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Tumour detection and outcomes of surveillance screening in SDHB and SDHD pathogenic variant carriers.

Gemma WhiteAnand VelusamySamantha AnandappaMichael MasucciLouise A BreenMamta JoshiBarbara McGowanJohnathan G H HubbardRupert ObholzerDimitra ChristodoulouAudrey JacquesPhilip TouskaFahim-Ul HassanLouise IzattPaul V Carroll
Published in: Endocrine connections (2022)
Surveillance screening with combined biochemical testing and imaging enables early detection of PPGL in asymptomatic relatives with SDHx pathogenic variants. The presence of disease at first screen was significant in our cohort and hence further multi-centre long-term data are needed to inform counselling of family members undergoing lifelong surveillance.
Keyphrases
  • public health
  • high resolution
  • copy number
  • electronic health record
  • type diabetes
  • skeletal muscle
  • dna methylation
  • insulin resistance
  • label free
  • deep learning
  • antiretroviral therapy
  • hiv testing