Validation of the BOADICEA model for epithelial tubo-ovarian cancer risk prediction in UK Biobank

Br J Cancer. 2024 Nov;131(9):1473-1479. doi: 10.1038/s41416-024-02851-z. Epub 2024 Sep 18.

Abstract

Background: The clinical validity of the multifactorial BOADICEA model for epithelial tubo-ovarian cancer (EOC) risk prediction has not been assessed in a large sample size or over a longer term.

Methods: We evaluated the model discrimination and calibration in the UK Biobank cohort comprising 199,429 women (733 incident EOCs) of European ancestry without previous cancer history. We predicted 10-year EOC risk incorporating data on questionnaire-based risk factors (QRFs), family history, a 36-SNP polygenic risk score and pathogenic variants (PV) in six EOC susceptibility genes (BRCA1, BRCA2, RAD51C, RAD51D, BRIP1 and PALB2).

Results: Discriminative ability was maximised under the multifactorial model that included all risk factors (AUC = 0.68, 95% CI: 0.66-0.70). This model was well calibrated in deciles of predicted risk with calibration slope=0.99 (95% CI: 0.98-1.01). Discriminative ability was similar in women younger or older than 60 years. The AUC was higher when analyses were restricted to PV carriers (0.76, 95% CI: 0.69-0.82). Using relative risk (RR) thresholds, the full model classified 97.7%, 1.7%, 0.4% and 0.2% women in the RR < 2.0, 2.0 ≤ RR < 2.9, 2.9 ≤ RR < 6.0 and RR ≥ 6.0 categories, respectively, identifying 9.1 of incident EOC among those with RR ≥ 2.0.

Discussion: BOADICEA, implemented in CanRisk ( www.canrisk.org ), provides valid 10-year EOC risks and can facilitate clinical decision-making in EOC risk management.

Publication types

  • Validation Study

MeSH terms

  • Adult
  • Aged
  • BRCA1 Protein / genetics
  • BRCA2 Protein* / genetics
  • Biological Specimen Banks*
  • Carcinoma, Ovarian Epithelial* / epidemiology
  • Carcinoma, Ovarian Epithelial* / genetics
  • Carcinoma, Ovarian Epithelial* / pathology
  • DNA-Binding Proteins / genetics
  • Fallopian Tube Neoplasms / epidemiology
  • Fallopian Tube Neoplasms / genetics
  • Fallopian Tube Neoplasms / pathology
  • Fanconi Anemia Complementation Group N Protein / genetics
  • Fanconi Anemia Complementation Group Proteins
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Middle Aged
  • Ovarian Neoplasms* / epidemiology
  • Ovarian Neoplasms* / genetics
  • Ovarian Neoplasms* / pathology
  • Polymorphism, Single Nucleotide
  • RNA Helicases
  • Risk Assessment / methods
  • Risk Factors
  • UK Biobank
  • United Kingdom / epidemiology

Substances

  • BRCA2 Protein
  • BRCA2 protein, human
  • BRCA1 Protein
  • BRCA1 protein, human
  • PALB2 protein, human
  • BRIP1 protein, human
  • DNA-Binding Proteins
  • RAD51C protein, human
  • Fanconi Anemia Complementation Group N Protein
  • RNA Helicases
  • Fanconi Anemia Complementation Group Proteins