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Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

Overview of attention for article published in JNCI: Journal of the National Cancer Institute, March 2017
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (86th percentile)
  • Good Attention Score compared to outputs of the same age and source (69th percentile)

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Citations

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278 Mendeley
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Title
Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers
Published in
JNCI: Journal of the National Cancer Institute, March 2017
DOI 10.1093/jnci/djw302
Pubmed ID
Authors

Karoline B. Kuchenbaecker, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Penny Soucy, Sue Healey, Joe Dennis, Michael Lush, Mark Robson, Amanda B. Spurdle, Susan J. Ramus, Nasim Mavaddat, Mary Beth Terry, Susan L. Neuhausen, Ute Hamann, Melissa Southey, Esther M. John, Wendy K. Chung, Mary B. Daly, Saundra S. Buys, David E. Goldgar, Cecilia M. Dorfling, Elizabeth J. van Rensburg, Yuan Chun Ding, Bent Ejlertsen, Anne-Marie Gerdes, Thomas V. O. Hansen, Susan Slager, Emily Hallberg, Javier Benitez, Ana Osorio, Nancy Cohen, William Lawler, Jeffrey N. Weitzel, Paolo Peterlongo, Valeria Pensotti, Riccardo Dolcetti, Monica Barile, Bernardo Bonanni, Jacopo Azzollini, Siranoush Manoukian, Bernard Peissel, Paolo Radice, Antonella Savarese, Laura Papi, Giuseppe Giannini, Florentia Fostira, Irene Konstantopoulou, Julian Adlard, Carole Brewer, Jackie Cook, Rosemarie Davidson, Diana Eccles, Ros Eeles, Steve Ellis, Debra Frost, Shirley Hodgson, Louise Izatt, Fiona Lalloo, Kai-ren Ong, Andrew K. Godwin, Norbert Arnold, Bernd Dworniczak, Christoph Engel, Andrea Gehrig, Eric Hahnen, Jan Hauke, Karin Kast, Alfons Meindl, Dieter Niederacher, Rita Katharina Schmutzler, Raymonda Varon-Mateeva, Shan Wang-Gohrke, Barbara Wappenschmidt, Laure Barjhoux, Marie-Agnès Collonge-Rame, Camille Elan, Lisa Golmard, Emmanuelle Barouk-Simonet, Fabienne Lesueur, Sylvie Mazoyer, Joanna Sokolowska, Dominique Stoppa-Lyonnet, Claudine Isaacs, Kathleen B. M. Claes, Bruce Poppe, Miguel de la Hoya, Vanesa Garcia-Barberan, Kristiina Aittomäki, Heli Nevanlinna, Margreet G. E. M. Ausems, J. L. de Lange, Encarna B. Gómez Garcia, Frans B. L. Hogervorst, Carolien M. Kets, Hanne E. J. Meijers-Heijboer, Jan C. Oosterwijk, Matti A. Rookus, Christi J. van Asperen, Ans M. W. van den Ouweland, Helena C. van Doorn, Theo A. M. van Os, Ava Kwong, Edith Olah, Orland Diez, Joan Brunet, Conxi Lazaro, Alex Teulé, Jacek Gronwald, Anna Jakubowska, Katarzyna Kaczmarek, Jan Lubinski, Grzegorz Sukiennicki, Rosa B. Barkardottir, Jocelyne Chiquette, Simona Agata, Marco Montagna, Manuel R. Teixeira, Sue Kyung Park, Curtis Olswold, Marc Tischkowitz, Lenka Foretova, Pragna Gaddam, Joseph Vijai, Georg Pfeiler, Christine Rappaport-Fuerhauser, Christian F. Singer, Muy-Kheng M. Tea, Mark H. Greene, Jennifer T. Loud, Gad Rennert, Evgeny N. Imyanitov, Peter J. Hulick, John L. Hays, Marion Piedmonte, Gustavo C. Rodriguez, Julie Martyn, Gord Glendon, Anna Marie Mulligan, Irene L. Andrulis, Amanda Ewart Toland, Uffe Birk Jensen, Torben A. Kruse, Inge Sokilde Pedersen, Mads Thomassen, Maria A. Caligo, Soo-Hwang Teo, Raanan Berger, Eitan Friedman, Yael Laitman, Brita Arver, Ake Borg, Hans Ehrencrona, Johanna Rantala, Olufunmilayo I. Olopade, Patricia A. Ganz, Robert L. Nussbaum, Angela R. Bradbury, Susan M. Domchek, Katherine L. Nathanson, Banu K. Arun, Paul James, Beth Y. Karlan, Jenny Lester, Jacques Simard, Paul D. P. Pharoah, Kenneth Offit, Fergus J. Couch, Georgia Chenevix-Trench, Douglas F. Easton, Antonis C. Antoniou

Abstract

Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these are also associated with risk of BC or OC for women who carry a pathogenic mutation in the high-risk BC and OC genes BRCA1 or BRCA2. The combined effects of these variants on BC or OC risk for BRCA1 and BRCA2 mutation carriers have not yet been assessed while their clinical management could benefit from improved personalized risk estimates. We constructed polygenic risk scores (PRS) using BC and OC susceptibility SNPs identified through population-based GWAS: for BC (overall, estrogen receptor [ER]-positive, and ER-negative) and for OC. Using data from 15 252 female BRCA1 and 8211 BRCA2 carriers, the association of each PRS with BC or OC risk was evaluated using a weighted cohort approach, with time to diagnosis as the outcome and estimation of the hazard ratios (HRs) per standard deviation increase in the PRS. The PRS for ER-negative BC displayed the strongest association with BC risk in BRCA1 carriers (HR = 1.27, 95% confidence interval [CI] = 1.23 to 1.31, P =  8.2×10 -53 ). In BRCA2 carriers, the strongest association with BC risk was seen for the overall BC PRS (HR = 1.22, 95% CI = 1.17 to 1.28, P =  7.2×10 -20 ). The OC PRS was strongly associated with OC risk for both BRCA1 and BRCA2 carriers. These translate to differences in absolute risks (more than 10% in each case) between the top and bottom deciles of the PRS distribution; for example, the OC risk was 6% by age 80 years for BRCA2 carriers at the 10th percentile of the OC PRS compared with 19% risk for those at the 90th percentile of PRS. BC and OC PRS are predictive of cancer risk in BRCA1 and BRCA2 carriers. Incorporation of the PRS into risk prediction models has promise to better inform decisions on cancer risk management.

X Demographics

X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 278 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 278 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 43 15%
Student > Master 30 11%
Researcher 29 10%
Other 20 7%
Student > Postgraduate 14 5%
Other 49 18%
Unknown 93 33%
Readers by discipline Count As %
Medicine and Dentistry 58 21%
Biochemistry, Genetics and Molecular Biology 55 20%
Agricultural and Biological Sciences 21 8%
Nursing and Health Professions 5 2%
Immunology and Microbiology 4 1%
Other 30 11%
Unknown 105 38%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 16. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 14 December 2020.
All research outputs
#2,310,024
of 25,411,814 outputs
Outputs from JNCI: Journal of the National Cancer Institute
#1,525
of 7,850 outputs
Outputs of similar age
#42,702
of 321,101 outputs
Outputs of similar age from JNCI: Journal of the National Cancer Institute
#30
of 97 outputs
Altmetric has tracked 25,411,814 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 90th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,850 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 21.2. This one has done well, scoring higher than 80% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 321,101 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 86% of its contemporaries.
We're also able to compare this research output to 97 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 69% of its contemporaries.