Multiple paragangliomas: a case report.

Vladislav S PavlovDmitry V KalininElena N LukyanovaAlexander L GolovyukMaria S FedorovaElena A PudovaMaria V SavvateevaAnastasiya V LipatovaZulfiya G GuvatovaAndrey D KaprinMarina V KiselevaTatiana B DemidovaSergey A SimanovskyNataliya V MelnikovaAlexey A DmitrievGeorge S KrasnovAnastasiya V SnezhkinaAnna V Kudryavtseva

Published in: BMC medical genomics (2020)

The identified germline variant in the SDHD gene seems to be a driver in the development of multiple paragangliomas. However, different spectra of somatic variants identified in each tumor indicate individual molecular mechanisms underlying their pathogenesis.

Keyphrases

copy number
genome wide
dna repair
oxidative stress
molecular dynamics
genome wide analysis