[HTML][HTML] Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model
Purpose 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. Methods 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 methods. Results The predicted average BC risk by age …
(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. Methods 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 methods. Results The predicted average BC risk by age …