ICR researchers find new genetic variations that could be linked to myeloma risk

4 July 2016 (Last Updated July 4th, 2016 18:30)

Researchers from London’s Institute of Cancer Research (ICR) have discovered eight new genetic variations in the human genome that can be connected to an increased risk of developing myeloma.

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Researchers from London's Institute of Cancer Research (ICR) have discovered eight new genetic variations in the human genome that can be connected to an increased risk of developing myeloma.

Myeloma is a rare and incurable form of cancer that affects the plasma cells in bone marrow. Plasma cells are a type of white blood cells responsible for producing antibodies.

The study has also provided additional evidence and builds on existing research with claims that myeloma can be genetic.

ICR molecular and population genetics professor and study leader Richard Houlston said: "Our study expands our understanding of how inherited risk factors can influence the risk of myeloma.

"We know that the inherited risk of myeloma does not come from just one or two major risk genes, as can be the case with breast cancer, but from multiple different genetic variants, each with only a small individual effect on risk.

"Identifying more of these variants gives us new insights into the potential causes of the disease, and open up new strategies for prevention."

As part of the research, ICR scientists compared the genomes of myeloma patients with those of healthy individuals, as well as combined and re-evaluated data from similar research carried out as part of a genome-wide association study (GWAS).

The researchers compared DNA from a total of 9,866 myeloma patients with 239,188 healthy adult individuals.

Eight single nucleotide polymorphisms (SNPs), which inherited single letter variations in DNA, were connected to increased vulnerability of developing myeloma.

The eight SNPs were positioned in regions of the genome that were involved in regulating genes linked to cell processes that caused myeloma development.

"Identifying more of these variants gives us new insights into the potential causes of the disease, and open up new strategies for prevention."

The SNPs helped in the production of antibodies in plasma cells, along with the regulation of gene activity and cell maturation.

According to the ICR findings, subtle effects on the activity of key genes can break down the proper development of plasma cells, thereby increasing the chances of developing myeloma in a person.

The ICR research team has currently identified a total of 17 risk variants for myeloma, which accounts for only 20% of the heritable risk factors connected to myeloma, while further GWAS studies of patients are planned.

About 5,500 people in the UK are diagnosed with myeloma every year, while one in 115 men and one in 155 women within the general population are expected to be affected with myeloma during their lifetime.


Image: Myeloma of sphenoid sinus. Photo: courtesy of Wellcome Images/CC by-nc-nd 4.0.