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Table 2 Summary of studies assessing PRS and breast cancer risk prediction models

From: Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field

Reference Year Study design Cohort Cohort location Sample size No. of SNPs Risk prediction model AUC (95% CI) model only AUC (95% CI) PRS only AUC (95% CI) model and PRS
Wacholder et al. [58] 2010 Retrospective Non-familial USA, Poland 5590 cases
5998 controls
10 Gail 0.58 0.60 0.62
Mealiffe et al. [59] 2010 Retrospective Non-familial USA 1664 cases
1636 controls
7 Gail 0.54 (0.52–0.57) 0.59 (0.56–0.61) 0.62 (0.59–0.64)
Darabi et al. [60] 2012 Retrospective Non-familial Sweden 1569 cases
1730 controls
18 Gail, BMI, and PD 0.60 (0.58–0.62) 0.59 (0.56–0.61) 0.62 (0.59–0.64)
Dite et al. [56] 2013 Retrospective High-risk families Australia 962 cases
463 controls
7 Gail 0.58 (0.55–0.61) 0.58 (0.54–0.61) 0.61 (0.58–0.64)
Allman et al. [39] 2015 Retrospective Non-familial Hispanic 147 cases
3201 controls
75 Gail 0.55 (0.51–0.60) 0.59 (0.54–0.64) 0.61 (0.56–0.66)
TC 0.53 (0.48–0.57) 0.59 (0.54 to 0.64)
African American 421 cases
7049 controls
75 Gail 0.56 (0.53–0.59) 0.59 (0.54–0.64) 0.59 (0.56–0.61)
TC 0.51 (0.48–0.54) 0.55 (0.52–0.58)
Vachon et al. [40] 2015 Retrospective Non-familial USA 1643 cases
2397 controls
76 BCSC/BI-RADS 0.66 (0.61–0.70) 0.68 (0.66–0.69) 0.69 (0.67–0.71)
Dite et al. [46] 2016 Retrospective High-risk families Australia 1223 cases
805 controls
77 BOADICEA 0.66 (0.63–0.70) 0.61 (0.58–0.65) 0.70 (0.67–0.73)
BRCAPRO 0.65 (0.62–0.68) 0.69 (0.66–0.72)
Gail 0.64 (0.60–0.68) 0.67 (0.63–0.70)
TC 0.57 (0.53–0.60) 0.63 (0.59–0.66)
Shieh et al. [30] 2016 Retrospective Non-familial Combined cohort 482 cases
483 controls
83 BCSC 0.62 (0.59–0.66) 0.60 (0.57–0.64) 0.65 (0.61–0.68)
USA Caucasian 387 cases
387 controls
83 BCSC 0.62 (0.59–0.66) 0.59 (0.56–0.63) 0.63 (0.59–0.62)
Asian American 51 cases
51 controls
76 BCSC 0.62 (0.59–0.66) 0.64 (0.53–0.74) 0.72 (0.62–0.82)
Shieh et al. [65] 2017 Retrospective Non-familial USA 110 cases
214 controls
86 BCSC and estradiol levels 0.67 (0.60–0.74) 0.68 (0.61–0.75) 0.72 (0.65–0.79)
Starlard-Davenport et al. [62] 2018 Retrospective Non-familial African American 319 cases
599 controls
75 Gail 0.65 (0.61–0.69) 0.58 (0.54–0.62) 0.65 (0.62–0.70)
Van Veen et al. [41] 2018 Prospective Non-familial England 8897 unaffected
466 affected
18 TC and breast density 0.58 (0.52–0.62) Not reported 0.64 (0.62–0.71)
Zhang et al. [61] 2018 Prospective Non-familial USA 4006 cases 7874 controls 67 Gail, breast density, hormone levels 0.56* (0.55–0.57) Not reported 0.65 (0.64–0.66)
Evans et al. [52] 2019 Prospective Non-familial England 9362 unaffected women 18 TC and breast density Not reported Not reported Not reported
Lakeman et al. [64] 2019 Retrospective High-risk families Netherlands, Hungary 323 cases
262 unaffected female relatives
77 BOADICEA Not reported Not reported Not reported
Läll et al. [42] 2019 Retrospective Non-familial Estonia-Biobank and UK Biobank 3474 cases
43,827 controls
Meta GRS Gail model 0.68 0.64 0.72
  1. CI confidence interval, BMI body mass index, PD percentage density
  2. *AUC for Gail model only, not inclusive of breast density and hormone levels