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

被引：13

作者：

Gao, Guimin ^{[1
]}

Zhao, Fangyuan ^{[1
]}

Ahearn, Thomas U. ^{[2
]}

Lunetta, Kathryn L. ^{[3
]}

Troester, Melissa A. ^{[4
]}

Du, Zhaohui ^{[5
]}

Ogundiran, Temidayo O. ^{[6
]}

Ojengbede, Oladosu ^{[7
]}

Blot, William ^{[8
]}

Nathanson, Katherine L. ^{[9
]}

Domchek, Susan M. ^{[9
]}

Nemesure, Barbara ^{[10
]}

Hennis, Anselm ^{[10
,11
]}

Ambs, Stefan ^{[12
]}

McClellan, Julian ^{[1
]}

Nie, Mark ^{[1
]}

Bertrand, Kimberly ^{[13
]}

Zirpoli, Gary ^{[13
]}

Yao, Song ^{[14
]}

Olshan, Andrew F. ^{[4
]}

Bensen, Jeannette T. ^{[4
]}

Bandera, Elisa, V ^{[15
]}

Nyante, Sarah ^{[16
]}

Conti, David, V ^{[17
]}

Press, Michael F.

Ingles, Sue A. ^{[17
]}

John, Esther M. ^{[18
,19
,20
]}

Bernstein, Leslie ^{[21
]}

Hu, Jennifer J. ^{[22
]}

Deming-Halverson, Sandra L. ^{[8
]}

Chanock, Stephen J. ^{[2
]}

Ziegler, Regina G. ^{[2
]}

Rodriguez-Gil, Jorge L. ^{[23
]}

Sucheston-Campbell, Lara E. ^{[24
]}

Sandler, Dale P. ^{[25
]}

Taylor, Jack A. ^{[25
]}

Kitahara, Cari M. ^{[26
]}

O'Brien, Katie M. ^{[25
]}

Bolla, Manjeet K. ^{[27
]}

Dennis, Joe ^{[27
]}

Dunning, Alison M. ^{[28
]}

Easton, Douglas F. ^{[27
,28
]}

Michailidou, Kyriaki ^{[29
]}

Pharoah, Paul D. P. ^{[27
,28
]}

Wang, Qin ^{[27
]}

Figueroa, Jonine ^{[30
,31
]}

Biritwum, Richard ^{[32
]}

Adjei, Ernest ^{[33
]}

Wiafe, Seth ^{[34
]}

Ambrosone, Christine B. ^{[14
]}

机构：

[1] Univ Chicago, Dept Publ Hlth Sci, 5841 South Maryland Ave,MC 2000, Chicago, IL 60637 USA

[2] NCI, Div Canc Epidemiol & Genet, NIH, Rockville, MD 20850 USA

[3] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02118 USA

[4] Univ N Carolina, Dept Epidemiol, Gillings Sch Global Publ Hlth, Chapel Hill, NC 27599 USA

[5] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98109 USA

[6] Univ Ibadan, Coll Med, Dept Surg, Ibadan, Nigeria

[7] Univ Ibadan, Coll Med, Ctr Populat & Reprod Hlth, Ibadan, Nigeria

[8] Vanderbilt Univ, Dept Med, Vanderbilt Epidemiol Ctr, Vanderbilt Ingram Canc Ctr,Div Epidemiol,Sch Med, Nashville, TN 37232 USA

[9] Univ Penn, Dept Med, Perelman Sch Med, Philadelphia, PA 19104 USA

[10] SUNY Stony Brook, Dept Family Populat & Prevent Med, Stony Brook, NY 11794 USA

[11] Univ West Indies, Bridgetown, Barbados

[12] NCI, Human Carcinogenesis Lab, Bldg 37, Bethesda, MD 20892 USA

[13] Boston Univ, Slone Epidemiol Ctr, Boston, MA 02215 USA

[14] Roswell Park Comprehes Canc Ctr, Dept Canc Prevent & Control, Buffalo, NY 14203 USA

[15] Rutgers Canc Inst New Jersey, Canc Prevent & Control Program, New Brunswick, NJ 08903 USA

[16] Univ N Carolina, Sch Med, Dept Radiol, Chapel Hill, NC 27514 USA

[17] Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA

[18] Stanford Univ, Sch Med, Dept Epidemiol & Populat Hlth, Stanford, CA 94304 USA

[19] Stanford Univ, Sch Med, Dept Med Oncol, Stanford, CA 94304 USA

[20] Stanford Univ, Sch Med, Stanford Canc Inst, Stanford, CA 94304 USA

[21] City Hope Comprehens Canc Ctr, Beckman Res Inst, Dept Populat Sci, Biomarkers Early Detect & Prevent, Duarte, CA 91010 USA

[22] Univ Miami, Miller Sch Med, Dept Publ Hlth Sci, Miami, FL 33136 USA

[23] NHGRI, Genom Dev & Dis Sect, Genet Dis Res Branch, Bethesda, MD 20894 USA

[24] Ohio State Univ, Coll Vet Med, Dept Vet Biosci, Columbus, OH 43210 USA

[25] NIEHS, Epidemiol Branch, NIH, Res Triangle Pk, NC 27709 USA

[26] NCI, Radiat Epidemiol Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA

[27] Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge CB1 8RN, England

[28] Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge CB1 8RN, England

[29] Cyprus Inst Neurol & Genet, Biostat Unit, CY-2371 Nicosia, Cyprus

[30] Univ Edinburgh, Sch Med, Usher Inst Populat Hlth Sci & Informat, Edinburgh EH16 5TJ, Midlothian, Scotland

[31] Canc Res UK Edinburgh Ctr, Edinburgh EH4 2XR, Midlothian, Scotland

[32] Univ Ghana, Accra, Ghana

[33] Komfo Anokye Teaching Hosp, Kumasi, Ghana

[34] Loma Linda Univ, Sch Publ Hlth, Loma Linda, CA 92350 USA

[35] Univ Chicago, Ctr Clin Canc Genet & Global Hlth, Chicago, IL 60637 USA

来源：

HUMAN MOLECULAR GENETICS | 2022年

基金：

美国国家卫生研究院; 欧盟地平线“2020”;

关键词：

GENOME-WIDE ASSOCIATION; GENETIC-VARIANTS; AMERICAN; SUSCEPTIBILITY; ACCURACY;

D O I：

10.1093/hmg/ddac102

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：3133 / 3143

页数：11

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