| Title: |
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers. |
| Authors: |
Yang,Xin; Mooij,Thea M; Leslie,Goska; Ficorella,Lorenzo; Andrieu,Nadine; Kast,Karin; Singer,Christian F; Jakubowska,Anna; van Gils, Carla H; Tan,Yen Y; Engel,Christoph; Adank,Muriel A; van Asperen,Christi J; Ausems, Margreet G E M; Berthet,Pascaline; Collee,Margriet J; Cook,Jackie A; Eason,Jacqueline; Spaendonck-Zwarts,Karin Y van; Evans,D Gareth; Gómez García,Encarna B; Hanson,Helen; Izatt,Louise; Kemp,Zoe; Lalloo,Fiona; Lasset,Christine; Lesueur,Fabienne; Musgrave,Hannah; Nambot,Sophie; Noguès,Catherine; Oosterwijk,Jan C; Stoppa-Lyonnet,Dominique; Tischkowitz,Marc; Tripathi,Vishakha; Wevers, Marijke R; Zhao,Emily; van Leeuwen,Flora E; Schmidt,Marjanka K; Easton,Douglas F; Rookus,Matti A; Antoniou,Antonis C; EMBRACE Collaborators; Epi Kanker Team A; Cancer; JC onderzoeksprogramma Cancer; Genetica Klinische Genetica |
| Publication Year: |
2024 |
| Subject Terms: |
Early Diagnosis; Genetic Counseling; Public Health; Women's Health; Genetics(clinical); Genetics; Journal Article |
| Description: |
Background: No validation has been conducted for the BOADICEA multifactorial breast cancer risk prediction model specifically in BRCA1/2 pathogenic variant (PV) carriers to date. Here, we evaluated the performance of BOADICEA in predicting 5-year breast cancer risks in a prospective cohort of BRCA1/2 PV carriers ascertained through clinical genetic centres. Methods: We evaluated the model calibration and discriminatory ability in the prospective TRANsIBCCS cohort study comprising 1614 BRCA1 and 1365 BRCA2 PV carriers (209 incident cases). Study participants had lifestyle, reproductive, hormonal, anthropometric risk factor information, a polygenic risk score based on 313 SNPs and family history information. Results: The full multifactorial model considering family history together with all other risk factors was well calibrated overall (E/O=1.07, 95% CI: 0.92 to 1.24) and in quintiles of predicted risk. Discrimination was maximised when all risk factors were considered (Harrell's C-index=0.70, 95% CI: 0.67 to 0.74; area under the curve=0.79, 95% CI: 0.76 to 0.82). The model performance was similar when evaluated separately in BRCA1 or BRCA2 PV carriers. The full model identified 5.8%, 12.9% and 24.0% of BRCA1/2 PV carriers with 5-year breast cancer risks of |
| Document Type: |
article in journal/newspaper |
| File Description: |
text/plain |
| Language: |
English |
| ISSN: |
0022-2593 |
| Relation: |
https://dspace.library.uu.nl/handle/1874/454622 |
| Availability: |
https://dspace.library.uu.nl/handle/1874/454622 |
| Rights: |
info:eu-repo/semantics/OpenAccess |
| Accession Number: |
edsbas.A67E0B59 |
| Database: |
BASE |