The importance of Ethnicity: are breast cancer Polygenic Risk Scores ready for women who are not of white European origin?Citation formats

  • External authors:
  • Elke M Veen
  • Eleanor Roberts
  • Adam Brentnall
  • Jack Cuzick
  • William G. Newman

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The importance of Ethnicity: are breast cancer Polygenic Risk Scores ready for women who are not of white European origin? / Evans, D. Gareth; Veen, Elke M; Byers, Helen; Roberts, Eleanor; Howell, Anthony; Howell, Sacha J; Harkness, Elaine F; Brentnall, Adam; Cuzick, Jack; Newman, William G.

In: International Journal of Cancer, 30.08.2021.

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@article{7478da07b8ab4c789e02ea2de614ffc9,
title = "The importance of Ethnicity: are breast cancer Polygenic Risk Scores ready for women who are not of white European origin?",
abstract = "Polygenic risk scores (PRS) for disease risk stratification show great promise for application in general populations, but most are based on data from individuals of white European origin. We assessed two well validated PRS (SNP18, SNP143) in the Predicting-Risk-of-Cancer-At-Screening (PROCAS) study in North-West England for breast cancer prediction based on ethnicity. Overall, 9475 women without breast cancer at study entry, including 645 who subsequently developed invasive breast cancer or ductal carcinoma in situ provided DNA. All were genotyped for SNP18 and a subset of 1868 controls were genotyped for SNP143. For white Europeans both PRS discriminated well between individuals with and without cancer. For n=395 Black (n=112), Asian (n=119), mixed (n=44) or Jewish (n=120) women without cancer both PRS overestimated breast cancer risk, being most marked for women of Black and Jewish origin (p<0.001). SNP143 resulted in a potential mean 40% breast cancer risk overestimation in the combined group of non-white/non-European origin. SNP-PRS that has been normalized based on white European ethnicity for breast cancer should not be used to predict risk in women of other ethnicities. There is an urgent need to develop PRS specific for other ethnicities, in order to widen access of this technology.",
author = "Evans, {D. Gareth} and Veen, {Elke M} and Helen Byers and Eleanor Roberts and Anthony Howell and Howell, {Sacha J} and Harkness, {Elaine F} and Adam Brentnall and Jack Cuzick and Newman, {William G.}",
year = "2021",
month = aug,
day = "30",
doi = "10.1002/ijc.33782",
language = "English",
journal = "International journal of cancer. Journal international du cancer",
issn = "0020-7136",
publisher = "John Wiley & Sons Ltd",

}

RIS

TY - JOUR

T1 - The importance of Ethnicity: are breast cancer Polygenic Risk Scores ready for women who are not of white European origin?

AU - Evans, D. Gareth

AU - Veen, Elke M

AU - Byers, Helen

AU - Roberts, Eleanor

AU - Howell, Anthony

AU - Howell, Sacha J

AU - Harkness, Elaine F

AU - Brentnall, Adam

AU - Cuzick, Jack

AU - Newman, William G.

PY - 2021/8/30

Y1 - 2021/8/30

N2 - Polygenic risk scores (PRS) for disease risk stratification show great promise for application in general populations, but most are based on data from individuals of white European origin. We assessed two well validated PRS (SNP18, SNP143) in the Predicting-Risk-of-Cancer-At-Screening (PROCAS) study in North-West England for breast cancer prediction based on ethnicity. Overall, 9475 women without breast cancer at study entry, including 645 who subsequently developed invasive breast cancer or ductal carcinoma in situ provided DNA. All were genotyped for SNP18 and a subset of 1868 controls were genotyped for SNP143. For white Europeans both PRS discriminated well between individuals with and without cancer. For n=395 Black (n=112), Asian (n=119), mixed (n=44) or Jewish (n=120) women without cancer both PRS overestimated breast cancer risk, being most marked for women of Black and Jewish origin (p<0.001). SNP143 resulted in a potential mean 40% breast cancer risk overestimation in the combined group of non-white/non-European origin. SNP-PRS that has been normalized based on white European ethnicity for breast cancer should not be used to predict risk in women of other ethnicities. There is an urgent need to develop PRS specific for other ethnicities, in order to widen access of this technology.

AB - Polygenic risk scores (PRS) for disease risk stratification show great promise for application in general populations, but most are based on data from individuals of white European origin. We assessed two well validated PRS (SNP18, SNP143) in the Predicting-Risk-of-Cancer-At-Screening (PROCAS) study in North-West England for breast cancer prediction based on ethnicity. Overall, 9475 women without breast cancer at study entry, including 645 who subsequently developed invasive breast cancer or ductal carcinoma in situ provided DNA. All were genotyped for SNP18 and a subset of 1868 controls were genotyped for SNP143. For white Europeans both PRS discriminated well between individuals with and without cancer. For n=395 Black (n=112), Asian (n=119), mixed (n=44) or Jewish (n=120) women without cancer both PRS overestimated breast cancer risk, being most marked for women of Black and Jewish origin (p<0.001). SNP143 resulted in a potential mean 40% breast cancer risk overestimation in the combined group of non-white/non-European origin. SNP-PRS that has been normalized based on white European ethnicity for breast cancer should not be used to predict risk in women of other ethnicities. There is an urgent need to develop PRS specific for other ethnicities, in order to widen access of this technology.

U2 - 10.1002/ijc.33782

DO - 10.1002/ijc.33782

M3 - Article

JO - International journal of cancer. Journal international du cancer

JF - International journal of cancer. Journal international du cancer

SN - 0020-7136

ER -