Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma

Conclusions
This study demonstrates that the risk of developing PPGL for a subject carrying a germline SDHD mutation on the maternal allele remains a rare scenario but does exist. Our data suggest an adjustment of current genetic counselling and clinical care recommendations for at-risk subjects. A targeted familial genetic test should be proposed from the age of 18 years to every subject having a mother carrying a germline SDHD mutation and a first medical workup, including imaging, should be recommended to SDHD-positive mutation carriers.

Source: Journal of Medical Genetics - January 19, 2017 Category: Genetics & Stem Cells Authors: Burnichon, N., Mazzella, J.-M., Drui, D., Amar, L., Bertherat, J., Coupier, I., Delemer, B., Guilhem, I., Herman, P., Kerlan, V., Tabarin, A., Wion, N., Lahlou-Laforet, K., Favier, J., Gimenez-Roqueplo, A.-P. Tags: Genetic screening / counselling, Molecular genetics, Screening (oncology), Epidemiology Cancer genetics Source Type: research