Germline RET variants underlie a subset of paediatric osteosarcoma.

Michal KovacConnor WoolleySebastian RibiClaudia BlattmannEva RothMarco MoriniMonika KovacovaBaptiste AmelineAndreas KulozikStefan BielackWolfgang HartmannMandy L BallingerDavid M ThomasIan TomlinsonMichaela NathrathKarl HeinimannDaniel Baumhoer

Published in: Journal of medical genetics (2020)

After Li-Fraumeni-predisposing mutations in TP53, RET becomes the second most mutated cancer-predisposing gene in the germline of patients with osteosarcoma. Hence, early identification of RET mutation carriers can help to identify at-risk family members and carry out preventive measures.

Keyphrases

copy number
dna repair
papillary thyroid
emergency department
intensive care unit
gene expression
squamous cell carcinoma
oxidative stress
lymph node metastasis
transcription factor
bioinformatics analysis