Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
Katrina A AndrewsDavid B AscherDouglas Eduardo Valente PiresDaniel R BarnesLindsey VialardRuth T CaseyNicola BradshawJulian AdlardSimon AylwinPaul BrennanCarole BrewerTrevor ColeJackie A CookRosemarie DavidsonAlan DonaldsonAlan FryerLynn GreenhalghShirley V HodgsonRichard IrvingFiona LallooMichelle McConachieVivienne P M McConnellPatrick J MorrisonVictoria MurdaySoo-Mi ParkHelen L SimpsonKatie SnapeSusan StewartSusan E TomkinsYvonne WallisLouise IzattDavid GoudieRobert S LindsayColin G PerryEmma R WoodwardAntonis C AntoniouEamonn R MaherPublished in: Journal of medical genetics (2018)
Overall risks of clinically apparent tumours for SDHB mutation carriers are substantially lower than initially estimated and will improve counselling of affected families. Specific genotype-tumour risk associations provides a basis for novel investigative strategies into succinate dehydrogenase-related mechanisms of tumourigenesis and the development of personalised management for SDHB/SDHC/SDHD mutation carriers.