. Our study utilized somatic whole exome, RNA-sequencing, and correlated clinical data from 718 MM patients from the Multiple Myeloma Research Foundation CoMMpass study Interim Analysis 9. Somatic mutational analyses based upon self-reported race corrected for ancestry revealed significant differences in mutation frequency between groups. Of interest, BCL7A, BRWD3, and AUTS2 demonstrate significantly higher mutation frequencies among AA cases. These genes are all involved in translocations in B-cell malignancies. Moreover, we detected a significant difference in mutation frequency of TP53 and IRF4 with frequencies higher among CA cases. Our study provides rationale for interrogating diverse tumor cohorts to best understand tumor genomics across populations.
NoteOpen access journal.
VersionFinal published version
SponsorsMultiple Myeloma Research Foundation (CoMMpass) MMRF-TGen Carpten and USC-Carpten; Start-up Fund, University of Southern California
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