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Threshold-Based Overlap of Breast Cancer High-Risk Classification Using Family History, Polygenic Risk Scores, and Traditional Risk Models in 180,398 Women

Title:	Threshold-Based Overlap of Breast Cancer High-Risk Classification Using Family History, Polygenic Risk Scores, and Traditional Risk Models in 180,398 Women
Authors:	Ho, Peh Joo; Loo, Christine Kim Yan; Lim, Ryan Jak Yang; Goh, Meng Huang; Abubakar, Mustapha; Ahearn, Thomas U.; Andrulis, Irene L.; Antonenkova, Natalia N.; Aronson, Kristan J.; Augustinsson, Annelie; Behrens, Sabine; Bodelon, Clara; Bogdanova, Natalia V.; Bolla, Manjeet K.; Brantley, Kristen D.; Brenner, Hermann; Byers, Helen; Camp, Nicola J.; Castelao, Jose E.; Cessna, Melissa H.; Chang-Claude, Jenny; Chanock, Stephen J.; Chenevix-Trench, Georgia; Choi, Ji-Yeob; Colonna, Sarah V.; Czene, Kamila; Daly, Mary B.; Derouane, Francoise; Dörk, Thilo; Eliassen, A. Heather; Engel, Christoph; Eriksson, Mikael; Evans, D. Gareth; Fletcher, Olivia; Fritschi, Lin; Gago-Dominguez, Manuela; Genkinger, Jeanine M.; Geurts-Giele, Willemina R. R.; Glendon, Gord; Hall, Per; Hamann, Ute; Ho, Cecilia Y. S.; Ho, Weang-Kee; Hooning, Maartje J.; Hoppe, Reiner; Howell, Anthony; Humphreys, Keith; Ito, Hidemi; Iwasaki, Motoki; Jakubowska, Anna; Jernström, Helena; John, Esther M.; Johnson, Nichola; Kang, Daehee; Kim, Sung-Won; Kitahara, Cari M.; Ko, Yon-Dschun; Kraft, Peter; Kwong, Ava; Lambrechts, Diether; Larsson, Susanna C.; Li, Shuai; Lindblom, Annika; Linet, Martha; Lissowska, Jolanta; Lophatananon, Artitaya; MacInnis, Robert J.; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Matsuo, Keitaro; Michailidou, Kyriaki; Milne, Roger L.; Mohd Taib, Nur Aishah; Muir, Kenneth R.; Murphy, Rachel A.; Newman, William G.; O'brien, Katie M.; Obi, Nadia; Olopade, Olufunmilayo I.; Panayiotidis, Mihalis I.; Park, Sue K.; Park-Simon, Tjoung-Won; Patel, Alpa V.; Peterlongo, Paolo; Plaseska-Karanfilska, Dijana; Pylkäs, Katri; Rashid, Muhammad U.; Rennert, Gad; Rodriguez, Juan; Saloustros, Emmanouil; Sandler, Dale P.; Sawyer, Elinor J.; Scott, Christopher G.; Shahi, Shamim; Shu, Xiao-Ou; Shulman, Katerina; Simard, Jacques; Southey, Melissa C.; Stone, Jennifer; Taylor, Jack A.; Teo, Soo-Hwang; Teras, Lauren R.; Terry, Mary Beth; Torres, Diana; Vachon, Celine M.; Houdt, Maxime Van; Verhoeven, Jelle; Weinberg, Clarice R.; Wolk, Alicja; Yamaji, Taiki; Yip, Cheng Har; Zheng, Wei; Hartman, Mikael; Li, Jingmei
Publisher Information:	Uppsala universitet, Medicinsk epidemiologi; ASTAR, Genome Inst Singapore, Singapore 138672, Singapore.;Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore 117549, Singapore.; ASTAR, Genome Inst Singapore, Singapore 138672, Singapore.; NCI, NIH, Dept Hlth & Human Serv, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA.; Lunenfeld Tanenbaum Res Inst Mt Sinai Hosp, Fred A Litwin Ctr Canc Genet, Toronto, ON M5G 1X5, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada.; NN Alexandrov Res Inst Oncol & Med Radiol, Minsk 223040, BELARUS.; Queens Univ, Sinclair Canc Res Inst, Dept Publ Hlth Sci, Kingston, ON K7L 3N6, Canada.; Lund Univ, Dept Clin Sci Lund, Oncol, S-22185 Lund, Sweden.; German Canc Res Ctr, Div Canc Epidemiol, D-69120 Heidelberg, Germany.; Amer Canc Soc, Dept Populat Sci, Atlanta, GA 30303 USA.; NN Alexandrov Res Inst Oncol & Med Radiol, Minsk 223040, BELARUS.;Hannover Med Sch, Dept Radiat Oncol, D-30625 Hannover, Germany.;Hannover Med Sch, Gynaecol Res Unit, D-30625 Hannover, Germany.; Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge CB1 8RN, England.; Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA.;Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02215 USA.; German Canc Res Ctr, Div Clin Epidemiol & Aging Res, D-69120 Heidelberg, Germany.;German Canc Consortium DKTK, German Canc Res Ctr DKFZ, D-69120 Heidelberg, Germany.; Univ Manchester, Sch Biol Sci, Div Evolut Infect & Genom, Manchester M13 9PT, England.; Univ Utah, Huntsman Canc Inst, Dept Internal Med, Salt Lake City, UT 84112 USA.; Complejo Hospitalario Univ Santiago, Inst Invest Sanitaria Santiago Compostela IDIS Fdn, SERGAS, Oncol & Genet Unit, Vigo 36312, Spain.; Intermt Healthcare, Salt Lake City, UT 84143 USA.; German Canc Res Ctr, Div Canc Epidemiol, D-69120 Heidelberg, Germany.;Univ Med Ctr Hamburg Eppendorf, Univ Canc Ctr Hamburg UCCH, Canc Epidemiol Grp, D-20251 Hamburg, Germany.; QIMR Berghofer Med Res Inst, Canc Res Program, Brisbane, Qld 4006, Australia.; Seoul Natl Univ, Grad Sch, Dept Biomed Sci, Seoul 03080, South Korea.;Seoul Natl Univ, Canc Res Inst, Seoul 03080, South Korea.;Seoul Natl Univ, Med Res Ctr, Inst Hlth Policy & Management, Seoul, South Korea.; Karolinska Inst, Dept Med Epidemiol & Biostat, S-17165 Stockholm, Sweden.; Fox Chase Canc Ctr, Dept Clin Genet, Philadelphia, PA 19111 USA.; Univ Hosp Leuven, Leuven Canc Inst, Leuven Multidisciplinary Breast Ctr, Dept Oncol, B-3000 Leuven, Belgium.; Hannover Med Sch, Gynaecol Res Unit, D-30625 Hannover, Germany.; Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA.;Brigham & Womens Hosp, Dept Med, Channing Div Network Med, Boston, MA 02115 USA.;Harvard Med Sch, Boston, MA 02115 USA.;Harvard TH Chan Sch Publ Hlth, Dept Nutr, Boston, MA 02115 USA.; Univ Leipzig, Inst Med Informat Stat & Epidemiol, D-04107 Leipzig, Germany.;Univ Leipzig, LIFE Leipzig Res Ctr Civilizat Dis, D-04103 Leipzig, Germany.; Univ Manchester, Sch Biol Sci, Div Evolut Infect & Genom, Manchester M13 9PT, England.;Manchester Univ NHS Fdn Trust, St Marys Hosp, Manchester Ctr Genom Med, Manchester M13 9WL, England.; Inst Canc Res, Breast Canc Now Toby Robins Res Ctr, London SW7 3RP, England.; Curtin Univ, Sch Populat Hlth, Perth, WA 6102, Australia.; Complejo Hospitalario Univ Santiago, Fdn Inst Invest Sanitaria Santiago Compostela FIDI, Serv Gallego Salud SERGAS, Canc Genet & Epidemiol Grp,Genom Med Grp, Santiago De Compostela 15706, Spain.; Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY 10032 USA.;Herbert Irving Comprehens Canc Ctr, New York, NY 10032 USA.; Erasmus Univ, Dept Clin Genet, Med Ctr, NL-3015 CN Rotterdam, Netherlands.; Lunenfeld Tanenbaum Res Inst Mt Sinai Hosp, Fred A Litwin Ctr Canc Genet, Toronto, ON M5G 1X5, Canada.; German Canc Res Ctr, Mol Genet Breast Canc, D-69120 Heidelberg, Germany.; Hong Kong Sanat & Hosp, Dept Mol Pathol, Hong Kong, Peoples R China.; Univ Nottingham Malaysia, Fac Sci & Engn, Sch Math Sci, Semenyih 43500, Selangor, Malaysia.;Canc Res Malaysia, Subang Jaya 47500, Selangor, Malaysia.; Erasmus Univ, Dept Clin Genet, Med Ctr, NL-3015 CN Rotterdam, Netherlands.;Erasmus MC Canc Inst, Dept Med Oncol, NL-3015 GD Rotterdam, Netherlands.; Dr Margarete F Bosch Inst Clin Pharmacol, D-70376 Stuttgart, Germany.;Univ Tubingen, D-72074 Tubingen, Germany.; Univ Manchester, Div Canc Sci, Manchester M13 9PL, England.; Aichi Canc Ctr Res Inst, Div Canc Informat & Control, Nagoya 4648681, Japan.;Nagoya Univ, Grad Sch Med, Div Canc Epidemiol, Nagoya 4668550, Japan.; Natl Canc Ctr, Inst Canc Control, Div Epidemiol, Tokyo 1040045, Japan.; Pomeranian Med Univ, Independent Lab Mol Biol & Genet Diagnost, PL-171252 Szczecin, Poland.;Pomeranian Med Univ, Int Hereditary Canc Ctr, Dept Genet & Pathol, PL-171252 Szczecin, Poland.; Stanford Univ, Sch Med, Dept Epidemiol & Populat Hlth, Stanford, CA 94305 USA.;Stanford Univ, Dept Med, Div Oncol, Stanford Canc Inst,Sch Med, Stanford, CA 94304 USA.; Seoul Natl Univ, Canc Res Inst, Seoul 03080, South Korea.;Seoul Natl Univ, Coll Med, Dept Prevent Med, Seoul 03080, South Korea.; Daerim St Marys Hosp, Dept Surg, Seoul 07442, South Korea.; NCI, Div Canc Epidemiol & Genet, Radiat Epidemiol Branch, Bethesda, MD 20892 USA.; Johanniter GmbH Bonn, Johanniter Krankenhaus, Dept Internal Med, D-53177 Bonn, Germany.; Hong Kong Hereditary Breast Canc Family Registry, Hong Kong, Peoples R China.;Univ Hong Kong, Dept Surg, Hong Kong, Peoples R China.;Hong Kong Sanat & Hosp, Dept Surg & Canc Genet Ctr, Hong Kong, Peoples R China.; Katholieke Univ Leuven, Dept Human Genet, Lab Genet Cognit, B-3000 Leuven, Belgium.;Vlaams Inst Biotechnol VIB, VIB Ctr Canc Biol, B-3001 Leuven, Belgium.; Karolinska Inst, Inst Environm Med, S-17177 Stockholm, Sweden.; Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge CB1 8RN, England.;Univ Melbourne, Ctr Epidemiol & Biostat, Melbourne Sch Populat & Global Hlth, Melbourne, Vic 3010, Australia.;Monash Univ, Sch Clin Sci Monash Hlth, Precis Med, Clayton, Vic 3168, Australia.; Karolinska Inst, Dept Mol Med & Surg, S-17176 Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet & Genom, S-17176 Stockholm, Sweden.; M Sklodowska Curie Natl Res Inst Oncol, Dept Canc Epidemiol & Prevent, PL-02034 Warsaw, Poland.; Univ Manchester, Fac Biol Med & Hlth, Sch Hlth Sci, Div Populat Hlth Hlth Serv Res & Primary Care, Manchester M13 9PL, England.; Univ Melbourne, Ctr Epidemiol & Biostat, Melbourne Sch Populat & Global Hlth, Melbourne, Vic 3010, Australia.;Canc Council Victoria, Canc Epidemiol Div, Melbourne, Vic 3004, Australia.; Univ Eastern Finland, Translat Canc Res Area, Kuopio 70210, Finland.;Univ Eastern Finland, Inst Clin Med Pathol & Forens Med, Kuopio 70210, Finland.;Kuopio Univ Hosp, Biobank Eastern Finland, Kuopio 70210, Finland.; Fdn IRCCS Ist Nazl Tumori Milano, Dept Med Oncol & Hematol, Unit Med Genet, I-20133 Milan, Italy.; Karolinska Inst, Sodersjukhuset, Dept Clin Sci & Educ, S-118 83 Stockholm, Sweden.; Nagoya Univ, Grad Sch Med, Div Canc Epidemiol, Nagoya 4668550, Japan.;Aichi Canc Ctr Res Inst, Div Canc Epidemiol & Prevent, Nagoya 4648681, Japan.; Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge CB1 8RN, England.;Cyprus Inst Neurol & Genet, Biostat Unit, Nicosia 2371, Cyprus.; Univ Melbourne, Ctr Epidemiol & Biostat, Melbourne Sch Populat & Global Hlth, Melbourne, Vic 3010, Australia.;Monash Univ, Sch Clin Sci Monash Hlth, Precis Med, Clayton, Vic 3168, Australia.;Canc Council Victoria, Canc Epidemiol Div, Melbourne, Vic 3004, Australia.; Univ Malaya, Fac Med, UM Canc Res Inst, Dept Surg, Kuala Lumpur 50603, Malaysia.; Univ British Columbia, Sch Populat & Publ Hlth, Vancouver, BC V6T 1Z4, Canada.;BC Canc Agcy, Canc Control Res, Vancouver, BC V5Z 1L3, Canada.; NIH, Natl Inst Environm Hlth Sci, Epidemiol Branch, Res Triangle Pk, Durham, NC USA.; Univ Med Ctr Hamburg Eppendorf, Inst Occupat & Maritime Med, D-20246 Hamburg, Germany.;Univ Med Ctr Hamburg Eppendorf, Inst Med Biometry & Epidemiol, D-20246 Hamburg, Germany.; Univ Chicago, Ctr Clin Canc Genet, Chicago, IL 60637 USA.; Cyprus Inst Neurol & Genet, Dept Canc Genet Therapeut & Ultrastruct Pathol, CY-2371 Nicosia, Cyprus.;Mississippi State Univ, Coll Vet Med, Dept Comparat Biomed Sci, Starkville, MS 39762 USA.; Seoul Natl Univ, Canc Res Inst, Seoul 03080, South Korea.;Seoul Natl Univ, Coll Med, Dept Prevent Med, Seoul 03080, South Korea.;Seoul Natl Univ, Coll Med, Integrated Major Innovat Med Sci, Seoul 03080, South Korea.; European Inst Oncol IRCCS, Lab Hematol Oncol, I-20133 Milan, Italy.; Macedonian Acad Sci & Arts MASA, Res Ctr Genet Engn & Biotechnol Georgi D Efremov, Skopje 1000, North Macedonia.; Univ Oulu, Bioctr Oulu, Canc & Translat Med Res Unit, Lab Canc Genet & Tumor Biol, Oulu 90220, Finland.;Northern Finland Lab Ctr, Lab Canc Genet & Tumor Biol, Oulu 90220, Finland.; German Canc Res Ctr, Mol Genet Breast Canc, D-69120 Heidelberg, Germany.;Shaukat Khanum Mem Canc Hosp & Res Ctr SKMCH & RC, Dept Basic Sci Res, Lahore, Pakistan.; Technion Israel Inst Technol & Assoc Promot Res Pr, Fac Med, IL-35254 Haifa, Israel.; Univ Thessaly, Fac Med, Sch Hlth Sci, Div Oncol, Larisa 41110, Greece.; Kings Coll London, Comprehens Canc Ctr, Sch Canc & Pharmaceut Sci, Guys Campus, London SE1 1UL, England.; Mayo Clin, Dept Quantitat Hlth Sci, Div Clin Trials & Biostat, Rochester, MN 55905 USA.; Vanderbilt Univ, Sch Med, Vanderbilt Ingram Canc Ctr, Div Epidemiol,Dept Med,Vanderbilt Epidemiol Ctr, Nashville, TN 37203 USA.; Haifa & Western Galilee Dist, Clalit Reg Oncol Unit, IL-3436212 Haifa, Israel.; Ctr Hospitalier Univ Qubec, Genom Ctr, Univ Laval Res Ctr, Quebec City, PQ G1V 4G2, Canada.; Monash Univ, Sch Clin Sci Monash Hlth, Precis Med, Clayton, Vic 3168, Australia.;Canc Council Victoria, Canc Epidemiol Div, Melbourne, Vic 3004, Australia.;Univ Melbourne, Dept Clin Pathol, Melbourne, Vic 3010, Australia.; Univ Melbourne, Ctr Epidemiol & Biostat, Melbourne Sch Populat & Global Hlth, Melbourne, Vic 3010, Australia.;Univ Western Australia, Sch Populat & Global Hlth, Genet Epidemiol Grp, Perth, WA 6009, Australia.; NIH, Natl Inst Environm Hlth Sci, Epidemiol Branch, Res Triangle Pk, Durham, NC USA.;NIH, Natl Inst Environm Hlth Sci, Epigenet & Stem Cell Biol Lab, Res Triangle Pk, Durham, NC 27709 USA.; Canc Res Malaysia, Subang Jaya 47500, Selangor, Malaysia.;Univ Malaya, Fac Med, UM Canc Res Inst, Dept Surg, Kuala Lumpur 50603, Malaysia.; Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY 10032 USA.; German Canc Res Ctr, Mol Genet Breast Canc, D-69120 Heidelberg, Germany.;Pontificia Univ Javeriana, Inst Human Genet, Bogota 110231, Colombia.; Mayo Clin, Dept Quantitat Hlth Sci, Div Epidemiol, Rochester, MN 55905 USA.; Univ Hosp Leuven, Dept Gynecol Oncol, B-3000 Leuven, Belgium.; NIH, Natl Inst Environm Hlth Sci, Biostat & Computat Biol Branch, Res Triangle Pk, Durham, NC 27709 USA.; Univ Malaya, Fac Med, UM Canc Res Inst, Dept Surg, Kuala Lumpur 50603, Malaysia.;Subang Jaya Med Ctr, Subang Jaya 47500, Selangor, Malaysia.; Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore 117549, Singapore.;Natl Univ Hlth Syst, Dept Surg, Singapore 119228, Singapore.;Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Surg, Singapore 117600, Singapore.; ASTAR, Genome Inst Singapore, Singapore 138672, Singapore.;Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Surg, Singapore 117600, Singapore.;Natl Canc Ctr, Singapore Hlth Serv SingHealth, Singapore 168583, Singapore.
Publication Year:	2025
Collection:	Uppsala University: Publications (DiVA)
Subject Terms:	breast cancer; ductal carcinoma in situ (DCIS); polygenic risk score (PRS); Gail model; risk stratification; BRCA1; BRCA2; risk-based screening; Cancer and Oncology; Cancer och onkologi; Medical Genetics and Genomics; Medicinsk genetik och genomik
Description:	Background: Breast cancer polygenic risk scores (PRS) and traditional risk models (e.g., the Gail model [Gail]) are known to contribute largely independent information, but it is unclear how the overlap varies by ancestry, age, disease type (invasive breast cancer, DCIS), and risk threshold. Methods: In a retrospective case-control study, we evaluated risk prediction performance in 180,398 women (161,849 of European ancestry; 18,549 of Asian ancestry). Odds ratios (ORs) from logistic regression models and the area under the receiver operating characteristic curve (AUC) were estimated. Results: PRS for invasive disease showed a stronger association in younger (
Document Type:	article in journal/newspaper
File Description:	application/pdf
Language:	English
Relation:	Cancers, 2072-6694, 2025, 17:21; PMID 41228354; ISI:001614937300001
DOI:	10.3390/cancers17213561
Availability:	http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-572351; https://doi.org/10.3390/cancers17213561
Rights:	info:eu-repo/semantics/openAccess
Accession Number:	edsbas.2C9421
Database:	BASE