Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
Jung KimMatthew GianferanteDanielle M KaryadiStephen W HartleyMegan N FroneWen LuoLeslie L RobisonGregory T ArmstrongSmita BhatiaMichael DeanMeredith YeagerBin ZhuLei SongJoshua N SampsonYutaka YasuiWendy M LeisenringSeth A BrodieKelvin C de AndradeFernanda P FortesAlisa M GoldsteinPayal P KhinchaMitchell J MachielaMary Lou McMasterMichael L NickersonLeatrisse ObaAlexander PemovMaisa PinheiroMelissa RotunnoKarina Miranda SantiagoTalia Wegman-OstroskyW Ryan DiverLauren TerasNeal D FreedmanBelynda D HicksBin ZhuMingyi WangKristine JonesAmy A HutchinsonCasey L DagnallSharon A SavageMargaret A TuckerStephen J ChanockLindsay M MortonDouglas R StewartLisa MirabelloPublished in: JNCI cancer spectrum (2021)
In long-term pediatric cancer survivors, we identified P/LP variants in cancer-susceptibility genes not previously associated with pediatric cancer as well as confirmed known associations. Further characterization of variants in these genes in pediatric cancer will be important to provide optimal genetic counseling for patients and their families.
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