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33 patients with Monoclonal Gammopathy of Undetermined Significance (MGUS)

UID: 10660

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
OncoTree Cancer Type(s)
Plasma Cell Myeloma
Access via EGA

BAM files of whole genome sequencing
Accession #: EGAD00001001901

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Associated Publications
Data Type
Equipment Used
Illumina HiSeq 2000
Dataset Format(s)
Data Tool(s)
Dataset Size
604 GB
Data Catalog Record Updated