Germline Variants Found in Half of Evaluated Patients With Sarcoma

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More than 50% of patients with varying forms of sarcoma may have pathogenic monogenic and polygenic variation in cancer genes.
More than 50% of patients with varying forms of sarcoma may have pathogenic monogenic and polygenic variation in cancer genes.

More than 50% of patients with varying forms of sarcoma may have pathogenic monogenic and polygenic variation in cancer genes, according to a study published in The Lancet Oncology.1

Researchers included genetic data from 1162 patients diagnosed with bone or soft-tissue sarcoma who were older than 15, with a median age of diagnosis of 46, at the time of study enrollment; clinical, pathological, and pedigree information was taken and evaluated, as well as information about any patient's personal diagnosis or diagnosis of a relative.

Blood or saliva samples were taken to perform exon sequencing on 72 genes previously associated with cancer risk; control analysis for rare genetic variants was performed using data from 6545 controls.

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More than half (638) of patients carried an excess of pathogenic germline variants. Patients were more likely to have have multiple pathogenic variants than controls.

The authors concluded that the pathogenic variants found in patients have implications both for risk management and treatment.

Reference

  1. Ballinger ML, Goode DL, Ray-Coquard I, et al. Monogenic and polygenic determinants of sarcoma risk: an international genetic study. Lancet Oncol. 2016 Aug 4. doi: 10.1016/S1470-2045(16)30147-4 [Epub ahead of print]

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