Description: Dataset Description from EGA: " Monoclonal gammopathy of undetermined significance (MGUS) is a premalignant precursor of multiple myeloma (MM) with a 1% risk of progression per year. Although targeted analyses have shown the presence of specific genetic abnormalities such as IGH translocations, RB1 deletion, 1q gain, hyperdiploidy or RAS genes mutations, little is known about molecular mechanism of malignant transformation. We have performed whole exome sequencing together with SNP array analysis in 33 flow-cytometry separated abnormal PC samples of MGUS patients to describe somatic gene mutations and chromosome changes at the genome-wide level. Non-synonymous mutations (NS-SNVs) and copy number alterations (CNAs) were present in 97.0% and in 63.6% of cases, respectively. Importantly, the number of somatic mutations was significantly lower in MGUS compared to MM (p

Subject of Study

Homo sapiens

Subject(s)

Monoclonal Gammopathy of Undetermined Significance

Multiple Myeloma

Oncogene Proteins, Fusion

OncoTree Cancer Type(s)

Plasma Cell Myeloma

Access via EGA
BAM files of whole genome sequencing
Accession #: EGAD00001001901
Access Restrictions: Application Required
Access Instructions: The European Genome-Phenome Archive (EGA) provides a service for the permanent archiving and distribution of personally identifiable genetic and phenotypic data resulting from biomedical research projects. Data at EGA was collected from individuals whose consent agreements authorise data release only for specific research use to bona fide researchers. Strict protocols govern how information is managed, stored and distributed by the EGA project.

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Associated Publications: Oben B, Froyen G, Maclachlan K, et al. Whole-genome sequencing reveals progressive versus stable myeloma precursor conditions as two distinct entities. Nature Communications. 2021; 12:1861.

Schinke C, Boyle EM, Ashby C, et al. Genomic analysis of primary plasma cell leukemia reveals complex structural alterations and high-risk mutational patterns. Blood Cancer J. 2020;10(6):70. Published 2020 Jun 19.

Mikulasova A, Wardell CP, Murison A, et al. The spectrum of somatic mutations in monoclonal gammopathy of undetermined significance indicates a less complex genomic landscape than that in multiple myeloma. Haematologica. 2017;102(9):1617-1625.
Data Type: Genomic
Equipment Used: Illumina HiSeq 2000
High throughput gene sequencing system
Dataset Format(s): BAM
Data Tool(s): WGS
Dataset Size: 604 GB

Data Catalog Record Updated: 2021-07-06

33 patients with Monoclonal Gammopathy of Undetermined Significance (MGUS)