Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.
Kara N MaxwellBradley WubbenhorstKurt D'AndreaBradley GarmanKatherine L NathansonJacquelyn PowersKatherine RathbunJill E StopferJiajun ZhuAngela R BradburyMichael S SimonAngela DeMicheleSusan M DomchekKatherine L NathansonPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2014)
These data demonstrate that massively parallel sequencing identifies reportable variants in known cancer susceptibility genes in more than 30% of patients with early-onset breast cancer. However, only few patients (2.5%) have definitively actionable mutations given current clinical management guidelines.Genet Med 17 8, 630-638.
Keyphrases
- early onset
- late onset
- genome wide
- end stage renal disease
- ejection fraction
- newly diagnosed
- chronic kidney disease
- papillary thyroid
- dna methylation
- squamous cell carcinoma
- electronic health record
- clinical practice
- gene expression
- bioinformatics analysis
- squamous cell
- artificial intelligence
- deep learning
- genome wide analysis