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Åke Borg

Åke Borg

Principal investigator

Åke Borg

Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes

Author

  • Nanna Bæk Møller
  • Desirée Sofie Boonen
  • Elisabeth Simone Feldner
  • Qin Hao
  • Martin Larsen
  • Anne Vibeke Lænkholm
  • Åke Borg
  • Anders Kvist
  • Therese Törngren
  • Uffe Birk Jensen
  • Susanne Eriksen Boonen
  • Mads Thomassen
  • Thorkild Terkelsen
Show all

Summary, in English

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 departments in Denmark. All counselees underwent comprehensive genetic testing by next generation sequencing on suspicion of hereditary susceptibility to BC/OC. Likelihoods of PVs were predicted from information about diagnosis, family history and tumour pathology. Calibration was examined using the observed-to-expected ratio (O/E) and discrimination using the area under the receiver operating characteristics curve (AUC). The O/E was 1.11 (95% CI 0.97–1.26) for all genes combined. At sub-categories of predicted likelihood, the model performed well with limited misestimation at the extremes of predicted likelihood. Discrimination was acceptable with an AUC of 0.70 (95% CI 0.66–0.74), although discrimination was better for BRCA1 and BRCA2 than for the other genes in the model. This suggests that BOADICEA remains a valid decision-making aid for determining which individuals to offer comprehensive genetic testing for hereditary susceptibility to BC/OC despite suboptimal calibration for individual genes in this population.

Department/s

  • Breastcancer-genetics
  • Familial Breast Cancer
  • LUCC: Lund University Cancer Centre

Publishing year

2023

Language

English

Publication/Series

Scientific Reports

Volume

13

Issue

1

Document type

Journal article

Publisher

Nature Publishing Group

Topic

  • Cancer and Oncology

Status

Published

Research group

  • Familial Breast Cancer

ISBN/ISSN/Other

  • ISSN: 2045-2322