Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma.
Milena UrbiniMargherita NanniniAnnalisa AstolfiValentina IndioValentina VicennatiMatilde De LucaGiuseppe TarantinoFederica CorsoMaristella SaponaraLidia GattoDonatella SantiniGuido Di DalmaziUberto PagottoRenato PasqualiAndrea PessionGuido BiascoMaria A PantaleoPublished in: International journal of genomics (2018)
Additional somatic passenger mutations can be associated with known susceptibility VHL, NF1, and RET genes in PCCs, and a wide number of germline variants with still unknown clinical significance can be detected in these patients. Therefore, many efforts should be aimed to better define the pathogenetic role of all these germline variants for discovering novel potential therapeutic targets for this disease still orphan of effective treatments.
Keyphrases
- copy number
- dna repair
- end stage renal disease
- ejection fraction
- chronic kidney disease
- newly diagnosed
- genome wide
- prognostic factors
- papillary thyroid
- oxidative stress
- lps induced
- patient reported outcomes
- gene expression
- dna damage
- dna methylation
- transcription factor
- immune response
- risk assessment
- squamous cell
- young adults
- human health
- lymph node metastasis
- genome wide analysis