Sequencing in High-Risk Multiple Myeloma Pedigrees

Multiple myeloma (MM) is a cancer of the plasma cells characterized by the accumulation of malignant cells in the bone marrow. It is relatively rare but is devastating as it is usually incurable and 43.2% of patients die within five years of disease onset. An inherited genetic component for MM is strongly supported from family, case control and registry/genealogy studies. The challenge in the field until now has been the absence of available MM pedigrees to study due to low survival and lack of known family relationships.

The existence of the Utah Cancer Registry (UCR), the Huntsman Cancer Hospital (HCH) and the Utah Population Database (UPDB) in Utah uniquely positioned a team led by Nicola Camp, PhD, to develop resources for these valuable pedigree studies. Based on 432 sampled individuals gathered over the past four years and records linked to the UPDB, the team has identified fifteen high risk MM pedigrees of five to seven generations deep with three to twenty-five confirmed MM cases in each. Genetic study of eleven of these pedigrees represents the first study of its kind.

In the current project, investigators are sequencing 28 MM cases with the goal of identifying genetic variations that predispose individuals to the disease. Parallel to exome sequencing, the investigators will also use high-density genotyping to identify segregating segments that will be useful for the prioritization of any interesting sequence variants identified.

The identification of genetic variants that can recognize individuals at risk for MM will provide the potential for early / presymptomatic detection, diagnosis, prognosis, risk stratification, treatment management and avenues for new therapeutic targets for this deadly disease.

LIsten to an interview with Nicola Camp on The Scope Radio

multiple myeloma

Micrograph showing multiple myeloma. The sample reveals an accumulation of malignant plasma cells.

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