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[Preprint]. 2024 Feb 13:2024.02.12.24302043. [Version 1] doi: 10.1101/2024.02.12.24302043

Table 2:

Mean and SD used to standardize PRS313 of a 50-year-old woman with raw PRS313 equal to 0.341 from Greece and another 50-year-old woman with raw PRS313 equal 0.273 from Ireland, and the risk estimation and categorization when using the CanRisk tool, Greek and Ireland values.

Samples used for the standardization: Raw PRS; Mean (SD) Standardized PRS1 Percentage based on CanRisk tool Lifetime risk based on CanRisk tool2 NICE Risk category
Individual from Greece with raw PRS313 = 0.341 (falling into the 90–95% percentile category in the full BCAC dataset)
CanRisk tool3 −0.424 (0.611) 1.253 89.5% 14.1% Moderate
Controls Greece (raw)4 −0.305 (0.612) 1.056 85.5% 13.3% Population
Controls Greece adjusted for 6 PCs (raw) −0.420 (0.696) 1.094 86.3% 13.5% Population
Controls Greece, using Empirical Bayes method −0.325 (0.554) 1.204 88.6% 13.9% Moderate
Individual from Ireland with raw PRS313 = 0.273 (falling into the 85–90% percentile category in the full BCAC dataset)
CanRisk tool3 −0.424 (0.611) 1.14 87.3% 13.7% Population
Controls Ireland (raw)1 −0.519 (0.624) 1.27 89.8% 14.2% Moderate
Controls Ireland adjusted for 6 PCs (raw) −0.456 (0.74) 0.985 83.8% 13% Population
Controls Ireland, using EB −0.503 (0.562) 1.38 91.7% 14.7% Moderate
1

Standardised based on the mean and SD specified in the second column

2

Absolute risk of developing breast cancer by the age of 80

3

When a variant call format (vcf) file is uploaded to the CanRisk tool, a raw PRS313 can be calculated and standardized using the mean (SD) −0.424 (0.611)

4

Adjusted for array type