Clinical Multigene Panel Testing Identifies Racial and Ethnic Differences in Germline Pathogenic Variants Among Patients With Early-Onset Colorectal Cancer.
Hannah M SeagleSamantha R KellerSean V TavtigianCarolyn HortonAndreana N HolowatyjPublished in: Journal of clinical oncology : official journal of the American Society of Clinical Oncology (2023)
Germline genetic features differed by race/ethnicity in young patients with CRC, suggesting that current multigene panel tests may not be representative of EOCRC risk in diverse populations. Further study is needed to optimize genes selected for genetic testing in EOCRC via ancestry-specific gene and variant discovery to yield equitable clinical benefits for all patients and to mitigate inequities in disease burden.
Keyphrases
- early onset
- genome wide
- copy number
- end stage renal disease
- late onset
- newly diagnosed
- dna repair
- dna methylation
- ejection fraction
- chronic kidney disease
- peritoneal dialysis
- small molecule
- gene expression
- patient reported outcomes
- single cell
- middle aged
- patient reported
- oxidative stress
- dna damage
- transcription factor