Pathogenic Germline Mutational Landscape in Patients With Renal Cell Carcinoma and Associated Clinicopathologic Features.
Charles B NguyenClaire KnausJinju LiMarie-Louise AccardoErika KoeppeUlka N VaishampayanAjjai S AlvaTobias ElsePublished in: JCO precision oncology (2023)
Among patients with RCC, unselected for a known familial predisposition, 13.4% had P/LP variants. Almost half of patients with P/LP variants had a potentially targetable mutation. Targeted gene panel testing is a feasible option for patients, particularly if syndromic features are present. Age and family history were not associated with P/LP variants. Future studies are needed to optimize current genetic evaluation criteria to expand the detection of patients with RCC who may have germline mutations.
Keyphrases
- copy number
- renal cell carcinoma
- end stage renal disease
- genome wide
- ejection fraction
- newly diagnosed
- chronic kidney disease
- dna repair
- peritoneal dialysis
- intellectual disability
- cancer therapy
- single cell
- gene expression
- dna damage
- loop mediated isothermal amplification
- oxidative stress
- autism spectrum disorder
- transcription factor
- label free