PMID- 31387987
OWN - NLM
STAT- MEDLINE
DCOM- 20200427
LR  - 20221207
IS  - 2044-5385 (Electronic)
IS  - 2044-5385 (Linking)
VI  - 9
IP  - 8
DP  - 2019 Aug 6
TI  - Mutational processes contributing to the development of multiple myeloma.
PG  - 60
LID - 10.1038/s41408-019-0221-9 [doi]
LID - 60
AB  - To gain insight into multiple myeloma (MM) tumorigenesis, we analyzed the 
      mutational signatures in 874 whole-exome and 850 whole-genome data from the 
      CoMMpass Study. We identified that coding and non-coding regions are 
      differentially dominated by distinct single-nucleotide variant (SNV) mutational 
      signatures, as well as five de novo structural rearrangement signatures. 
      Mutational signatures reflective of different principle mutational 
      processes-aging, defective DNA repair, and apolipoprotein B editing complex 
      (APOBEC)/activation-induced deaminase activity-characterize MM. These mutational 
      signatures show evidence of subgroup specificity-APOBEC-attributed signatures 
      associated with MAF translocation t(14;16) and t(14;20) MM; potentially DNA 
      repair deficiency with t(11;14) and t(4;14); and aging with hyperdiploidy. 
      Mutational signatures beyond that associated with APOBEC are independent of 
      established prognostic markers and appear to have relevance to predicting 
      high-risk MM.
FAU - Hoang, Phuc H
AU  - Hoang PH
AD  - Division of Genetics and Epidemiology, The Institute of Cancer Research, London, 
      UK.
AD  - Division of Molecular Pathology, The Institute of Cancer Research, London, UK.
FAU - Cornish, Alex J
AU  - Cornish AJ
AUID- ORCID: 0000-0002-3966-3501
AD  - Division of Genetics and Epidemiology, The Institute of Cancer Research, London, 
      UK.
FAU - Dobbins, Sara E
AU  - Dobbins SE
AD  - Division of Genetics and Epidemiology, The Institute of Cancer Research, London, 
      UK.
FAU - Kaiser, Martin
AU  - Kaiser M
AD  - Division of Molecular Pathology, The Institute of Cancer Research, London, UK.
FAU - Houlston, Richard S
AU  - Houlston RS
AUID- ORCID: 0000-0002-5268-0242
AD  - Division of Genetics and Epidemiology, The Institute of Cancer Research, London, 
      UK. Richard.Houlston@icr.ac.uk.
AD  - Division of Molecular Pathology, The Institute of Cancer Research, London, UK. 
      Richard.Houlston@icr.ac.uk.
LA  - eng
GR  - C1298/A8362/CRUK_/Cancer Research UK/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20190806
PL  - United States
TA  - Blood Cancer J
JT  - Blood cancer journal
JID - 101568469
RN  - 0 (MAF protein, human)
RN  - 0 (Proto-Oncogene Proteins c-maf)
RN  - EC 3.5.4.5 (APOBEC Deaminases)
SB  - IM
MH  - APOBEC Deaminases/genetics
MH  - DNA Mutational Analysis
MH  - Humans
MH  - Multiple Myeloma/*genetics/metabolism/pathology
MH  - *Mutation
MH  - Prognosis
MH  - Proto-Oncogene Proteins c-maf/genetics
MH  - Survival Rate
MH  - Transcriptome
MH  - Translocation, Genetic
MH  - Exome Sequencing/methods
MH  - Whole Genome Sequencing/methods
PMC - PMC6684612
COIS- The authors declare that they have no conflict of interest.
EDAT- 2019/08/08 06:00
MHDA- 2020/04/28 06:00
PMCR- 2019/08/06
CRDT- 2019/08/08 06:00
PHST- 2019/01/14 00:00 [received]
PHST- 2019/05/08 00:00 [accepted]
PHST- 2019/04/26 00:00 [revised]
PHST- 2019/08/08 06:00 [entrez]
PHST- 2019/08/08 06:00 [pubmed]
PHST- 2020/04/28 06:00 [medline]
PHST- 2019/08/06 00:00 [pmc-release]
AID - 10.1038/s41408-019-0221-9 [pii]
AID - 221 [pii]
AID - 10.1038/s41408-019-0221-9 [doi]
PST - epublish
SO  - Blood Cancer J. 2019 Aug 6;9(8):60. doi: 10.1038/s41408-019-0221-9.