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