Literature DB >> 35554533

Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach.

Guimin Gao1, Fangyuan Zhao1, Thomas U Ahearn2, Kathryn L Lunetta3, Melissa A Troester4, Zhaohui Du5, Temidayo O Ogundiran6, Oladosu Ojengbede7, William Blot8, Katherine L Nathanson9, Susan M Domchek9, Barbara Nemesure10, Anselm Hennis10,11, Stefan Ambs12, Julian McClellan1, Mark Nie1, Kimberly Bertrand13, Gary Zirpoli13, Song Yao14, Andrew F Olshan4, Jeannette T Bensen4, Elisa V Bandera15, Sarah Nyante16, David V Conti17, Michael F Press18, Sue A Ingles17, Esther M John19, Leslie Bernstein20, Jennifer J Hu21, Sandra L Deming-Halverson8, Stephen J Chanock2, Regina G Ziegler2, Jorge L Rodriguez-Gil22, Lara E Sucheston-Campbell23, Dale P Sandler24, Jack A Taylor24, Cari M Kitahara25, Katie M O'Brien24, Manjeet K Bolla26, Joe Dennis26, Alison M Dunning27, Douglas F Easton26,27, Kyriaki Michailidou28, Paul D P Pharoah26,27, Qin Wang26, Jonine Figueroa29,30, Richard Biritwum31, Ernest Adjei32, Seth Wiafe33, Christine B Ambrosone14, Wei Zheng8, Olufunmilayo I Olopade34, Montserrat García-Closas2, Julie R Palmer13, Christopher A Haiman17, Dezheng Huo1,34.   

Abstract

Polygenic risk scores (PRSs) are useful for predicting breast cancer risk, but the prediction accuracy of existing PRSs in women of African ancestry (AA) remains relatively low. We aim to develop optimal PRSs for the prediction of overall and estrogen receptor (ER) subtype-specific breast cancer risk in AA women. The AA dataset comprised 9235 cases and 10 184 controls from four genome-wide association study (GWAS) consortia and a GWAS study in Ghana. We randomly divided samples into training and validation sets. We built PRSs using individual-level AA data by a forward stepwise logistic regression and then developed joint PRSs that combined (1) the PRSs built in the AA training dataset and (2) a 313-variant PRS previously developed in women of European ancestry. PRSs were evaluated in the AA validation set. For overall breast cancer, the odds ratio per standard deviation of the joint PRS in the validation set was 1.34 [95% confidence interval (CI): 1.27-1.42] with the area under receiver operating characteristic curve (AUC) of 0.581. Compared with women with average risk (40th-60th PRS percentile), women in the top decile of the PRS had a 1.98-fold increased risk (95% CI: 1.63-2.39). For PRSs of ER-positive and ER-negative breast cancer, the AUCs were 0.608 and 0.576, respectively. Compared with existing methods, the proposed joint PRSs can improve prediction of breast cancer risk in AA women.
© The Author(s) 2022. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

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Year:  2022        PMID: 35554533      PMCID: PMC9476624          DOI: 10.1093/hmg/ddac102

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   5.121


  42 in total

1.  Performance of common genetic variants in breast-cancer risk models.

Authors:  Sholom Wacholder; Patricia Hartge; Ross Prentice; Montserrat Garcia-Closas; Heather Spencer Feigelson; W Ryan Diver; Michael J Thun; David G Cox; Susan E Hankinson; Peter Kraft; Bernard Rosner; Christine D Berg; Louise A Brinton; Jolanta Lissowska; Mark E Sherman; Rowan Chlebowski; Charles Kooperberg; Rebecca D Jackson; Dennis W Buckman; Peter Hui; Ruth Pfeiffer; Kevin B Jacobs; Gilles D Thomas; Robert N Hoover; Mitchell H Gail; Stephen J Chanock; David J Hunter
Journal:  N Engl J Med       Date:  2010-03-18       Impact factor: 91.245

Review 2.  Clinical use of current polygenic risk scores may exacerbate health disparities.

Authors:  Alicia R Martin; Masahiro Kanai; Yoichiro Kamatani; Yukinori Okada; Benjamin M Neale; Mark J Daly
Journal:  Nat Genet       Date:  2019-03-29       Impact factor: 38.330

3.  A Generalized Sequential Bonferroni Procedure for GWAS in Admixed Populations Incorporating Admixture Mapping Information into Association Tests.

Authors:  Wenan Chen; Chunfeng Ren; Huaizhen Qin; Kellie J Archer; Weiwei Ouyang; Nianjun Liu; Xiangning Chen; Xingguang Luo; Xiaofeng Zhu; Shumei Sun; Guimin Gao
Journal:  Hum Hered       Date:  2015-06-13       Impact factor: 0.444

Review 4.  Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future.

Authors:  Jenna Lilyquist; Kathryn J Ruddy; Celine M Vachon; Fergus J Couch
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2018-01-30       Impact factor: 4.254

5.  Prediction of breast cancer risk based on profiling with common genetic variants.

Authors:  Nasim Mavaddat; Paul D P Pharoah; Kyriaki Michailidou; Jonathan Tyrer; Mark N Brook; Manjeet K Bolla; Qin Wang; Joe Dennis; Alison M Dunning; Mitul Shah; Robert Luben; Judith Brown; Stig E Bojesen; Børge G Nordestgaard; Sune F Nielsen; Henrik Flyger; Kamila Czene; Hatef Darabi; Mikael Eriksson; Julian Peto; Isabel Dos-Santos-Silva; Frank Dudbridge; Nichola Johnson; Marjanka K Schmidt; Annegien Broeks; Senno Verhoef; Emiel J Rutgers; Anthony Swerdlow; Alan Ashworth; Nick Orr; Minouk J Schoemaker; Jonine Figueroa; Stephen J Chanock; Louise Brinton; Jolanta Lissowska; Fergus J Couch; Janet E Olson; Celine Vachon; Vernon S Pankratz; Diether Lambrechts; Hans Wildiers; Chantal Van Ongeval; Erik van Limbergen; Vessela Kristensen; Grethe Grenaker Alnæs; Silje Nord; Anne-Lise Borresen-Dale; Heli Nevanlinna; Taru A Muranen; Kristiina Aittomäki; Carl Blomqvist; Jenny Chang-Claude; Anja Rudolph; Petra Seibold; Dieter Flesch-Janys; Peter A Fasching; Lothar Haeberle; Arif B Ekici; Matthias W Beckmann; Barbara Burwinkel; Frederik Marme; Andreas Schneeweiss; Christof Sohn; Amy Trentham-Dietz; Polly Newcomb; Linda Titus; Kathleen M Egan; David J Hunter; Sara Lindstrom; Rulla M Tamimi; Peter Kraft; Nazneen Rahman; Clare Turnbull; Anthony Renwick; Sheila Seal; Jingmei Li; Jianjun Liu; Keith Humphreys; Javier Benitez; M Pilar Zamora; Jose Ignacio Arias Perez; Primitiva Menéndez; Anna Jakubowska; Jan Lubinski; Katarzyna Jaworska-Bieniek; Katarzyna Durda; Natalia V Bogdanova; Natalia N Antonenkova; Thilo Dörk; Hoda Anton-Culver; Susan L Neuhausen; Argyrios Ziogas; Leslie Bernstein; Peter Devilee; Robert A E M Tollenaar; Caroline Seynaeve; Christi J van Asperen; Angela Cox; Simon S Cross; Malcolm W R Reed; Elza Khusnutdinova; Marina Bermisheva; Darya Prokofyeva; Zalina Takhirova; Alfons Meindl; Rita K Schmutzler; Christian Sutter; Rongxi Yang; Peter Schürmann; Michael Bremer; Hans Christiansen; Tjoung-Won Park-Simon; Peter Hillemanns; Pascal Guénel; Thérèse Truong; Florence Menegaux; Marie Sanchez; Paolo Radice; Paolo Peterlongo; Siranoush Manoukian; Valeria Pensotti; John L Hopper; Helen Tsimiklis; Carmel Apicella; Melissa C Southey; Hiltrud Brauch; Thomas Brüning; Yon-Dschun Ko; Alice J Sigurdson; Michele M Doody; Ute Hamann; Diana Torres; Hans-Ulrich Ulmer; Asta Försti; Elinor J Sawyer; Ian Tomlinson; Michael J Kerin; Nicola Miller; Irene L Andrulis; Julia A Knight; Gord Glendon; Anna Marie Mulligan; Georgia Chenevix-Trench; Rosemary Balleine; Graham G Giles; Roger L Milne; Catriona McLean; Annika Lindblom; Sara Margolin; Christopher A Haiman; Brian E Henderson; Fredrick Schumacher; Loic Le Marchand; Ursula Eilber; Shan Wang-Gohrke; Maartje J Hooning; Antoinette Hollestelle; Ans M W van den Ouweland; Linetta B Koppert; Jane Carpenter; Christine Clarke; Rodney Scott; Arto Mannermaa; Vesa Kataja; Veli-Matti Kosma; Jaana M Hartikainen; Hermann Brenner; Volker Arndt; Christa Stegmaier; Aida Karina Dieffenbach; Robert Winqvist; Katri Pylkäs; Arja Jukkola-Vuorinen; Mervi Grip; Kenneth Offit; Joseph Vijai; Mark Robson; Rohini Rau-Murthy; Miriam Dwek; Ruth Swann; Katherine Annie Perkins; Mark S Goldberg; France Labrèche; Martine Dumont; Diana M Eccles; William J Tapper; Sajjad Rafiq; Esther M John; Alice S Whittemore; Susan Slager; Drakoulis Yannoukakos; Amanda E Toland; Song Yao; Wei Zheng; Sandra L Halverson; Anna González-Neira; Guillermo Pita; M Rosario Alonso; Nuria Álvarez; Daniel Herrero; Daniel C Tessier; Daniel Vincent; Francois Bacot; Craig Luccarini; Caroline Baynes; Shahana Ahmed; Mel Maranian; Catherine S Healey; Jacques Simard; Per Hall; Douglas F Easton; Montserrat Garcia-Closas
Journal:  J Natl Cancer Inst       Date:  2015-04-08       Impact factor: 13.506

6.  Leveraging functional annotations in genetic risk prediction for human complex diseases.

Authors:  Yiming Hu; Qiongshi Lu; Ryan Powles; Xinwei Yao; Can Yang; Fang Fang; Xinran Xu; Hongyu Zhao
Journal:  PLoS Comput Biol       Date:  2017-06-08       Impact factor: 4.475

7.  Recruiting population controls for case-control studies in sub-Saharan Africa: The Ghana Breast Health Study.

Authors:  Sarah J Nyante; Richard Biritwum; Jonine Figueroa; Barry Graubard; Baffour Awuah; Beatrice Wiafe Addai; Joel Yarney; Joe Nat Clegg-Lamptey; Daniel Ansong; Kofi Nyarko; Seth Wiafe; Joseph Oppong; Isaac Boakye; Michelle Brotzman; Robertson Adjei; Lucy T Afriyie; Montserrat Garcia-Closas; Louise A Brinton
Journal:  PLoS One       Date:  2019-04-16       Impact factor: 3.240

8.  Improved polygenic prediction by Bayesian multiple regression on summary statistics.

Authors:  Luke R Lloyd-Jones; Jian Zeng; Julia Sidorenko; Loïc Yengo; Gerhard Moser; Kathryn E Kemper; Huanwei Wang; Zhili Zheng; Reedik Magi; Tõnu Esko; Andres Metspalu; Naomi R Wray; Michael E Goddard; Jian Yang; Peter M Visscher
Journal:  Nat Commun       Date:  2019-11-08       Impact factor: 14.919

Review 9.  The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers.

Authors:  Christopher I Amos; Joe Dennis; Zhaoming Wang; Jinyoung Byun; Fredrick R Schumacher; Simon A Gayther; Graham Casey; David J Hunter; Thomas A Sellers; Stephen B Gruber; Alison M Dunning; Kyriaki Michailidou; Laura Fachal; Kimberly Doheny; Amanda B Spurdle; Yafang Li; Xiangjun Xiao; Jane Romm; Elizabeth Pugh; Gerhard A Coetzee; Dennis J Hazelett; Stig E Bojesen; Charlisse Caga-Anan; Christopher A Haiman; Ahsan Kamal; Craig Luccarini; Daniel Tessier; Daniel Vincent; François Bacot; David J Van Den Berg; Stefanie Nelson; Stephen Demetriades; David E Goldgar; Fergus J Couch; Judith L Forman; Graham G Giles; David V Conti; Heike Bickeböller; Angela Risch; Melanie Waldenberger; Irene Brüske-Hohlfeld; Belynda D Hicks; Hua Ling; Lesley McGuffog; Andrew Lee; Karoline Kuchenbaecker; Penny Soucy; Judith Manz; Julie M Cunningham; Katja Butterbach; Zsofia Kote-Jarai; Peter Kraft; Liesel FitzGerald; Sara Lindström; Marcia Adams; James D McKay; Catherine M Phelan; Sara Benlloch; Linda E Kelemen; Paul Brennan; Marjorie Riggan; Tracy A O'Mara; Hongbing Shen; Yongyong Shi; Deborah J Thompson; Marc T Goodman; Sune F Nielsen; Andrew Berchuck; Sylvie Laboissiere; Stephanie L Schmit; Tameka Shelford; Christopher K Edlund; Jack A Taylor; John K Field; Sue K Park; Kenneth Offit; Mads Thomassen; Rita Schmutzler; Laura Ottini; Rayjean J Hung; Jonathan Marchini; Ali Amin Al Olama; Ulrike Peters; Rosalind A Eeles; Michael F Seldin; Elizabeth Gillanders; Daniela Seminara; Antonis C Antoniou; Paul D P Pharoah; Georgia Chenevix-Trench; Stephen J Chanock; Jacques Simard; Douglas F Easton
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2016-10-03       Impact factor: 4.254

10.  SNPs and breast cancer risk prediction for African American and Hispanic women.

Authors:  Richard Allman; Gillian S Dite; John L Hopper; Ora Gordon; Athena Starlard-Davenport; Rowan Chlebowski; Charles Kooperberg
Journal:  Breast Cancer Res Treat       Date:  2015-11-20       Impact factor: 4.872

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