Student or educator? Sign up with your school email and get 6 months of Pro free.
CoChat
Sign Up
Cited by 1,097

The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

Open access
Mavaddat, Nasim, Michailidou, Kyriaki, Dennis, Joe, Lush, Michael, Fachal, Laura, Lee, Andrew, Tyrer, Jonathan P., Chen, Ting-Huei, Wang, Qin, Bolla, Manjeet K., Yang, Xin, Adank, Muriel A., Ahearn, Thomas, Aittomäki, Kristiina, Allen, Jamie, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Auer, Paul L., Auvinen, Päivi, Barrdahl, Myrto, Beane Freeman, Laura E., Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Bremer, Michael, Brenner, Hermann, Brentnall, Adam, Brock, Ian W., Brooks-Wilson, Angela, Brucker, Sara Y., Brüning, Thomas, Burwinkel, Barbara, Campa, Daniele, Carter, Brian D., Castelao, Jose E., Chanock, Stephen J., Chlebowski, Rowan, Christiansen, Hans, Clarke, Christine L., Collée, J. Margriet, Cordina-Duverger, Emilie, Cornelissen, Sten, Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dörk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Försti, Asta, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, Gapstur, Susan M., García-Sáenz, José A., Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Gilyazova, Irina R., Glendon, Gord, Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Grenaker Alnæs, Grethe I., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hankinson, Susan E., Harkness, Elaine F., Hart, Steven N., He, Wei, Hein, Alexander, Heyworth, Jane, Hillemanns, Peter, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Huang, Guanmengqian, Humphreys, Keith, Hunter, David J., Jakimovska, Milena, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Johnson, Nichola, Jones, Michael E., Jukkola-Vuorinen, Arja, Jung, Audrey, Kaaks, Rudolf, Kaczmarek, Katarzyna, Kataja, Vesa, Keeman, Renske, Kerin, Michael J., Khusnutdinova, Elza, Kiiski, Johanna I., Knight, Julia A., Ko, Yon-Dschun, Kosma, Veli-Matti, Koutros, Stella, Kristensen, Vessela N., Krüger, Ute, Kühl, Tabea, Lambrechts, Diether, Le Marchand, Loic, Lee, Eunjung, Lejbkowicz, Flavio, Lilyquist, Jenna, Lindblom, Annika, Lindström, Sara, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Lubiński, Jan, Lux, Michael P., MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Maleva Kostovska, Ivana, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John W.M., Martinez, Maria Elena, Mavroudis, Dimitrios, McLean, Catriona, Meindl, Alfons, Menon, Usha, Middha, Pooja, Miller, Nicola, Moreno, Fernando, Mulligan, Anna Marie, Mulot, Claire, Muñoz-Garzon, Victor M., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Newman, William G., Nielsen, Sune F., Nordestgaard, Børge G., Norman, Aaron, Offit, Kenneth, Olson, Janet E., Olsson, Håkan, Orr, Nick, Pankratz, V. Shane, Park-Simon, Tjoung-Won, Perez, Jose I.A., Pérez-Barrios, Clara, Peterlongo, Paolo, Peto, Julian, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Polley, Eric C., Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Purrington, Kristen, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rau-Murthy, Rohini, Rennert, Gad, Rennert, Hedy S., Rhenius, Valerie, Robson, Mark, Romero, Atocha, Ruddy, Kathryn J., Ruebner, Matthias, Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schumacher, Fredrick, Schürmann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J., Seynaeve, Caroline, Shah, Mitul, Sherman, Mark E., Shrubsole, Martha J., Shu, Xiao-Ou, Slager, Susan, Smeets, Ann, Sohn, Christof, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Stegmaier, Christa, Stone, Jennifer, Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Terry, Mary Beth, Thöne, Kathrin, Tollenaar, Rob A.E.M., Tomlinson, Ian, Truong, Thérèse, Tzardi, Maria, Ulmer, Hans-Ulrich, Untch, Michael, Vachon, Celine M., van Veen, Elke M., Vijai, Joseph, Weinberg, Clarice R., Wendt, Camilla, Whittemore, Alice S., Wildiers, Hans, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zhang, Yan, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M., Thompson, Deborah J., Chenevix-Trench, Georgia, Chang-Claude, Jenny, Schmidt, Marjanka K., Hall, Per, Milne, Roger L., Pharoah, Paul D.P., Antoniou, Antonis C., Chatterjee, Nilanjan, Kraft, Peter, García-Closas, Montserrat, Simard, Jacques, Easton, Douglas F.·2019·The American Journal of Human Genetics
DOI 10.1016/j.ajhg.2018.11.002
Open this paper in CoChat — free account

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 and validation sets. Samples were genotyped using genome-wide arrays, and single-nucleotide polymorphisms (SNPs) were selected by stepwise regression or lasso penalized regression. The best performing PRSs were validated in an independent test set comprising 11,428 case subjects and 18,323 control subjects from 10 prospective studies and 190,040 women from UK Biobank (3,215 incident breast cancers). For the best PRSs (313 SNPs), the odds ratio for overall disease per 1 standard deviation in ten prospective studies was 1.61 (95%CI: 1.57-1.65) with area under receiver-operator curve (AUC) = 0.630 (95%CI: 0.628-0.651). The lifetime risk of overall breast cancer in the top centile of the PRSs was 32.6%. Compared with women in the middle quintile, those in the highest 1% of risk had 4.37- and 2.78-fold risks, and those in the lowest 1% of risk had 0.16- and 0.27-fold risks, of developing ER-positive and ER-negative disease, respectively. Goodness-of-fit tests indicated that this PRS was well calibrated and predicts disease risk accurately in the tails of the distribution. This PRS is a powerful and reliable predictor of breast cancer risk that may improve breast cancer prevention programs.

Overview

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1016/j.ajhg.2018.11.002

Cites

6 of 6 references verified0 citation errors · 0 not checkable

Statistics

Verification

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Citations

Cites

Show all 6 references

Cited by

See all 1,097

Metadata

Authors
Mavaddat, N., Michailidou, K., Dennis, J., Lush, M., Fachal, L., Lee, A., Tyrer, J. P., Chen, T.-H., Wang, Q., Bolla, M. K., Yang, X., Adank, M. A., Ahearn, T., Aittomäki, K., Allen, J., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Aronson, K. J., Auer, P. L., Auvinen, P., Barrdahl, M., Beane Freeman, L. E., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Bernstein, L., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Bonanni, B., Børresen-Dale, A.-L., Brauch, H., Bremer, M., Brenner, H., Brentnall, A., Brock, I. W., Brooks-Wilson, A., Brucker, S. Y., Brüning, T., Burwinkel, B., Campa, D., Carter, B. D., Castelao, J. E., Chanock, S. J., Chlebowski, R., Christiansen, H., Clarke, C. L., Collée, J. M., Cordina-Duverger, E., Cornelissen, S., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Daly, M. B., Devilee, P., Dörk, T., dos-Santos-Silva, I., Dumont, M., Durcan, L., Dwek, M., Eccles, D. M., Ekici, A. B., Eliassen, A. H., Ellberg, C., Engel, C., Eriksson, M., Evans, D. G., Fasching, P. A., Figueroa, J., Fletcher, O., Flyger, H., Försti, A., Fritschi, L., Gabrielson, M., Gago-Dominguez, M., Gapstur, S. M., García-Sáenz, J. A., Gaudet, M. M., Georgoulias, V., Giles, G. G., Gilyazova, I. R., Glendon, G., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Grenaker Alnæs, G. I., Grip, M., Gronwald, J., Grundy, A., Guénel, P., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hamann, U., Hankinson, S. E., Harkness, E. F., Hart, S. N., He, W., Hein, A., Heyworth, J., Hillemanns, P., Hollestelle, A., Hooning, M. J., Hoover, R. N., Hopper, J. L., Howell, A., Huang, G., Humphreys, K., Hunter, D. J., Jakimovska, M., Jakubowska, A., Janni, W., John, E. M., Johnson, N., Jones, M. E., Jukkola-Vuorinen, A., Jung, A., Kaaks, R., Kaczmarek, K., Kataja, V., Keeman, R., Kerin, M. J., Khusnutdinova, E., Kiiski, J. I., Knight, J. A., Ko, Y.-D., Kosma, V.-M., Koutros, S., Kristensen, V. N., Krüger, U., Kühl, T., Lambrechts, D., Le Marchand, L., Lee, E., Lejbkowicz, F., Lilyquist, J., Lindblom, A., Lindström, S., Lissowska, J., Lo, W.-Y., Loibl, S., Long, J., Lubiński, J., Lux, M. P., MacInnis, R. J., Maishman, T., Makalic, E., Maleva Kostovska, I., Mannermaa, A., Manoukian, S., Margolin, S., Martens, J. W. M., Martinez, M. E., Mavroudis, D., McLean, C., Meindl, A., Menon, U., Middha, P., Miller, N., Moreno, F., Mulligan, A. M., Mulot, C., Muñoz-Garzon, V. M., Neuhausen, S. L., Nevanlinna, H., Neven, P., Newman, W. G., Nielsen, S. F., Nordestgaard, B. G., Norman, A., Offit, K., Olson, J. E., Olsson, H., Orr, N., Pankratz, V. S., Park-Simon, T.-W., Perez, J. I. A., Pérez-Barrios, C., Peterlongo, P., Peto, J., Pinchev, M., Plaseska-Karanfilska, D., Polley, E. C., Prentice, R., Presneau, N., Prokofyeva, D., Purrington, K., Pylkäs, K., Rack, B., Radice, P., Rau-Murthy, R., Rennert, G., Rennert, H. S., Rhenius, V., Robson, M., Romero, A., Ruddy, K. J., Ruebner, M., Saloustros, E., Sandler, D. P., Sawyer, E. J., Schmidt, D. F., Schmutzler, R. K., Schneeweiss, A., Schoemaker, M. J., Schumacher, F., Schürmann, P., Schwentner, L., Scott, C., Scott, R. J., Seynaeve, C., Shah, M., Sherman, M. E., Shrubsole, M. J., Shu, X.-O., Slager, S., Smeets, A., Sohn, C., Soucy, P., Southey, M. C., Spinelli, J. J., Stegmaier, C., Stone, J., Swerdlow, A. J., Tamimi, R. M., Tapper, W. J., Taylor, J. A., Terry, M. B., Thöne, K., Tollenaar, R. A. E. M., Tomlinson, I., Truong, T., Tzardi, M., Ulmer, H.-U., Untch, M., Vachon, C. M., van Veen, E. M., Vijai, J., Weinberg, C. R., Wendt, C., Whittemore, A. S., Wildiers, H., Willett, W., Winqvist, R., Wolk, A., Yang, X. R., Yannoukakos, D., Zhang, Y., Zheng, W., Ziogas, A., Dunning, A. M., Thompson, D. J., Chenevix-Trench, G., Chang-Claude, J., Schmidt, M. K., Hall, P., Milne, R. L., Pharoah, P. D. P., Antoniou, A. C., Chatterjee, N., Kraft, P., García-Closas, M., Simard, J., & Easton, D. F.
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2019-01
Volume
104
Issue
1
Pages
21-34
ISSN
0002-9297 (ISSN-L)
DOI
10.1016/j.ajhg.2018.11.002
OpenAlex
W2901952863
Cited by
1,097
References
6
FWCI
52.06
Type
journal article
Language
en
Open access
hybrid

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

How to cite

Cite CoChat for the checks on this page, and the paper for its own findings.

This page
CoChat. (2026). Citation check: Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. https://app.cochat.ai/papers/10.1016/j.ajhg.2018.11.002
The paper
Mavaddat, N., Michailidou, K., Dennis, J., Lush, M., Fachal, L., Lee, A., Tyrer, J. P., Chen, T.-H., Wang, Q., Bolla, M. K., Yang, X., Adank, M. A., Ahearn, T., Aittomäki, K., Allen, J., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., . . . Easton, D. F. (2019). Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2018.11.002

Data sources

Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.