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3. Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

Author

Wang, Anqi, Shen, Jiayi, Rodriguez, Alex A., Saunders, Edward J., Chen, Fei, Janivara, Rohini, Darst, Burcu F., Sheng, Xin, Xu, Yili, Chou, Alisha J., Benlloch, Sara, Dadaev, Tokhir, Brook, Mark N., Plym, Anna, Sahimi, Ali, Hoffman, Thomas J., Takahashi, Atushi, Matsuda, Koichi, Momozawa, Yukihide, Fujita, Masashi, Laisk, Triin, Figuerêdo, Jéssica, Muir, Kenneth, Ito, Shuji, Liu, Xiaoxi, Uchio, Yuji, Kubo, Michiaki, Kamatani, Yoichiro, Lophatananon, Artitaya, Wan, Peggy, Andrews, Caroline, Lori, Adriana, Choudhury, Parichoy P., Schleutker, Johanna, Tammela, Teuvo L. J., Sipeky, Csilla, Auvinen, Anssi, Giles, Graham G., Southey, Melissa C., MacInnis, Robert J., Cybulski, Cezary, Wokolorczyk, Dominika, Lubinski, Jan, Rentsch, Christopher T., Cho, Kelly, Mcmahon, Benjamin H., Neal, David E., Donovan, Jenny L., Hamdy, Freddie C., Martin, Richard M., Nordestgaard, Borge G., Nielsen, Sune F., Weischer, Maren, Bojesen, Stig E., Røder, Andreas, Stroomberg, Hein V., Batra, Jyotsna, Chambers, Suzanne, Horvath, Lisa, Clements, Judith A., Tilly, Wayne, Risbridger, Gail P., Gronberg, Henrik, Aly, Markus, Szulkin, Robert, Eklund, Martin, Nordstrom, Tobias, Pashayan, Nora, Dunning, Alison M., Ghoussaini, Maya, Travis, Ruth C., Key, Tim J., Riboli, Elio, Park, Jong Y., Sellers, Thomas A., Lin, Hui-Yi, Albanes, Demetrius, Weinstein, Stephanie, Cook, Michael B., Mucci, Lorelei A., Giovannucci, Edward, Lindstrom, Sara, Kraft, Peter, Hunter, David J., Penney, Kathryn L., Turman, Constance, Tangen, Catherine M., Goodman, Phyllis J., Thompson, Jr., Ian M., Hamilton, Robert J., Fleshner, Neil E., Finelli, Antonio, Parent, Marie-Élise, Stanford, Janet L., Ostrander, Elaine A., Koutros, Stella, Beane Freeman, Laura E., Stampfer, Meir, Wolk, Alicja, Håkansson, Niclas, Andriole, Gerald L., Hoover, Robert N., Machiela, Mitchell J., Sørensen, Karina Dalsgaard, Borre, Michael, Blot, William J., Zheng, Wei, Yeboah, Edward D., Mensah, James E., Lu, Yong-Jie, Zhang, Hong-Wei, Feng, Ninghan, Mao, Xueying, Wu, Yudong, Zhao, Shan-Chao, Sun, Zan, Thibodeau, Stephen N., McDonnell, Shannon K., Schaid, Daniel J., West, Catharine M. L., Barnett, Gill, Maier, Christiane, Schnoeller, Thomas, Luedeke, Manuel, Kibel, Adam S., Drake, Bettina F., Cussenot, Olivier, Cancel-Tassin, Geraldine, Menegaux, Florence, Truong, Thérèse, Koudou, Yves Akoli, John, Esther M., Grindedal, Eli Marie, Maehle, Lovise, Khaw, Kay-Tee, Ingles, Sue A., Stern, Mariana C., Vega, Ana, Gómez-Caamaño, Antonio, Fachal, Laura, Rosenstein, Barry S., Kerns, Sarah L., Ostrer, Harry, Teixeira, Manuel R., Paulo, Paula, Brandão, Andreia, Watya, Stephen, Lubwama, Alexander, Bensen, Jeannette T., Butler, Ebonee N., Mohler, James L., Taylor, Jack A., Kogevinas, Manolis, Dierssen-Sotos, Trinidad, Castaño-Vinyals, Gemma, Cannon-Albright, Lisa, Teerlink, Craig C., Huff, Chad D., Pilie, Patrick, Yu, Yao, Bohlender, Ryan J., Gu, Jian, Strom, Sara S., Multigner, Luc, Blanchet, Pascal, Brureau, Laurent, Kaneva, Radka, Slavov, Chavdar, Mitev, Vanio, Leach, Robin J., Brenner, Hermann, Chen, Xuechen, Holleczek, Bernd, Schöttker, Ben, Klein, Eric A., Hsing, Ann W., Kittles, Rick A., Murphy, Adam B., Logothetis, Christopher J., Kim, Jeri, Neuhausen, Susan L., Steele, Linda, Ding, Yuan Chun, Isaacs, William B., Nemesure, Barbara, Hennis, Anselm J. M., Carpten, John, Pandha, Hardev, Michael, Agnieszka, De Ruyck, Kim, De Meerleer, Gert, Ost, Piet, Xu, Jianfeng, Razack, Azad, Lim, Jasmine, Teo, Soo-Hwang, Newcomb, Lisa F., Lin, Daniel W., Fowke, Jay H., Neslund-Dudas, Christine M., Rybicki, Benjamin A., Gamulin, Marija, Lessel, Davor, Kulis, Tomislav, Usmani, Nawaid, Abraham, Aswin, Singhal, Sandeep, Parliament, Matthew, Claessens, Frank, Joniau, Steven, Van den Broeck, Thomas, Gago-Dominguez, Manuela, Castelao, Jose Esteban, Martinez, Maria Elena, Larkin, Samantha, Townsend, Paul A., Aukim-Hastie, Claire, Bush, William S., Aldrich, Melinda C., Crawford, Dana C., Srivastava, Shiv, Cullen, Jennifer, Petrovics, Gyorgy, Casey, Graham, Wang, Ying, Tettey, Yao, Lachance, Joseph, Tang, Wei, Biritwum, Richard B., Adjei, Andrew A., Tay, Evelyn, Truelove, Ann, Niwa, Shelley, Yamoah, Kosj, Govindasami, Koveela, Chokkalingam, Anand P., Keaton, Jacob M., Hellwege, Jacklyn N., Clark, Peter E., Jalloh, Mohamed, Gueye, Serigne M., Niang, Lamine, Ogunbiyi, Olufemi, Shittu, Olayiwola, Amodu, Olukemi, Adebiyi, Akindele O., Aisuodionoe-Shadrach, Oseremen I., Ajibola, Hafees O., Jamda, Mustapha A., Oluwole, Olabode P., Nwegbu, Maxwell, Adusei, Ben, Mante, Sunny, Darkwa-Abrahams, Afua, Diop, Halimatou, Gundell, Susan M., Roobol, Monique J., Jenster, Guido, van Schaik, Ron H. N., Hu, Jennifer J., Sanderson, Maureen, Kachuri, Linda, Varma, Rohit, McKean-Cowdin, Roberta, Torres, Mina, Preuss, Michael H., Loos, Ruth J. F., Zawistowski, Matthew, Zöllner, Sebastian, Lu, Zeyun, Van Den Eeden, Stephen K., Easton, Douglas F., Ambs, Stefan, Edwards, Todd L., Mägi, Reedik, Rebbeck, Timothy R., Fritsche, Lars, Chanock, Stephen J., Berndt, Sonja I., Wiklund, Fredrik, Nakagawa, Hidewaki, Witte, John S., Gaziano, J. Michael, Justice, Amy C., Mancuso, Nick, Terao, Chikashi, Eeles, Rosalind A., Kote-Jarai, Zsofia, Madduri, Ravi K., Conti, David V., and Haiman, Christopher A.

Published
2023
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4. Performance of African-ancestry-specific polygenic hazard score varies according to local ancestry in 8q24

Author

Karunamuni, Roshan A, Huynh-Le, Minh-Phuong, Fan, Chun C, Thompson, Wesley, Lui, Asona, Martinez, Maria Elena, Rose, Brent S, Mahal, Brandon, Eeles, Rosalind A, Kote-Jarai, Zsofia, Muir, Kenneth, Lophatananon, Artitaya, Tangen, Catherine M, Goodman, Phyllis J, Thompson, Ian M, Blot, William J, Zheng, Wei, Kibel, Adam S, Drake, Bettina F, Cussenot, Olivier, Cancel-Tassin, Géraldine, Menegaux, Florence, Truong, Thérèse, Park, Jong Y, Lin, Hui-Yi, Taylor, Jack A, Bensen, Jeannette T, Mohler, James L, Fontham, Elizabeth TH, Multigner, Luc, Blanchet, Pascal, Brureau, Laurent, Romana, Marc, Leach, Robin J, John, Esther M, Fowke, Jay H, Bush, William S, Aldrich, Melinda C, Crawford, Dana C, Cullen, Jennifer, Petrovics, Gyorgy, Parent, Marie-Élise, Hu, Jennifer J, Sanderson, Maureen, Mills, Ian G, Andreassen, Ole A, Dale, Anders M, and Seibert, Tyler M

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Prostate Cancer, Prevention, Genetics, Cancer, Urologic Diseases, Black People, Case-Control Studies, Chromosomes, Human, Pair 8, Genetic Predisposition to Disease, Humans, Male, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Prostatic Neoplasms, Risk Assessment, White People, UKGPCS Collaborators, PRACTICAL Consortium, Urology & Nephrology, Clinical sciences, Oncology and carcinogenesis
Abstract

BackgroundWe previously developed an African-ancestry-specific polygenic hazard score (PHS46+African) that substantially improved prostate cancer risk stratification in men with African ancestry. The model consists of 46 SNPs identified in Europeans and 3 SNPs from 8q24 shown to improve model performance in Africans. Herein, we used principal component (PC) analysis to uncover subpopulations of men with African ancestry for whom the utility of PHS46+African may differ.Materials and methodsGenotypic data were obtained from the PRACTICAL consortium for 6253 men with African genetic ancestry. Genetic variation in a window spanning 3 African-specific 8q24 SNPs was estimated using 93 PCs. A Cox proportional hazards framework was used to identify the pair of PCs most strongly associated with the performance of PHS46+African. A calibration factor (CF) was formulated using Cox coefficients to quantify the extent to which the performance of PHS46+African varies with PC.ResultsCF of PHS46+African was strongly associated with the first and twentieth PCs. Predicted CF ranged from 0.41 to 2.94, suggesting that PHS46+African may be up to 7 times more beneficial to some African men than others. The explained relative risk for PHS46+African varied from 3.6% to 9.9% for individuals with low and high CF values, respectively. By cross-referencing our data set with 1000 Genomes, we identified significant associations between continental and calibration groupings.ConclusionWe identified PCs within 8q24 that were strongly associated with the performance of PHS46+African. Further research to improve the clinical utility of polygenic risk scores (or models) is needed to improve health outcomes for men of African ancestry.

Published
2022

5. Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women.

Author

Adedokun, Babatunde, Du, Zhaohui, Gao, Guimin, Ahearn, Thomas U, Lunetta, Kathryn L, Zirpoli, Gary, Figueroa, Jonine, John, Esther M, Bernstein, Leslie, Zheng, Wei, Hu, Jennifer J, Ziegler, Regina G, Nyante, Sarah, Bandera, Elisa V, Ingles, Sue A, Press, Michael F, Deming-Halverson, Sandra L, Rodriguez-Gil, Jorge L, Yao, Song, Ogundiran, Temidayo O, Ojengbede, Oladosu, Blot, William, Troester, Melissa A, Nathanson, Katherine L, Hennis, Anselm, Nemesure, Barbara, Ambs, Stefan, Fiorica, Peter N, Sucheston-Campbell, Lara E, Bensen, Jeannette T, Kushi, Lawrence H, Torres-Mejia, Gabriela, Hu, Donglei, Fejerman, Laura, Bolla, Manjeet K, Dennis, Joe, Dunning, Alison M, Easton, Douglas F, Michailidou, Kyriaki, Pharoah, Paul DP, Wang, Qin, Sandler, Dale P, Taylor, Jack A, O'Brien, Katie M, Kitahara, Cari M, Falusi, Adeyinka G, Babalola, Chinedum, Yarney, Joel, Awuah, Baffour, Addai-Wiafe, Beatrice, GBHS Study Team, Chanock, Stephen J, Olshan, Andrew F, Ambrosone, Christine B, Conti, David V, Ziv, Elad, Olopade, Olufunmilayo I, Garcia-Closas, Montserrat, Palmer, Julie R, Haiman, Christopher A, and Huo, Dezheng

Subjects
GBHS Study Team, Humans, Breast Neoplasms, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Introns, African Continental Ancestry Group, European Continental Ancestry Group, Female, Genome-Wide Association Study
Abstract

Our study describes breast cancer risk loci using a cross-ancestry GWAS approach. We first identify variants that are associated with breast cancer at P

Published
2021

6. Performance of African-ancestry-specific polygenic hazard score varies according to local ancestry in 8q24.

Author

Karunamuni, Roshan A, Huynh-Le, Minh-Phuong, Fan, Chun C, Thompson, Wesley, Lui, Asona, Martinez, Maria Elena, Rose, Brent S, Mahal, Brandon, Eeles, Rosalind A, Kote-Jarai, Zsofia, Muir, Kenneth, Lophatananon, Artitaya, UKGPCS Collaborators, Tangen, Catherine M, Goodman, Phyllis J, Thompson, Ian M, Blot, William J, Zheng, Wei, Kibel, Adam S, Drake, Bettina F, Cussenot, Olivier, Cancel-Tassin, Géraldine, Menegaux, Florence, Truong, Thérèse, Park, Jong Y, Lin, Hui-Yi, Taylor, Jack A, Bensen, Jeannette T, Mohler, James L, Fontham, Elizabeth TH, Multigner, Luc, Blanchet, Pascal, Brureau, Laurent, Romana, Marc, Leach, Robin J, John, Esther M, Fowke, Jay H, Bush, William S, Aldrich, Melinda C, Crawford, Dana C, Cullen, Jennifer, Petrovics, Gyorgy, Parent, Marie-Élise, Hu, Jennifer J, Sanderson, Maureen, PRACTICAL Consortium, Mills, Ian G, Andreassen, Ole A, Dale, Anders M, and Seibert, Tyler M

Subjects
UKGPCS Collaborators, PRACTICAL Consortium, Urologic Diseases, Prevention, Genetics, Prostate Cancer, Cancer, Urology & Nephrology, Oncology and Carcinogenesis
Abstract

BackgroundWe previously developed an African-ancestry-specific polygenic hazard score (PHS46+African) that substantially improved prostate cancer risk stratification in men with African ancestry. The model consists of 46 SNPs identified in Europeans and 3 SNPs from 8q24 shown to improve model performance in Africans. Herein, we used principal component (PC) analysis to uncover subpopulations of men with African ancestry for whom the utility of PHS46+African may differ.Materials and methodsGenotypic data were obtained from the PRACTICAL consortium for 6253 men with African genetic ancestry. Genetic variation in a window spanning 3 African-specific 8q24 SNPs was estimated using 93 PCs. A Cox proportional hazards framework was used to identify the pair of PCs most strongly associated with the performance of PHS46+African. A calibration factor (CF) was formulated using Cox coefficients to quantify the extent to which the performance of PHS46+African varies with PC.ResultsCF of PHS46+African was strongly associated with the first and twentieth PCs. Predicted CF ranged from 0.41 to 2.94, suggesting that PHS46+African may be up to 7 times more beneficial to some African men than others. The explained relative risk for PHS46+African varied from 3.6% to 9.9% for individuals with low and high CF values, respectively. By cross-referencing our data set with 1000 Genomes, we identified significant associations between continental and calibration groupings.ConclusionWe identified PCs within 8q24 that were strongly associated with the performance of PHS46+African. Further research to improve the clinical utility of polygenic risk scores (or models) is needed to improve health outcomes for men of African ancestry.

Published
2021

7. African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer.

Author

Karunamuni, Roshan A, Huynh-Le, Minh-Phuong, Fan, Chun C, Thompson, Wesley, Eeles, Rosalind A, Kote-Jarai, Zsofia, Muir, Kenneth, UKGPCS Collaborators, Lophatananon, Artitaya, Tangen, Catherine M, Goodman, Phyllis J, Thompson, Ian M, Blot, William J, Zheng, Wei, Kibel, Adam S, Drake, Bettina F, Cussenot, Olivier, Cancel-Tassin, Géraldine, Menegaux, Florence, Truong, Thérèse, Park, Jong Y, Lin, Hui-Yi, Bensen, Jeannette T, Fontham, Elizabeth TH, Mohler, James L, Taylor, Jack A, Multigner, Luc, Blanchet, Pascal, Brureau, Laurent, Romana, Marc, Leach, Robin J, John, Esther M, Fowke, Jay, Bush, William S, Aldrich, Melinda, Crawford, Dana C, Srivastava, Shiv, Cullen, Jennifer C, Petrovics, Gyorgy, Parent, Marie-Élise, Hu, Jennifer J, Sanderson, Maureen, Mills, Ian G, Andreassen, Ole A, Dale, Anders M, Seibert, Tyler M, and PRACTICAL Consortium

Subjects
UKGPCS Collaborators, PRACTICAL Consortium, Humans, Prostatic Neoplasms, Genetic Predisposition to Disease, Proportional Hazards Models, Case-Control Studies, Age Factors, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Models, Genetic, Middle Aged, African Continental Ancestry Group, Male, Genotyping Techniques, African, genome wide association study, genomics, genotypic ancestry, health disparities, polygenic risk, prostate cancer, Aging, Genetics, Urologic Diseases, Cancer, Prostate Cancer, Prevention, Oncology & Carcinogenesis, Oncology and Carcinogenesis
Abstract

Polygenic hazard score (PHS) models are associated with age at diagnosis of prostate cancer. Our model developed in Europeans (PHS46) showed reduced performance in men with African genetic ancestry. We used a cross-validated search to identify single nucleotide polymorphisms (SNPs) that might improve performance in this population. Anonymized genotypic data were obtained from the PRACTICAL consortium for 6253 men with African genetic ancestry. Ten iterations of a 10-fold cross-validation search were conducted to select SNPs that would be included in the final PHS46+African model. The coefficients of PHS46+African were estimated in a Cox proportional hazards framework using age at diagnosis as the dependent variable and PHS46, and selected SNPs as predictors. The performance of PHS46 and PHS46+African was compared using the same cross-validated approach. Three SNPs (rs76229939, rs74421890 and rs5013678) were selected for inclusion in PHS46+African. All three SNPs are located on chromosome 8q24. PHS46+African showed substantial improvements in all performance metrics measured, including a 75% increase in the relative hazard of those in the upper 20% compared to the bottom 20% (2.47-4.34) and a 20% reduction in the relative hazard of those in the bottom 20% compared to the middle 40% (0.65-0.53). In conclusion, we identified three SNPs that substantially improved the association of PHS46 with age at diagnosis of prostate cancer in men with African genetic ancestry to levels comparable to Europeans.

Published
2021

8. Evidence of Novel Susceptibility Variants for Prostate Cancer and a Multiancestry Polygenic Risk Score Associated with Aggressive Disease in Men of African Ancestry

Author

Chen, Fei, Madduri, Ravi K., Rodriguez, Alex A., Darst, Burcu F., Chou, Alisha, Sheng, Xin, Wang, Anqi, Shen, Jiayi, Saunders, Edward J., Rhie, Suhn K., Bensen, Jeannette T., Ingles, Sue A., Kittles, Rick A., Strom, Sara S., Rybicki, Benjamin A., Nemesure, Barbara, Isaacs, William B., Stanford, Janet L., Zheng, Wei, Sanderson, Maureen, John, Esther M., Park, Jong Y., Xu, Jianfeng, Wang, Ying, Berndt, Sonja I., Huff, Chad D., Yeboah, Edward D., Tettey, Yao, Lachance, Joseph, Tang, Wei, Rentsch, Christopher T., Cho, Kelly, Mcmahon, Benjamin H., Biritwum, Richard B., Adjei, Andrew A., Tay, Evelyn, Truelove, Ann, Niwa, Shelley, Sellers, Thomas A., Yamoah, Kosj, Murphy, Adam B., Crawford, Dana C., Patel, Alpa V., Bush, William S., Aldrich, Melinda C., Cussenot, Olivier, Petrovics, Gyorgy, Cullen, Jennifer, Neslund-Dudas, Christine M., Stern, Mariana C., Kote-Jarai, Zsofia, Govindasami, Koveela, Cook, Michael B., Chokkalingam, Anand P., Hsing, Ann W., Goodman, Phyllis J., Hoffmann, Thomas J., Drake, Bettina F., Hu, Jennifer J., Keaton, Jacob M., Hellwege, Jacklyn N., Clark, Peter E., Jalloh, Mohamed, Gueye, Serigne M., Niang, Lamine, Ogunbiyi, Olufemi, Idowu, Michael O., Popoola, Olufemi, Adebiyi, Akindele O., Aisuodionoe-Shadrach, Oseremen I., Ajibola, Hafees O., Jamda, Mustapha A., Oluwole, Olabode P., Nwegbu, Maxwell, Adusei, Ben, Mante, Sunny, Darkwa-Abrahams, Afua, Mensah, James E., Diop, Halimatou, Van Den Eeden, Stephen K., Blanchet, Pascal, Fowke, Jay H., Casey, Graham, Hennis, Anselm J., Lubwama, Alexander, Thompson, Ian M., Jr., Leach, Robin, Easton, Douglas F., Preuss, Michael H., Loos, Ruth J., Gundell, Susan M., Wan, Peggy, Mohler, James L., Fontham, Elizabeth T., Smith, Gary J., Taylor, Jack A., Srivastava, Shiv, Eeles, Rosaline A., Carpten, John D., Kibel, Adam S., Multigner, Luc, Parent, Marie-Élise, Menegaux, Florence, Cancel-Tassin, Geraldine, Klein, Eric A., Andrews, Caroline, Rebbeck, Timothy R., Brureau, Laurent, Ambs, Stefan, Edwards, Todd L., Watya, Stephen, Chanock, Stephen J., Witte, John S., Blot, William J., Michael Gaziano, J., Justice, Amy C., Conti, David V., and Haiman, Christopher A.

Published
2023
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9. Question prompt lists and caregiver question asking in pediatric specialty appointments: A randomized controlled trial

Author

Waltz, Margaret, Yan, Haoyang, Cadigan, R. Jean, Canter, Courtney, Bain, Lizzy, Bensen, Jeannette T., Conway, Carol, Haldeman-Englert, Chad, Farnan, Laura, M. Foreman, Ann Katherine, Grant, Tracey L., Leach, Barbara, Lin, Feng-Chang, Mahla, Madeline, O'Daniel, Julianne M., O'Neill, Suzanne C., Smith, Gerri, Powell, Bradford C., Berg, Jonathan S., and Rini, Christine M.

Published
2023
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12. The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations

Author

Amendola, Laura M, Berg, Jonathan S, Horowitz, Carol R, Angelo, Frank, Bensen, Jeannette T, Biesecker, Barbara B, Biesecker, Leslie G, Cooper, Gregory M, East, Kelly, Filipski, Kelly, Fullerton, Stephanie M, Gelb, Bruce D, Goddard, Katrina AB, Hailu, Benyam, Hart, Ragan, Hassmiller-Lich, Kristen, Joseph, Galen, Kenny, Eimear E, Koenig, Barbara A, Knight, Sara, Kwok, Pui-Yan, Lewis, Katie L, McGuire, Amy L, Norton, Mary E, Ou, Jeffrey, Parsons, Donald W, Powell, Bradford C, Risch, Neil, Robinson, Mimsie, Rini, Christine, Scollon, Sarah, Slavotinek, Anne M, Veenstra, David L, Wasserstein, Melissa P, Wilfond, Benjamin S, Hindorff, Lucia A, consortium, CSER, Plon, Sharon E, and Jarvik, Gail P

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Health Services and Systems, Health Sciences, Clinical Sciences, Clinical Research, Human Genome, Health Services, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Good Health and Well Being, Adult, Cost-Benefit Analysis, Delivery of Health Care, Europe, Exome, Genome, Human, Genomics, Humans, National Human Genome Research Institute (U.S.), Phenotype, United States, Whole Genome Sequencing, CSER consortium, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its second funding cycle, is investigating the effectiveness of integrating genomic (exome or genome) sequencing into the clinical care of diverse and medically underserved individuals in a variety of healthcare settings and disease states. The consortium comprises a coordinating center, six funded extramural clinical projects, and an ongoing National Human Genome Research Institute (NHGRI) intramural project. Collectively, these projects aim to enroll and sequence over 6,100 participants in four years. At least 60% of participants will be of non-European ancestry or from underserved settings, with the goal of diversifying the populations that are providing an evidence base for genomic medicine. Five of the six clinical projects are enrolling pediatric patients with various phenotypes. One of these five projects is also enrolling couples whose fetus has a structural anomaly, and the sixth project is enrolling adults at risk for hereditary cancer. The ongoing NHGRI intramural project has enrolled primarily healthy adults. Goals of the consortium include assessing the clinical utility of genomic sequencing, exploring medical follow up and cascade testing of relatives, and evaluating patient-provider-laboratory level interactions that influence the use of this technology. The findings from the CSER consortium will offer patients, healthcare systems, and policymakers a clearer understanding of the opportunities and challenges of providing genomic medicine in diverse populations and settings, and contribute evidence toward developing best practices for the delivery of clinically useful and cost-effective genomic sequencing in diverse healthcare settings.

Published
2018

13. Two Novel Susceptibility Loci for Prostate Cancer in Men of African Ancestry

Author

Conti, David V, Wang, Kan, Sheng, Xin, Bensen, Jeannette T, Hazelett, Dennis J, Cook, Michael B, Ingles, Sue A, Kittles, Rick A, Strom, Sara S, Rybicki, Benjamin A, Nemesure, Barbara, Isaacs, William B, Stanford, Janet L, Zheng, Wei, Sanderson, Maureen, John, Esther M, Park, Jong Y, Xu, Jianfeng, Stevens, Victoria L, Berndt, Sonja I, Huff, Chad D, Wang, Zhaoming, Yeboah, Edward D, Tettey, Yao, Biritwum, Richard B, Adjei, Andrew A, Tay, Evelyn, Truelove, Ann, Niwa, Shelley, Sellers, Thomas A, Yamoah, Kosj, Murphy, Adam B, Crawford, Dana C, Gapstur, Susan M, Bush, William S, Aldrich, Melinda C, Cussenot, Olivier, Petrovics, Gyorgy, Cullen, Jennifer, Neslund-Dudas, Christine, Stern, Mariana C, Jarai, Zsofia-Kote, Govindasami, Koveela, Chokkalingam, Anand P, Hsing, Ann W, Goodman, Phyllis J, Hoffmann, Thomas, Drake, Bettina F, Hu, Jennifer J, Clark, Peter E, Van Den Eeden, Stephen K, Blanchet, Pascal, Fowke, Jay H, Casey, Graham, Hennis, Anselm JM, Han, Ying, Lubwama, Alexander, Thompson, Ian M, Leach, Robin, Easton, Douglas F, Schumacher, Fredrick, Van den Berg, David J, Gundell, Susan M, Stram, Alex, Wan, Peggy, Xia, Lucy, Pooler, Loreall C, Mohler, James L, Fontham, Elizabeth TH, Smith, Gary J, Taylor, Jack A, Srivastava, Shiv, Eeles, Rosalind A, Carpten, John, Kibel, Adam S, Multigner, Luc, Parent, Marie-Elise, Menegaux, Florence, Cancel-Tassin, Geraldine, Klein, Eric A, Brureau, Laurent, Stram, Daniel O, Watya, Stephen, Chanock, Stephen J, Witte, John S, Blot, William J, Henderson, Brian E, and Haiman, Christopher A

Subjects
Aging, Human Genome, Cancer, Prevention, Prostate Cancer, Biotechnology, Clinical Research, Genetics, Urologic Diseases, 2.1 Biological and endogenous factors, Aetiology, Blacks, Case-Control Studies, Checkpoint Kinase 2, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 22, Gene Frequency, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Insulin Receptor Substrate Proteins, Male, Polymorphism, Single Nucleotide, Prostatic Neoplasms, PRACTICAL/ELLIPSE Consortium, Black People, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

Prostate cancer incidence is 1.6-fold higher in African Americans than in other populations. The risk factors that drive this disparity are unknown and potentially consist of social, environmental, and genetic influences. To investigate the genetic basis of prostate cancer in men of African ancestry, we performed a genome-wide association meta-analysis using two-sided statistical tests in 10 202 case subjects and 10 810 control subjects. We identified novel signals on chromosomes 13q34 and 22q12, with the risk-associated alleles found only in men of African ancestry (13q34: rs75823044, risk allele frequency = 2.2%, odds ratio [OR] = 1.55, 95% confidence interval [CI] = 1.37 to 1.76, P = 6.10 × 10-12; 22q12.1: rs78554043, risk allele frequency = 1.5%, OR = 1.62, 95% CI = 1.39 to 1.89, P = 7.50 × 10-10). At 13q34, the signal is located 5' of the gene IRS2 and 3' of a long noncoding RNA, while at 22q12 the candidate functional allele is a missense variant in the CHEK2 gene. These findings provide further support for the role of ancestry-specific germline variation in contributing to population differences in prostate cancer risk.

Published
2017

14. Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

Author

Conti, David V., Darst, Burcu F., Moss, Lilit C., Saunders, Edward J., Sheng, Xin, Chou, Alisha, Schumacher, Fredrick R., Olama, Ali Amin Al, Benlloch, Sara, Dadaev, Tokhir, Brook, Mark N., Sahimi, Ali, Hoffmann, Thomas J., Takahashi, Atushi, Matsuda, Koichi, Momozawa, Yukihide, Fujita, Masashi, Muir, Kenneth, Lophatananon, Artitaya, Wan, Peggy, Le Marchand, Loic, Wilkens, Lynne R., Stevens, Victoria L., Gapstur, Susan M., Carter, Brian D., Schleutker, Johanna, Tammela, Teuvo L. J., Sipeky, Csilla, Auvinen, Anssi, Giles, Graham G., Southey, Melissa C., MacInnis, Robert J., Cybulski, Cezary, Wokołorczyk, Dominika, Lubiński, Jan, Neal, David E., Donovan, Jenny L., Hamdy, Freddie C., Martin, Richard M., Nordestgaard, Børge G., Nielsen, Sune F., Weischer, Maren, Bojesen, Stig E., Røder, Martin Andreas, Iversen, Peter, Batra, Jyotsna, Chambers, Suzanne, Moya, Leire, Horvath, Lisa, Clements, Judith A., Tilley, Wayne, Risbridger, Gail P., Gronberg, Henrik, Aly, Markus, Szulkin, Robert, Eklund, Martin, Nordström, Tobias, Pashayan, Nora, Dunning, Alison M., Ghoussaini, Maya, Travis, Ruth C., Key, Tim J., Riboli, Elio, Park, Jong Y., Sellers, Thomas A., Lin, Hui-Yi, Albanes, Demetrius, Weinstein, Stephanie J., Mucci, Lorelei A., Giovannucci, Edward, Lindstrom, Sara, Kraft, Peter, Hunter, David J., Penney, Kathryn L., Turman, Constance, Tangen, Catherine M., Goodman, Phyllis J., Thompson, Jr., Ian M., Hamilton, Robert J., Fleshner, Neil E., Finelli, Antonio, Parent, Marie-Élise, Stanford, Janet L., Ostrander, Elaine A., Geybels, Milan S., Koutros, Stella, Freeman, Laura E. Beane, Stampfer, Meir, Wolk, Alicja, Håkansson, Niclas, Andriole, Gerald L., Hoover, Robert N., Machiela, Mitchell J., Sørensen, Karina Dalsgaard, Borre, Michael, Blot, William J., Zheng, Wei, Yeboah, Edward D., Mensah, James E., Lu, Yong-Jie, Zhang, Hong-Wei, Feng, Ninghan, Mao, Xueying, Wu, Yudong, Zhao, Shan-Chao, Sun, Zan, Thibodeau, Stephen N., McDonnell, Shannon K., Schaid, Daniel J., West, Catharine M. L., Burnet, Neil, Barnett, Gill, Maier, Christiane, Schnoeller, Thomas, Luedeke, Manuel, Kibel, Adam S., Drake, Bettina F., Cussenot, Olivier, Cancel-Tassin, Géraldine, Menegaux, Florence, Truong, Thérèse, Koudou, Yves Akoli, John, Esther M., Grindedal, Eli Marie, Maehle, Lovise, Khaw, Kay-Tee, Ingles, Sue A., Stern, Mariana C., Vega, Ana, Gómez-Caamaño, Antonio, Fachal, Laura, Rosenstein, Barry S., Kerns, Sarah L., Ostrer, Harry, Teixeira, Manuel R., Paulo, Paula, Brandão, Andreia, Watya, Stephen, Lubwama, Alexander, Bensen, Jeannette T., Fontham, Elizabeth T. H., Mohler, James, Taylor, Jack A., Kogevinas, Manolis, Llorca, Javier, Castaño-Vinyals, Gemma, Cannon-Albright, Lisa, Teerlink, Craig C., Huff, Chad D., Strom, Sara S., Multigner, Luc, Blanchet, Pascal, Brureau, Laurent, Kaneva, Radka, Slavov, Chavdar, Mitev, Vanio, Leach, Robin J., Weaver, Brandi, Brenner, Hermann, Cuk, Katarina, Holleczek, Bernd, Saum, Kai-Uwe, Klein, Eric A., Hsing, Ann W., Kittles, Rick A., Murphy, Adam B., Logothetis, Christopher J., Kim, Jeri, Neuhausen, Susan L., Steele, Linda, Ding, Yuan Chun, Isaacs, William B., Nemesure, Barbara, Hennis, Anselm J. M., Carpten, John, Pandha, Hardev, Michael, Agnieszka, De Ruyck, Kim, De Meerleer, Gert, Ost, Piet, Xu, Jianfeng, Razack, Azad, Lim, Jasmine, Teo, Soo-Hwang, Newcomb, Lisa F., Lin, Daniel W., Fowke, Jay H., Neslund-Dudas, Christine, Rybicki, Benjamin A., Gamulin, Marija, Lessel, Davor, Kulis, Tomislav, Usmani, Nawaid, Singhal, Sandeep, Parliament, Matthew, Claessens, Frank, Joniau, Steven, Van den Broeck, Thomas, Gago-Dominguez, Manuela, Castelao, Jose Esteban, Martinez, Maria Elena, Larkin, Samantha, Townsend, Paul A., Aukim-Hastie, Claire, Bush, William S., Aldrich, Melinda C., Crawford, Dana C., Srivastava, Shiv, Cullen, Jennifer C., Petrovics, Gyorgy, Casey, Graham, Roobol, Monique J., Jenster, Guido, van Schaik, Ron H. N., Hu, Jennifer J., Sanderson, Maureen, Varma, Rohit, McKean-Cowdin, Roberta, Torres, Mina, Mancuso, Nicholas, Berndt, Sonja I., Van Den Eeden, Stephen K., Easton, Douglas F., Chanock, Stephen J., Cook, Michael B., Wiklund, Fredrik, Nakagawa, Hidewaki, Witte, John S., Eeles, Rosalind A., Kote-Jarai, Zsofia, and Haiman, Christopher A.

Published
2021
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16. The motivation and process for developing a consortium‐wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care

Author

Hoban, Hannah G., primary, Yip, Tiffany A., additional, Chau, Joanna C., additional, Bensen, Jeannette T., additional, Desrosiers, Lauren R., additional, Finnila, Candice R., additional, Hindorff, Lucia A., additional, Kelly, Nicole R., additional, Lynch, Frances L., additional, Rolf, Bradley A., additional, Smith, Hadley S., additional, Wasserstein, Melissa P., additional, and Hassmiller Lich, Kristen, additional

Published
2023
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18. Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial

Author

Staley, Brooke S., Milko, Laura V., Waltz, Margaret, Griesemer, Ida, Mollison, Lonna, Grant, Tracey L., Farnan, Laura, Roche, Myra, Navas, Angelo, Lightfoot, Alexandra, Foreman, Ann Katherine M., O’Daniel, Julianne M., O’Neill, Suzanne C., Lin, Feng-Chang, Roman, Tamara S., Brandt, Alicia, Powell, Bradford C., Rini, Christine, Berg, Jonathan S., and Bensen, Jeannette T.

Published
2021
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19. Associations of prostate cancer risk variants with disease aggressiveness: results of the NCI-SPORE Genetics Working Group analysis of 18,343 cases.

Author

Helfand, Brian T, Roehl, Kimberly A, Cooper, Phillip R, McGuire, Barry B, Fitzgerald, Liesel M, Cancel-Tassin, Geraldine, Cornu, Jean-Nicolas, Bauer, Scott, Van Blarigan, Erin L, Chen, Xin, Duggan, David, Ostrander, Elaine A, Gwo-Shu, Mary, Zhang, Zuo-Feng, Chang, Shen-Chih, Jeong, Somee, Fontham, Elizabeth TH, Smith, Gary, Mohler, James L, Berndt, Sonja I, McDonnell, Shannon K, Kittles, Rick, Rybicki, Benjamin A, Freedman, Matthew, Kantoff, Philip W, Pomerantz, Mark, Breyer, Joan P, Smith, Jeffrey R, Rebbeck, Timothy R, Mercola, Dan, Isaacs, William B, Wiklund, Fredrick, Cussenot, Olivier, Thibodeau, Stephen N, Schaid, Daniel J, Cannon-Albright, Lisa, Cooney, Kathleen A, Chanock, Stephen J, Stanford, Janet L, Chan, June M, Witte, John, Xu, Jianfeng, Bensen, Jeannette T, Taylor, Jack A, and Catalona, William J

Subjects
Humans, Prostatic Neoplasms, Neoplasm Invasiveness, Genetic Predisposition to Disease, Risk Factors, Cohort Studies, Polymorphism, Single Nucleotide, Adult, Aged, Aged, 80 and over, Middle Aged, United States, Male, National Cancer Institute (U.S.), Genetic Association Studies, Polymorphism, Single Nucleotide, and over, National Cancer Institute, Urologic Diseases, Prostate Cancer, Human Genome, Genetics, Cancer, Prevention, Aging, 2.1 Biological and endogenous factors, Genetics & Heredity, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine
Abstract

Genetic studies have identified single nucleotide polymorphisms (SNPs) associated with the risk of prostate cancer (PC). It remains unclear whether such genetic variants are associated with disease aggressiveness. The NCI-SPORE Genetics Working Group retrospectively collected clinicopathologic information and genotype data for 36 SNPs which at the time had been validated to be associated with PC risk from 25,674 cases with PC. Cases were grouped according to race, Gleason score (Gleason ≤ 6, 7, ≥ 8) and aggressiveness (non-aggressive, intermediate, and aggressive disease). Statistical analyses were used to compare the frequency of the SNPs between different disease cohorts. After adjusting for multiple testing, only PC-risk SNP rs2735839 (G) was significantly and inversely associated with aggressive (OR = 0.77; 95 % CI 0.69-0.87) and high-grade disease (OR = 0.77; 95 % CI 0.68-0.86) in European men. Similar associations with aggressive (OR = 0.72; 95 % CI 0.58-0.89) and high-grade disease (OR = 0.69; 95 % CI 0.54-0.87) were documented in African-American subjects. The G allele of rs2735839 was associated with disease aggressiveness even at low PSA levels (

Published
2015

21. The motivation and process for developing a consortium‐wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care.

Author

Hoban, Hannah G., Yip, Tiffany A., Chau, Joanna C., Bensen, Jeannette T., Desrosiers, Lauren R., Finnila, Candice R., Hindorff, Lucia A., Kelly, Nicole R., Lynch, Frances L., Rolf, Bradley A., Smith, Hadley S., Wasserstein, Melissa P., and Hassmiller Lich, Kristen

Subjects
PATIENT care, GENETIC testing, CONSORTIA, ACQUISITION of data, FLOW charts, NUCLEOTIDE sequencing
Abstract

Costs of implementing genomic testing innovations extend beyond the cost of sequencing, affecting personnel and infrastructure for which little data are available. We developed a time and motion (T&M) study within the Clinical Sequencing Evidence‐Generating Research (CSER) consortium to address this gap, and herein describe challenges of conducting T&M studies within a research consortium and the approaches we developed to overcome them. CSER investigators created a subgroup to carry out the T&M study (authors). We describe logistical and administrative challenges associated with resource use data collection across heterogeneous projects conducted in real‐world clinical settings, and our solutions for completing this study and harmonizing data across projects. We delineate processes for feasible data collection on workflow, personnel, and resources required to deliver genetic testing innovations in each CSER project. A critical early step involved developing detailed project‐specific process flow diagrams of innovation implementation in projects' clinical settings. Analyzing diagrams across sites, we identified common process‐step themes, used to organize project‐specific data collection and cross‐project analysis. Given the heterogeneity of innovations, study design, and workflows, which affect resources required to deliver genetic testing innovations, flexibility was necessary to harmonize data collection. Despite its challenges, this heterogeneity provides rich insights about variation in clinical processes and resource implications for implementing genetic testing innovations. [ABSTRACT FROM AUTHOR]

Published
2024
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25. The Burden of COVID-19 on Caregivers of Children with Suspected Genetic Conditions: A Therapeutic Odyssey

Author

Waltz, Margaret, Canter, Courtney, Bensen, Jeannette T., Berg, Jonathan S., Foreman, Ann Katherine M., Grant, Tracey L., Lich, Kristen Hassmiller, Navas, Angelo, O’Daniel, Julianne M., Powell, Bradford C., Rini, Christine M., Staley, Brooke S., and Cadigan, R. Jean

Subjects
Occupational Therapy, Rehabilitation, Pediatrics, Perinatology and Child Health, Physical Therapy, Sports Therapy and Rehabilitation, General Medicine
Abstract

Children with disabilities and rare or undiagnosed conditions and their families have faced numerous hardships of living during the COVID-19 pandemic. For those with undiagnosed conditions, the diagnostic odyssey can be long, expensive, and marked by uncertainty. We, therefore, sought to understand whether and how COVID-19 impacted the trajectory of children’s care. We conducted semi-structured qualitative interviews with 25 caregivers who, prior to the pandemic, were on a diagnostic odyssey for their children. Most caregivers did not report any interruptions to their child’s diagnostic odyssey. The greatest impact was access to therapy services, including the suspension or loss of their child’s in-person therapeutic care and difficulties with virtual therapies. This therapy gap caused caregivers to fear that their children were not making progress. Although much has been written about the challenges of diagnostic odysseys for children and their families, this study illustrates the importance of expanding the focus of these studies to include therapeutic odysseys. Because therapeutic odysseys continue regardless of whether diagnoses are made, future research should investigate how to support caregivers through children’s therapies within and outside of the COVID-19 context.

Published
2022

26. Abstract 3508: Association between clonal hematopoiesis and risk of prostate cancer in a large sample of African ancestry men

Author

Wang, Anqi, primary, Xu, Yili, additional, Sheng, Xin, additional, Hughley, Raymond, additional, Adusei, Ben, additional, Jalloh, Mohamed, additional, Gueye, Serigne Magueye, additional, Adjei, Andrew A, additional, Mensah, James, additional, Fernandez, Pedro W., additional, Adebiyi, Akin Olupelumi, additional, Aisuodionoe-Shadrach, Oseremen Inokhoife, additional, Petersen, Lindsay, additional, Joffe, Maureen, additional, Bensen, Jeannette T., additional, Mohler, James L., additional, Taylor, Jack A., additional, Butler, Eboneé N., additional, Ingles, Sue A., additional, Rybicki, Benjamin A., additional, Stanford, Janet L., additional, Zheng, Wei, additional, Berndt, Sonja I., additional, Huff, Chad D., additional, Lachance, Joseph, additional, Multigner, Luc, additional, Andrews, Caroline, additional, Rebbeck, Timothy R., additional, Brureau, Laurent, additional, Chanock, Stephen J., additional, de Smith, Adam, additional, Chen, Fei, additional, Darst, Burcu F., additional, Conti, David V., additional, and Haiman, Christopher A., additional

Published
2023
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27. Abstract 1182: Association of prostate cancer candidate genes with overall and aggressive prostate cancer in men of African ancestry

Author

Chen, Fei, primary, Darst, Burcu F., additional, Sheng, Xin, additional, Wang, Anqi, additional, Xu, Yili, additional, Hughley, Raymond, additional, Adusei, Ben, additional, Jalloh, Mohamed, additional, Gueye, Serigne Magueye, additional, Adjei, Andrew A., additional, Mensah, James, additional, Fernandez, Pedro W., additional, Adebiyi, Akindele O., additional, Aisuodionoe-Shadrach, Oseremen, additional, Petersen, Lindsay, additional, Joffe, Maureen, additional, McBride, Jo, additional, Bensen, Jeannette T., additional, Mohler, James L., additional, Taylor, Jack A., additional, Butler, Eboneé N., additional, Ingles, Sue A., additional, Rybicki, Benjamin A., additional, Stanford, Janet L., additional, Zheng, Wei, additional, Berndt, Sonja I., additional, Huff, Chad D., additional, Lachance, Joseph, additional, Multigner, Luc, additional, Andrews, Caroline, additional, Rebbeck, Timothy R., additional, Brureau, Laurent, additional, Chanock, Stephen J., additional, Conti, David V., additional, and Haiman, Christopher A., additional

Published
2023
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32. Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach

Author

Gao, Guimin, Zhao, Fangyuan, Ahearn, Thomas U, Lunetta, Kathryn L, Troester, Melissa A, Du, Zhaohui, Ogundiran, Temidayo O, Ojengbede, Oladosu, Blot, William, Nathanson, Katherine L, Domchek, Susan M, Nemesure, Barbara, Hennis, Anselm, Ambs, Stefan, McClellan, Julian, Nie, Mark, Bertrand, Kimberly, Zirpoli, Gary, Yao, Song, Olshan, Andrew F, Bensen, Jeannette T, Bandera, Elisa V, Nyante, Sarah, Conti, David V, Press, Michael F, Ingles, Sue A, John, Esther M, Bernstein, Leslie, Hu, Jennifer J, Deming-Halverson, Sandra L, Chanock, Stephen J, Ziegler, Regina G, Rodriguez-Gil, Jorge L, Sucheston-Campbell, Lara E, Sandler, Dale P, Taylor, Jack A, Kitahara, Cari M, O’Brien, Katie M, Bolla, Manjeet K, Dennis, Joe, Dunning, Alison M, Easton, Douglas F, Michailidou, Kyriaki, Pharoah, Paul D P, Wang, Qin, Figueroa, Jonine, Biritwum, Richard, Adjei, Ernest, Wiafe, Seth, Ambrosone, Christine B, Zheng, Wei, Olopade, Olufunmilayo I, García-Closas, Montserrat, Palmer, Julie R, Haiman, Christopher A, and Huo, Dezheng

Subjects
Multifactorial Inheritance, Receptors, Estrogen/genetics, Breast Neoplasms, General Medicine, Breast Neoplasms/genetics, Receptors, Estrogen, Risk Factors, Genetics, Humans, Original Article, Female, Genetic Predisposition to Disease, Multifactorial Inheritance/genetics, Molecular Biology, Genetics (clinical), Genome-Wide Association Study
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.

Published
2022

33. Supplementary Table S3 from Characterizing Genetic Susceptibility to Breast Cancer in Women of African Ancestry

Author

Feng, Ye, primary, Rhie, Suhn Kyong, primary, Huo, Dezheng, primary, Ruiz-Narvaez, Edward A., primary, Haddad, Stephen A., primary, Ambrosone, Christine B., primary, John, Esther M., primary, Bernstein, Leslie, primary, Zheng, Wei, primary, Hu, Jennifer J., primary, Ziegler, Regina G., primary, Nyante, Sarah, primary, Bandera, Elisa V., primary, Ingles, Sue A., primary, Press, Michael F., primary, Deming, Sandra L., primary, Rodriguez-Gil, Jorge L., primary, Zheng, Yonglan, primary, Yao, Song, primary, Han, Yoo-Jeong, primary, Ogundiran, Temidayo O., primary, Rebbeck, Timothy R., primary, Adebamowo, Clement, primary, Ojengbede, Oladosu, primary, Falusi, Adeyinka G., primary, Hennis, Anselm, primary, Nemesure, Barbara, primary, Ambs, Stefan, primary, Blot, William, primary, Cai, Qiuyin, primary, Signorello, Lisa, primary, Nathanson, Katherine L., primary, Lunetta, Kathryn L., primary, Sucheston-Campbell, Lara E., primary, Bensen, Jeannette T., primary, Chanock, Stephen J., primary, Marchand, Loic Le, primary, Olshan, Andrew F., primary, Kolonel, Laurence N., primary, Conti, David V., primary, Coetzee, Gerhard A., primary, Stram, Daniel O., primary, Olopade, Olufunmilayo I., primary, Palmer, Julie R., primary, and Haiman, Christopher A., primary

Published
2023
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34. Data from Genetic Variants in Immune-Related Pathways and Breast Cancer Risk in African American Women in the AMBER Consortium

Author

Hong, Chi-Chen, primary, Sucheston-Campbell, Lara E., primary, Liu, Song, primary, Hu, Qiang, primary, Yao, Song, primary, Lunetta, Kathryn L., primary, Haddad, Stephen A., primary, Ruiz-Narváez, Edward A., primary, Bensen, Jeannette T., primary, Cheng, Ting-Yuan David, primary, Bandera, Elisa V., primary, Rosenberg, Lynn A., primary, Haiman, Christopher A., primary, Lee, Kelvin, primary, Evans, Sharon S., primary, Abrams, Scott I., primary, Repasky, Elizabeth A., primary, Olshan, Andrew F., primary, Palmer, Julie R., primary, and Ambrosone, Christine B., primary

Published
2023
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35. Supplementary Table 4 from Genetic Variants in Immune-Related Pathways and Breast Cancer Risk in African American Women in the AMBER Consortium

Author

Hong, Chi-Chen, primary, Sucheston-Campbell, Lara E., primary, Liu, Song, primary, Hu, Qiang, primary, Yao, Song, primary, Lunetta, Kathryn L., primary, Haddad, Stephen A., primary, Ruiz-Narváez, Edward A., primary, Bensen, Jeannette T., primary, Cheng, Ting-Yuan David, primary, Bandera, Elisa V., primary, Rosenberg, Lynn A., primary, Haiman, Christopher A., primary, Lee, Kelvin, primary, Evans, Sharon S., primary, Abrams, Scott I., primary, Repasky, Elizabeth A., primary, Olshan, Andrew F., primary, Palmer, Julie R., primary, and Ambrosone, Christine B., primary

Published
2023
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36. Supplementary Table 6 from Genetic Variants in Immune-Related Pathways and Breast Cancer Risk in African American Women in the AMBER Consortium

Author

Hong, Chi-Chen, primary, Sucheston-Campbell, Lara E., primary, Liu, Song, primary, Hu, Qiang, primary, Yao, Song, primary, Lunetta, Kathryn L., primary, Haddad, Stephen A., primary, Ruiz-Narváez, Edward A., primary, Bensen, Jeannette T., primary, Cheng, Ting-Yuan David, primary, Bandera, Elisa V., primary, Rosenberg, Lynn A., primary, Haiman, Christopher A., primary, Lee, Kelvin, primary, Evans, Sharon S., primary, Abrams, Scott I., primary, Repasky, Elizabeth A., primary, Olshan, Andrew F., primary, Palmer, Julie R., primary, and Ambrosone, Christine B., primary

Published
2023
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37. Supplementary Table 1 from Genetic Variants in Immune-Related Pathways and Breast Cancer Risk in African American Women in the AMBER Consortium

Author

Hong, Chi-Chen, primary, Sucheston-Campbell, Lara E., primary, Liu, Song, primary, Hu, Qiang, primary, Yao, Song, primary, Lunetta, Kathryn L., primary, Haddad, Stephen A., primary, Ruiz-Narváez, Edward A., primary, Bensen, Jeannette T., primary, Cheng, Ting-Yuan David, primary, Bandera, Elisa V., primary, Rosenberg, Lynn A., primary, Haiman, Christopher A., primary, Lee, Kelvin, primary, Evans, Sharon S., primary, Abrams, Scott I., primary, Repasky, Elizabeth A., primary, Olshan, Andrew F., primary, Palmer, Julie R., primary, and Ambrosone, Christine B., primary

Published
2023
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39. Supplementary Fig Leg from Characterizing Genetic Susceptibility to Breast Cancer in Women of African Ancestry

Author

Feng, Ye, primary, Rhie, Suhn Kyong, primary, Huo, Dezheng, primary, Ruiz-Narvaez, Edward A., primary, Haddad, Stephen A., primary, Ambrosone, Christine B., primary, John, Esther M., primary, Bernstein, Leslie, primary, Zheng, Wei, primary, Hu, Jennifer J., primary, Ziegler, Regina G., primary, Nyante, Sarah, primary, Bandera, Elisa V., primary, Ingles, Sue A., primary, Press, Michael F., primary, Deming, Sandra L., primary, Rodriguez-Gil, Jorge L., primary, Zheng, Yonglan, primary, Yao, Song, primary, Han, Yoo-Jeong, primary, Ogundiran, Temidayo O., primary, Rebbeck, Timothy R., primary, Adebamowo, Clement, primary, Ojengbede, Oladosu, primary, Falusi, Adeyinka G., primary, Hennis, Anselm, primary, Nemesure, Barbara, primary, Ambs, Stefan, primary, Blot, William, primary, Cai, Qiuyin, primary, Signorello, Lisa, primary, Nathanson, Katherine L., primary, Lunetta, Kathryn L., primary, Sucheston-Campbell, Lara E., primary, Bensen, Jeannette T., primary, Chanock, Stephen J., primary, Marchand, Loic Le, primary, Olshan, Andrew F., primary, Kolonel, Laurence N., primary, Conti, David V., primary, Coetzee, Gerhard A., primary, Stram, Daniel O., primary, Olopade, Olufunmilayo I., primary, Palmer, Julie R., primary, and Haiman, Christopher A., primary

Published
2023
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40. Supplementary Methods1 from Genetic Variants in Immune-Related Pathways and Breast Cancer Risk in African American Women in the AMBER Consortium

Author

Hong, Chi-Chen, primary, Sucheston-Campbell, Lara E., primary, Liu, Song, primary, Hu, Qiang, primary, Yao, Song, primary, Lunetta, Kathryn L., primary, Haddad, Stephen A., primary, Ruiz-Narváez, Edward A., primary, Bensen, Jeannette T., primary, Cheng, Ting-Yuan David, primary, Bandera, Elisa V., primary, Rosenberg, Lynn A., primary, Haiman, Christopher A., primary, Lee, Kelvin, primary, Evans, Sharon S., primary, Abrams, Scott I., primary, Repasky, Elizabeth A., primary, Olshan, Andrew F., primary, Palmer, Julie R., primary, and Ambrosone, Christine B., primary

Published
2023
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41. Associations between statin use and prostate cancer aggressiveness, overall and stratified by race and additionally adjusted for education, income and family history of prostate cancer. from Statin Use and Prostate Cancer Aggressiveness: Results from the Population-Based North Carolina–Louisiana Prostate Cancer Project

Author

Allott, Emma H., primary, Farnan, Laura, primary, Steck, Susan E., primary, Arab, Lenore, primary, Su, L. Joseph, primary, Mishel, Merle, primary, Fontham, Elizabeth T.H., primary, Mohler, James L., primary, and Bensen, Jeannette T., primary

Published
2023
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44. Supplementary Table 3 from Genetic Variants in Immune-Related Pathways and Breast Cancer Risk in African American Women in the AMBER Consortium

Author

Hong, Chi-Chen, primary, Sucheston-Campbell, Lara E., primary, Liu, Song, primary, Hu, Qiang, primary, Yao, Song, primary, Lunetta, Kathryn L., primary, Haddad, Stephen A., primary, Ruiz-Narváez, Edward A., primary, Bensen, Jeannette T., primary, Cheng, Ting-Yuan David, primary, Bandera, Elisa V., primary, Rosenberg, Lynn A., primary, Haiman, Christopher A., primary, Lee, Kelvin, primary, Evans, Sharon S., primary, Abrams, Scott I., primary, Repasky, Elizabeth A., primary, Olshan, Andrew F., primary, Palmer, Julie R., primary, and Ambrosone, Christine B., primary

Published
2023
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45. Supplementary Table 5 from Genetic Variants in Immune-Related Pathways and Breast Cancer Risk in African American Women in the AMBER Consortium

Author

Hong, Chi-Chen, primary, Sucheston-Campbell, Lara E., primary, Liu, Song, primary, Hu, Qiang, primary, Yao, Song, primary, Lunetta, Kathryn L., primary, Haddad, Stephen A., primary, Ruiz-Narváez, Edward A., primary, Bensen, Jeannette T., primary, Cheng, Ting-Yuan David, primary, Bandera, Elisa V., primary, Rosenberg, Lynn A., primary, Haiman, Christopher A., primary, Lee, Kelvin, primary, Evans, Sharon S., primary, Abrams, Scott I., primary, Repasky, Elizabeth A., primary, Olshan, Andrew F., primary, Palmer, Julie R., primary, and Ambrosone, Christine B., primary

Published
2023
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49. Associations between statin use, dose and type and prostate cancer aggressiveness, overall and stratified by race, excluding men who were using non-statin cholesterol-lowering drugs. from Statin Use and Prostate Cancer Aggressiveness: Results from the Population-Based North Carolina–Louisiana Prostate Cancer Project

Author

Allott, Emma H., primary, Farnan, Laura, primary, Steck, Susan E., primary, Arab, Lenore, primary, Su, L. Joseph, primary, Mishel, Merle, primary, Fontham, Elizabeth T.H., primary, Mohler, James L., primary, and Bensen, Jeannette T., primary

Published
2023
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50. Supplementary Table 2 from Genetic Variants in Immune-Related Pathways and Breast Cancer Risk in African American Women in the AMBER Consortium

Author

Hong, Chi-Chen, primary, Sucheston-Campbell, Lara E., primary, Liu, Song, primary, Hu, Qiang, primary, Yao, Song, primary, Lunetta, Kathryn L., primary, Haddad, Stephen A., primary, Ruiz-Narváez, Edward A., primary, Bensen, Jeannette T., primary, Cheng, Ting-Yuan David, primary, Bandera, Elisa V., primary, Rosenberg, Lynn A., primary, Haiman, Christopher A., primary, Lee, Kelvin, primary, Evans, Sharon S., primary, Abrams, Scott I., primary, Repasky, Elizabeth A., primary, Olshan, Andrew F., primary, Palmer, Julie R., primary, and Ambrosone, Christine B., primary

Published
2023
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