2019
DOI: 10.1016/j.ajhg.2018.11.002
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Abstract: Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies, divided into training … Show more

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Cited by 730 publications
(936 citation statements)
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References 34 publications
(86 reference statements)
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“…Third, although we considered some different risk scores based on different thresholds on which SNPs to include, we lacked power to assess small changes to risk score, such in our ER‐subtype risk scores that included SNPs in a PRS with p < 10 −5 . This has recently been investigated in a much larger study of women with European ancestry . Predictive performance of their larger panel of 313 SNPs was similar to here but drew on using wholly imputed SNPs that has important barriers for clinical use.…”
Section: Discussionmentioning
confidence: 99%
“…Third, although we considered some different risk scores based on different thresholds on which SNPs to include, we lacked power to assess small changes to risk score, such in our ER‐subtype risk scores that included SNPs in a PRS with p < 10 −5 . This has recently been investigated in a much larger study of women with European ancestry . Predictive performance of their larger panel of 313 SNPs was similar to here but drew on using wholly imputed SNPs that has important barriers for clinical use.…”
Section: Discussionmentioning
confidence: 99%
“…6,[26][27][28] However, the relationship of the variation in breast cancer susceptibility loci with population differences in subtype prevalence is not clear. 6,[26][27][28] However, the relationship of the variation in breast cancer susceptibility loci with population differences in subtype prevalence is not clear.…”
Section: Discussionmentioning
confidence: 99%
“…These genes might confer higher BC risks than observed in the group of women from BRCA1/2 ‐negative families. Likewise, we have currently no information on common genetic variants and the distribution of its polygenic combination, which might also have an impact on our risk estimates …”
Section: Discussionmentioning
confidence: 99%