Ontology highlight
ABSTRACT:
SUBMITTER: Lee AJ
PROVIDER: S-EPMC5086091 | biostudies-literature | 2016 Dec
REPOSITORIES: biostudies-literature
Lee Andrew J AJ Cunningham Alex P AP Tischkowitz Marc M Simard Jacques J Pharoah Paul D PD Easton Douglas F DF Antoniou Antonis C AC
Genetics in medicine : official journal of the American College of Medical Genetics 20160414 12
<h4>Purpose</h4>The proliferation of gene panel testing precipitates the need for a breast cancer (BC) risk model that incorporates the effects of mutations in several genes and family history (FH). We extended the BOADICEA model to incorporate the effects of truncating variants in PALB2, CHEK2, and ATM.<h4>Methods</h4>The BC incidence was modeled via the explicit effects of truncating variants in BRCA1/2, PALB2, CHEK2, and ATM and other unobserved genetic effects using segregation analysis meth ...[more]