Table 2

Breast cancer lifetime risk category change based on the IKNL guideline

GroupBOADICEA lifetime riskNo gene test resultNon-PV carriers CHEK2 PV carriers* ATM PV carriers* PALB2 PV carriers
Without PRS313 (%)Including PRS313 (%)n% changen% changen% changen% changen% change
Overall change32.433.926.317.90.0
Upward change29.126.419.812.80.0
Overall change4.44.758.155.60.0
Upward change4.44.719.444.40.0
  • In total, 1331 cases and 890 controls were included without a gene test result; 2369 cases and 2537 controls in the non-PV carrier group; 167 cases and 31 controls in the CHEK2 PV carrier group; 39 cases and 9 controls in the ATM PV carrier group; and 10 cases and 7 controls in the PALB2 PV carrier group.

  • *Two individuals with both a pathogenic variant in CHEK2 and ATM were excluded.

  • BOADICEA, Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm; IKNL, Netherlands Comprehensive Cancer Organisation; NA, Not Applicable; PRS, Polygenic Risk Score; PV, pathogenic variant.