Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).
Reza AsadollahiChristian BritschgiPascal JosetBeatrice OnedaDetlev SchindlerUrs R MeierAnita RauchPublished in: Molecular genetics & genomic medicine (2020)
Considering the variable presentations of A-T and devastating impact of severe reactions to RT, we suggest a routine measurement of AFP in RT-candidate BC patients followed by next-generation sequencing with special attention to non-canonical splice site and synonymous variants in ATM.
Keyphrases
- copy number
- dna repair
- end stage renal disease
- early onset
- dna damage
- ejection fraction
- newly diagnosed
- chronic kidney disease
- early stage
- dna damage response
- genome wide
- prognostic factors
- radiation therapy
- working memory
- peritoneal dialysis
- clinical practice
- squamous cell carcinoma
- gene expression
- drug induced
- genome wide analysis