Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.

Nathalia de Angelis de CarvalhoKarina Miranda SantiagoJoyce Maria Lisboa MaiaFelipe D'Almeida CostaMaria Nirvana FormigaDiogo Cordeiro de Queiroz SoaresDaniele PaixãoCelso Abdon Lopes de MelloCecilia Maria Lima da CostaJosé Claudio Casali da RochaBarbara RiveraDirce Maria CarraroGiovana Tardin Torrezan

Published in: Journal of medical genetics (2023)

Our findings reveal that a high proportion of young patients with sarcomas presented a GPV in a CPG, underscoring the urgency of establishing appropriate genetic screening strategies for these individuals and their families.

Keyphrases

genome wide
end stage renal disease
ejection fraction
newly diagnosed
copy number
dna methylation
peritoneal dialysis
prognostic factors
risk factors
gene expression
high grade
patient reported outcomes
dna damage
squamous cell
childhood cancer