Article
Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes.
Scientific reports - 26 May 2023
Møller Nanna Bæk, Boonen Desirée Sofie, Feldner Elisabeth Simone, Hao Qin, Larsen Martin, Lænkholm Anne-Vibeke, Borg Åke, Kvist Anders, Törngren Therese, Jensen Uffe Birk, Boonen Susanne Eriksen, Thomassen Mads, Terkelsen Thorkild
Abstract excerpt
BOADICEA is a comprehensive risk prediction model for breast and/or ovarian cancer (BC/OC) and for carrying pathogenic variants (PVs) in cancer susceptibility genes. In addition to BRCA1 and BRCA2, BOADICEA version 6 includes PALB2, CHEK2, ATM, BARD1, RAD51C and RAD51D. To validate its predictions for these genes, we conducted a retrospective study including 2033 individuals counselled at clinical genetics...
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