SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma

Conclusion SDHB truncating variants convey an elevated risk for development of both PPGL and malignancy compared with missense variants. These results further support earlier robust associations between truncating variants and PPGL, and also suggest that the two variant types differ in their impact on complex II function, with PPGL/HNPGL tissues displaying differing sensitivities to changes in complex II function.

http://jmg.bmj.com/cgi/content/short/60/1/25?rss=1

Source: Journal of Medical Genetics - December 23, 2022 Category: Genetics & Stem Cells Authors: Bayley, J. P., Bausch, B., Jansen, J. C., Hensen, E. F., van der Tuin, K., Corssmit, E. P., Devilee, P., Neumann, H. P. Tags: Cancer genetics Source Type: research