Heritable pathogenic defects in genes may increase the risk for sarcomas

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Heritable pathogenic defects in genes related to mitosis and telomere function may specifically increase the risk for sarcomas – rare cancers that develop in muscles, bones, and other connective tissues, researchers report.

The findings provide new biological insight into sarcoma development and could inform better genetic risk profiles for sarcoma susceptibility. Sarcomas are aggressive and difficult-to-treat cancers that tend to develop in younger patients. However, due to their relative rarity, they are not as well understood as other, more common forms of cancer.

To identify sarcoma-specific genetic pathways underlying these cancers, Mandy Ballinger and colleagues performed a comprehensive, population-based, case-control whole genome germline sequencing (WGS) study involving 1,644 individuals with sarcoma and 3,205 matched healthy controls. Through this, Ballinger et al. identified 14 pathogenic variants in genes related to mitosis and telomere integrity – specifically genes encoding components of the centrosome complex and shelterin complex, respectively. The findings suggest that alterations in these biological processes are key to sarcoma predisposition and increase the inherited risk for the disease.

"The study by Ballinger et al. should prompt further research to more firmly establish these candidates as sarcoma predisposition genes and to determine penetrance and the spectrum of cancer predisposition conferred by germline pathogenic variants," write Diana Mandelker and Marc Ladanyi in a related Perspective. "If confirmed, this will be critical to the management of individuals and families with sarcoma because it will enable more at-risk genetic testing and cancer surveillance."

Journal reference:

Ballinger, M.L., et al. (2023) Heritable defects in telomere and mitotic function selectively predispose to sarcomas. Science. doi.org/10.1126/science.abj4784.


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