Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model.
Andrew J LeeAlex P CunninghamMarc TischkowitzJacques SimardPaul D P PharoahDouglas F EastonAntonis C AntoniouPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
The model may be a valuable tool for counseling women who have undergone gene panel testing for providing consistent risks and harmonizing their clinical management. A Web application can be used to obtain BC risks in clinical practice (http://ccge.medschl.cam.ac.uk/boadicea/).Genet Med 18 12, 1190-1198.
Keyphrases
- breast cancer risk
- clinical practice
- copy number
- human health
- polycystic ovary syndrome
- risk assessment
- type diabetes
- metabolic syndrome
- dna methylation
- oxidative stress
- dna repair
- gene expression
- pregnant women
- climate change
- skeletal muscle
- dna damage response
- hiv testing
- hiv infected
- antiretroviral therapy
- cervical cancer screening