Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility.

Sally YepesNirav N ShahJiwei BaiHela KokaChuzhong LiSongbai GuiMary Lou McMasterYanzi XiaoKristine JonesMingyi WangAurelie VogtBin ZhuBin ZhuAmy HutchinsonMeredith Yeager Belynda D HicksBrian CarterNeal D FreedmanLaura Beane-FreemanStephen J ChanockYazhuo ZhangDilys M ParryXiaohong R YangAlisa M Goldstein

Published in: Cancers (2021)

We identified several rare loss-of-function and predicted deleterious missense variants in germline DNA from patients with chordoma, which may influence chordoma predisposition and reflect a complex susceptibility, warranting further investigation in large studies.

Keyphrases

copy number
dna repair
circulating tumor
intellectual disability
single molecule
case control