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2. Genomic characterization of cervical lymph node metastases in papillary thyroid carcinoma following the Chornobyl accident

Author

Morton, Lindsay M., Lee, Olivia W., Karyadi, Danielle M., Bogdanova, Tetiana I., Stewart, Chip, Hartley, Stephen W., Breeze, Charles E., Schonfeld, Sara J., Cahoon, Elizabeth K., Drozdovitch, Vladimir, Masiuk, Sergii, Chepurny, Mykola, Zurnadzhy, Liudmyla Yu, Dai, Jieqiong, Krznaric, Marko, Yeager, Meredith, Hutchinson, Amy, Hicks, Belynda D., Dagnall, Casey L., Steinberg, Mia K., Jones, Kristine, Jain, Komal, Jordan, Ben, Machiela, Mitchell J., Dawson, Eric T., Vij, Vibha, Gastier-Foster, Julie M., Bowen, Jay, Mabuchi, Kiyohiko, Hatch, Maureen, Berrington de Gonzalez, Amy, Getz, Gad, Tronko, Mykola D., Thomas, Gerry A., and Chanock, Stephen J.

Published
2024
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3. Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions

Author

Purdue, Mark P., Dutta, Diptavo, Machiela, Mitchell J., Gorman, Bryan R., Winter, Timothy, Okuhara, Dayne, Cleland, Sara, Ferreiro-Iglesias, Aida, Scheet, Paul, Liu, Aoxing, Wu, Chao, Antwi, Samuel O., Larkin, James, Zequi, Stênio C., Sun, Maxine, Hikino, Keiko, Hajiran, Ali, Lawson, Keith A., Cárcano, Flavio, Blanchet, Odile, Shuch, Brian, Nepple, Kenneth G., Margue, Gaëlle, Sundi, Debasish, Diver, W. Ryan, Folgueira, Maria A. A. K., van Bokhoven, Adrie, Neffa, Florencia, Brown, Kevin M., Hofmann, Jonathan N., Rhee, Jongeun, Yeager, Meredith, Cole, Nathan R., Hicks, Belynda D., Manning, Michelle R., Hutchinson, Amy A., Rothman, Nathaniel, Huang, Wen-Yi, Linehan, W. Marston, Lori, Adriana, Ferragu, Matthieu, Zidane-Marinnes, Merzouka, Serrano, Sérgio V., Magnabosco, Wesley J., Vilas, Ana, Decia, Ricardo, Carusso, Florencia, Graham, Laura S., Anderson, Kyra, Bilen, Mehmet A., Arciero, Cletus, Pellegrin, Isabelle, Ricard, Solène, Scelo, Ghislaine, Banks, Rosamonde E., Vasudev, Naveen S., Soomro, Naeem, Stewart, Grant D., Adeyoju, Adebanji, Bromage, Stephen, Hrouda, David, Gibbons, Norma, Patel, Poulam, Sullivan, Mark, Protheroe, Andrew, Nugent, Francesca I., Fournier, Michelle J., Zhang, Xiaoyu, Martin, Lisa J., Komisarenko, Maria, Eisen, Timothy, Cunningham, Sonia A., Connolly, Denise C., Uzzo, Robert G., Zaridze, David, Mukeria, Anush, Holcatova, Ivana, Hornakova, Anna, Foretova, Lenka, Janout, Vladimir, Mates, Dana, Jinga, Viorel, Rascu, Stefan, Mijuskovic, Mirjana, Savic, Slavisa, Milosavljevic, Sasa, Gaborieau, Valérie, Abedi-Ardekani, Behnoush, McKay, James, Johansson, Mattias, Phouthavongsy, Larry, Hayman, Lindsay, Li, Jason, Lungu, Ilinca, Bezerra, Stephania M., Souza, Aline G., Sares, Claudia T. G., Reis, Rodolfo B., Gallucci, Fabio P., Cordeiro, Mauricio D., Pomerantz, Mark, Lee, Gwo-Shu M., Freedman, Matthew L., Jeong, Anhyo, Greenberg, Samantha E., Sanchez, Alejandro, Thompson, R. Houston, Sharma, Vidit, Thiel, David D., Ball, Colleen T., Abreu, Diego, Lam, Elaine T., Nahas, William C., Master, Viraj A., Patel, Alpa V., Bernhard, Jean-Christophe, Freedman, Neal D., Bigot, Pierre, Reis, Rui M., Colli, Leandro M., Finelli, Antonio, Manley, Brandon J., Terao, Chikashi, Choueiri, Toni K., Carraro, Dirce M., Houlston, Richard, Eckel-Passow, Jeanette E., Abbosh, Philip H., Ganna, Andrea, Brennan, Paul, Gu, Jian, and Chanock, Stephen J.

Published
2024
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4. Transcriptome- and proteome-wide association studies identify genes associated with renal cell carcinoma

Author

Purdue, Mark P., Dutta, Diptavo, Machiela, Mitchell J., Gorman, Bryan R., Winter, Timothy, Okuhara, Dayne, Cleland, Sara, Ferreiro-Iglesias, Aida, Scheet, Paul, Liu, Aoxing, Wu, Chao, Antwi, Samuel O., Larkin, James, Zequi, Stênio C., Sun, Maxine, Hikino, Keiko, Hajiran, Ali, Lawson, Keith A., Cárcano, Flavio, Blanchet, Odile, Shuch, Brian, Nepple, Kenneth G., Margue, Gaëlle, Sundi, Debasish, Diver, W. Ryan, Folgueira, Maria A.A.K., van Bokhoven, Adrie, Neffa, Florencia, Brown, Kevin M., Hofmann, Jonathan N., Rhee, Jongeun, Yeager, Meredith, Cole, Nathan R., Hicks, Belynda D., Manning, Michelle R., Hutchinson, Amy A., Rothman, Nathaniel, Huang, Wen-Yi, Linehan, W. Marston, Lori, Adriana, Ferragu, Matthieu, Zidane-Marinnes, Merzouka, Serrano, Sérgio, Magnabosco, Wesley J., BioBank Japan Project Consortium, Vilas, Ana, Decia, Ricardo, Carusso, Florencia, Graham, Laura S., Anderson, Kyra, Bilen, Mehmet A., Arciero, Cletus, Pellegrin, Isabelle, Ricard, Solène, FinnGen, Scelo, Ghislaine, Banks, Rosamonde E., Vasudev, Naveen S., Soomro, Naeem, Stewart, Grant D., Adeyoju, Adebanji, Bromage, Stephen, Hrouda, David, Gibbons, Norma, Patel, Poulam, Sullivan, Mark, Protheroe, Andrew, Nugent, Francesca I., Fournier, Michelle J., Zhang, Xiaoyu, Martin, Lisa J., Komisarenko, Maria, Eisen, Timothy, Cunningham, Sonia A., Connolly, Denise C., Uzzo, Robert G., Zaridze, David, Mukeria, Anush, Holcatova, Ivana, Hornakova, Anna, Foretova, Lenka, Janout, Vladimir, Mates, Dana, Jinga, Viorel, Rascu, Stefan, Mijuskovic, Mirjana, Savic, Slavisa, Milosavljevic, Sasa, Gaborieau, Valérie, Abedi-Ardekani, Behnoush, McKay, James, Johansson, Mattias, Phouthavongsy, Larry, Hayman, Lindsay, Li, Jason, Lungu, Ilinca, Bezerra, Stephania M., de Souza, Aline G., Sares, Claudia T.G., Reis, Rodolfo B., Gallucci, Fabio P., Cordeiro, Mauricio D., Pomerantz, Mark, Lee, Gwo-Shu M., Freedman, Matthew L., Jeong, Anhyo, Greenberg, Samantha E., Sanchez, Alejandro, Thompson, R. Houston, Sharma, Vidit, Thiel, David D., Ball, Colleen T., Abreu, Diego, Lam, Elaine T., Nahas, William C., Master, Viraj A., Patel, Alpa V., Bernhard, Jean-Christophe, Freedman, Neal D., Bigot, Pierre, Reis, Rui M., Colli, Leandro M., Finelli, Antonio, Manley, Brandon J., Terao, Chikashi, Choueiri, Toni K., Carraro, Dirce M., Houlston, Richard, Eckel-Passow, Jeanette E., Abbosh, Philip H., Ganna, Andrea, Brennan, Paul, Gu, Jian, Chanock, Stephen J., Guo, Xinyu, Winter, Timothy D., Jahagirdar, Om, Ha, Eunji, and Susztak, Katalin

Published
2024
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5. Insights into the mechanisms and structure of breakage-fusion-bridge cycles in cervical cancer using long-read sequencing

Author

Rodriguez, Isabel, Rossi, Nicole M., Keskus, Ayse G., Xie, Yi, Ahmad, Tanveer, Bryant, Asher, Lou, Hong, Paredes, Jesica Godinez, Milano, Rose, Rao, Nina, Tulsyan, Sonam, Boland, Joseph F., Luo, Wen, Liu, Jia, O’Hanlon, Tim, Bess, Jazmyn, Mukhina, Vera, Gaykalova, Daria, Yuki, Yuko, Malik, Laksh, Billingsley, Kimberley J., Blauwendraat, Cornelis, Carrington, Mary, Yeager, Meredith, Mirabello, Lisa, Kolmogorov, Mikhail, and Dean, Michael

Published
2024
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6. Mosaic chromosomal alterations in peripheral blood leukocytes of children in sub-Saharan Africa

Author

Zhou, Weiyin, Fischer, Anja, Ogwang, Martin D., Luo, Wen, Kerchan, Patrick, Reynolds, Steven J., Tenge, Constance N., Were, Pamela A., Kuremu, Robert T., Wekesa, Walter N., Masalu, Nestory, Kawira, Esther, Kinyera, Tobias, Otim, Isaac, Legason, Ismail D., Nabalende, Hadijah, Ayers, Leona W., Bhatia, Kishor, Goedert, James J., Gouveia, Mateus H., Cole, Nathan, Hicks, Belynda, Jones, Kristine, Hummel, Michael, Schlesner, Mathias, Chagaluka, George, Mutalima, Nora, Borgstein, Eric, Liomba, George N., Kamiza, Steve, Mkandawire, Nyengo, Mitambo, Collins, Molyneux, Elizabeth M., Newton, Robert, Glaser, Selina, Kretzmer, Helene, Manning, Michelle, Hutchinson, Amy, Hsing, Ann W., Tettey, Yao, Adjei, Andrew A., Chanock, Stephen J., Siebert, Reiner, Yeager, Meredith, Prokunina-Olsson, Ludmila, Machiela, Mitchell J., and Mbulaiteye, Sam M.

Published
2023
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7. Genome-wide association study of lung adenocarcinoma in East Asia and comparison with a European population

Author

Shi, Jianxin, Shiraishi, Kouya, Choi, Jiyeon, Matsuo, Keitaro, Chen, Tzu-Yu, Dai, Juncheng, Hung, Rayjean J., Chen, Kexin, Shu, Xiao-Ou, Kim, Young Tae, Landi, Maria Teresa, Lin, Dongxin, Zheng, Wei, Yin, Zhihua, Zhou, Baosen, Song, Bao, Wang, Jiucun, Seow, Wei Jie, Song, Lei, Chang, I-Shou, Hu, Wei, Chien, Li-Hsin, Cai, Qiuyin, Hong, Yun-Chul, Kim, Hee Nam, Wu, Yi-Long, Wong, Maria Pik, Richardson, Brian Douglas, Funderburk, Karen M., Li, Shilan, Zhang, Tongwu, Breeze, Charles, Wang, Zhaoming, Blechter, Batel, Bassig, Bryan A., Kim, Jin Hee, Albanes, Demetrius, Wong, Jason Y. Y., Shin, Min-Ho, Chung, Lap Ping, Yang, Yang, An, She-Juan, Zheng, Hong, Yatabe, Yasushi, Zhang, Xu-Chao, Kim, Young-Chul, Caporaso, Neil E., Chang, Jiang, Ho, James Chung Man, Kubo, Michiaki, Daigo, Yataro, Song, Minsun, Momozawa, Yukihide, Kamatani, Yoichiro, Kobayashi, Masashi, Okubo, Kenichi, Honda, Takayuki, Hosgood, Dean H., Kunitoh, Hideo, Patel, Harsh, Watanabe, Shun-ichi, Miyagi, Yohei, Nakayama, Haruhiko, Matsumoto, Shingo, Horinouchi, Hidehito, Tsuboi, Masahiro, Hamamoto, Ryuji, Goto, Koichi, Ohe, Yuichiro, Takahashi, Atsushi, Goto, Akiteru, Minamiya, Yoshihiro, Hara, Megumi, Nishida, Yuichiro, Takeuchi, Kenji, Wakai, Kenji, Matsuda, Koichi, Murakami, Yoshinori, Shimizu, Kimihiro, Suzuki, Hiroyuki, Saito, Motonobu, Ohtaki, Yoichi, Tanaka, Kazumi, Wu, Tangchun, Wei, Fusheng, Dai, Hongji, Machiela, Mitchell J., Su, Jian, Kim, Yeul Hong, Oh, In-Jae, Lee, Victor Ho Fun, Chang, Gee-Chen, Tsai, Ying-Huang, Chen, Kuan-Yu, Huang, Ming-Shyan, Su, Wu-Chou, Chen, Yuh-Min, Seow, Adeline, Park, Jae Yong, Kweon, Sun-Seog, Chen, Kun-Chieh, Gao, Yu-Tang, Qian, Biyun, Wu, Chen, Lu, Daru, Liu, Jianjun, Schwartz, Ann G., Houlston, Richard, Spitz, Margaret R., Gorlov, Ivan P., Wu, Xifeng, Yang, Ping, Lam, Stephen, Tardon, Adonina, Chen, Chu, Bojesen, Stig E., Johansson, Mattias, Risch, Angela, Bickeböller, Heike, Ji, Bu-Tian, Wichmann, H-Erich, Christiani, David C., Rennert, Gadi, Arnold, Susanne, Brennan, Paul, McKay, James, Field, John K., Shete, Sanjay S., Le Marchand, Loic, Liu, Geoffrey, Andrew, Angeline, Kiemeney, Lambertus A., Zienolddiny-Narui, Shan, Grankvist, Kjell, Johansson, Mikael, Cox, Angela, Taylor, Fiona, Yuan, Jian-Min, Lazarus, Philip, Schabath, Matthew B., Aldrich, Melinda C., Jeon, Hyo-Sung, Jiang, Shih Sheng, Sung, Jae Sook, Chen, Chung-Hsing, Hsiao, Chin-Fu, Jung, Yoo Jin, Guo, Huan, Hu, Zhibin, Burdett, Laurie, Yeager, Meredith, Hutchinson, Amy, Hicks, Belynda, Liu, Jia, Zhu, Bin, Berndt, Sonja I., Wu, Wei, Wang, Junwen, Li, Yuqing, Choi, Jin Eun, Park, Kyong Hwa, Sung, Sook Whan, Liu, Li, Kang, Chang Hyun, Wang, Wen-Chang, Xu, Jun, Guan, Peng, Tan, Wen, Yu, Chong-Jen, Yang, Gong, Sihoe, Alan Dart Loon, Chen, Ying, Choi, Yi Young, Kim, Jun Suk, Yoon, Ho-Il, Park, In Kyu, Xu, Ping, He, Qincheng, Wang, Chih-Liang, Hung, Hsiao-Han, Vermeulen, Roel C. H., Cheng, Iona, Wu, Junjie, Lim, Wei-Yen, Tsai, Fang-Yu, Chan, John K. C., Li, Jihua, Chen, Hongyan, Lin, Hsien-Chih, Jin, Li, Liu, Jie, Sawada, Norie, Yamaji, Taiki, Wyatt, Kathleen, Li, Shengchao A., Ma, Hongxia, Zhu, Meng, Wang, Zhehai, Cheng, Sensen, Li, Xuelian, Ren, Yangwu, Chao, Ann, Iwasaki, Motoki, Zhu, Junjie, Jiang, Gening, Fei, Ke, Wu, Guoping, Chen, Chih-Yi, Chen, Chien-Jen, Yang, Pan-Chyr, Yu, Jinming, Stevens, Victoria L., Fraumeni, Jr, Joseph F., Chatterjee, Nilanjan, Gorlova, Olga Y., Hsiung, Chao Agnes, Amos, Christopher I., Shen, Hongbing, Chanock, Stephen J., Rothman, Nathaniel, Kohno, Takashi, and Lan, Qing

Published
2023
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9. GWAS Explorer: an open-source tool to explore, visualize, and access GWAS summary statistics in the PLCO Atlas

Author

Machiela, Mitchell J., Huang, Wen-Yi, Wong, Wendy, Berndt, Sonja I., Sampson, Joshua, De Almeida, Jonas, Abubakar, Mustapha, Hislop, Jada, Chen, Kai-Ling, Dagnall, Casey, Diaz-Mayoral, Norma, Ferrell, Mary, Furr, Michael, Gonzalez, Alex, Hicks, Belynda, Hubbard, Aubrey K., Hutchinson, Amy, Jiang, Kevin, Jones, Kristine, Liu, Jia, Loftfield, Erikka, Loukissas, Jennifer, Mabie, Jerome, Merkle, Shannon, Miller, Eric, Minasian, Lori M., Nordgren, Ellen, Park, Brian, Pinsky, Paul, Riley, Thomas, Sandoval, Lorena, Saxena, Neeraj, Vogt, Aurelie, Wang, Jiahui, Williams, Craig, Wright, Patrick, Yeager, Meredith, Zhu, Bin, Zhu, Claire, Chanock, Stephen J., Garcia-Closas, Montserrat, and Freedman, Neal D.

Published
2023
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11. Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes

Author

Berndt, Sonja I., Vijai, Joseph, Benavente, Yolanda, Camp, Nicola J., Nieters, Alexandra, Wang, Zhaoming, Smedby, Karin E., Kleinstern, Geffen, Hjalgrim, Henrik, Besson, Caroline, Skibola, Christine F., Morton, Lindsay M., Brooks-Wilson, Angela R., Teras, Lauren R., Breeze, Charles, Arias, Joshua, Adami, Hans-Olov, Albanes, Demetrius, Anderson, Kenneth C., Ansell, Stephen M., Bassig, Bryan, Becker, Nikolaus, Bhatti, Parveen, Birmann, Brenda M., Boffetta, Paolo, Bracci, Paige M., Brennan, Paul, Brown, Elizabeth E., Burdett, Laurie, Cannon-Albright, Lisa A., Chang, Ellen T., Chiu, Brian C. H., Chung, Charles C., Clavel, Jacqueline, Cocco, Pierluigi, Colditz, Graham, Conde, Lucia, Conti, David V., Cox, David G., Curtin, Karen, Casabonne, Delphine, De Vivo, Immaculata, Diepstra, Arjan, Diver, W. Ryan, Dogan, Ahmet, Edlund, Christopher K., Foretova, Lenka, Fraumeni, Jr, Joseph F., Gabbas, Attilio, Ghesquières, Hervé, Giles, Graham G., Glaser, Sally, Glenn, Martha, Glimelius, Bengt, Gu, Jian, Habermann, Thomas M., Haiman, Christopher A., Haioun, Corinne, Hofmann, Jonathan N., Holford, Theodore R., Holly, Elizabeth A., Hutchinson, Amy, Izhar, Aalin, Jackson, Rebecca D., Jarrett, Ruth F., Kaaks, Rudolph, Kane, Eleanor, Kolonel, Laurence N., Kong, Yinfei, Kraft, Peter, Kricker, Anne, Lake, Annette, Lan, Qing, Lawrence, Charles, Li, Dalin, Liebow, Mark, Link, Brian K., Magnani, Corrado, Maynadie, Marc, McKay, James, Melbye, Mads, Miligi, Lucia, Milne, Roger L., Molina, Thierry J., Monnereau, Alain, Montalvan, Rebecca, North, Kari E., Novak, Anne J., Onel, Kenan, Purdue, Mark P., Rand, Kristin A., Riboli, Elio, Riby, Jacques, Roman, Eve, Salles, Gilles, Sborov, Douglas W., Severson, Richard K., Shanafelt, Tait D., Smith, Martyn T., Smith, Alexandra, Song, Kevin W., Song, Lei, Southey, Melissa C., Spinelli, John J., Staines, Anthony, Stephens, Deborah, Sutherland, Heather J., Tkachuk, Kaitlyn, Thompson, Carrie A., Tilly, Hervé, Tinker, Lesley F., Travis, Ruth C., Turner, Jenny, Vachon, Celine M., Vajdic, Claire M., Van Den Berg, Anke, Van Den Berg, David J., Vermeulen, Roel C. H., Vineis, Paolo, Wang, Sophia S., Weiderpass, Elisabete, Weiner, George J., Weinstein, Stephanie, Doo, Nicole Wong, Ye, Yuanqing, Yeager, Meredith, Yu, Kai, Zeleniuch-Jacquotte, Anne, Zhang, Yawei, Zheng, Tongzhang, Ziv, Elad, Sampson, Joshua, Chatterjee, Nilanjan, Offit, Kenneth, Cozen, Wendy, Wu, Xifeng, Cerhan, James R., Chanock, Stephen J., Slager, Susan L., and Rothman, Nathaniel

Published
2022
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12. Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding

Author

Lee, Olivia W., Rodrigues, Calvin, Lin, Shu-Hong, Luo, Wen, Jones, Kristine, Brown, Derek W., Zhou, Weiyin, Karlins, Eric, Khan, Sairah M., Baulande, Sylvain, Raynal, Virginie, Surdez, Didier, Reynaud, Stephanie, Rubio, Rebeca Alba, Zaidi, Sakina, Grossetête, Sandrine, Ballet, Stelly, Lapouble, Eve, Laurence, Valérie, Pierron, Gaelle, Gaspar, Nathalie, Corradini, Nadège, Marec-Bérard, Perrine, Rothman, Nathaniel, Dagnall, Casey L., Burdett, Laurie, Manning, Michelle, Wyatt, Kathleen, Yeager, Meredith, Chari, Raj, Leisenring, Wendy M., Kulozik, Andreas E., Kriebel, Jennifer, Meitinger, Thomas, Strauch, Konstantin, Kirchner, Thomas, Dirksen, Uta, Mirabello, Lisa, Tucker, Margaret A., Tirode, Franck, Armstrong, Gregory T., Bhatia, Smita, Robison, Leslie L., Yasui, Yutaka, Romero-Pérez, Laura, Hartmann, Wolfgang, Metzler, Markus, Diver, W. Ryan, Lori, Adriana, Freedman, Neal D., Hoover, Robert N., Morton, Lindsay M., Chanock, Stephen J., Grünewald, Thomas G.P., Delattre, Olivier, and Machiela, Mitchell J.

Published
2023
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13. Glyphosate Use and Mosaic Loss of Chromosome Y among Male Farmers in the Agricultural Health Study

Author

Chang, Vicky C., Zhou, Weiyin, Berndt, Sonja I., Andreotti, Gabriella, Yeager, Meredith, Parks, Christine G., Sandler, Dale P., Rothman, Nathaniel, Freeman, Laura E. Beane, Machiela, Mitchell J., and Hofmann, Jonathan N.

Subjects
Oncology, Experimental, Glyphosate -- Usage -- Health aspects, Cancer -- Risk factors -- Environmental aspects -- Research, DNA damage -- Research, Occupational health and safety -- Research, Farmers -- Health aspects -- Genetic aspects, Y chromosome -- Health aspects, Environmental issues, Health
Abstract

BACKGROUND: Glyphosate is the most commonly used herbicide worldwide and has been implicated in the development of certain hematologic cancers. Although mechanistic studies in human cells and animals support the genotoxic effects of glyphosate, evidence in human populations is scarce. OBJECTIVES: We evaluated the association between lifetime occupational glyphosate use and mosaic loss of chromosome Y (mLOY) as a marker of genotoxicity among male farmers. METHODS: We analyzed blood-derived DNA from 1,606 farmers [greater than or equal to]50 years of age in the Biomarkers of Exposure and Effect in Agriculture study, a subcohort of the Agricultural Health Study. mLOY was detected using genotyping array intensity data in the pseudoautosomal region of the sex chromosomes. Cumulative lifetime glyphosate use was assessed using self-reported pesticide exposure histories. Using multivariable logistic regression, we estimated odds ratios (ORs) and 95% confidence intervals (CIs) for the associations between glyphosate use and any detectable mLOY (overall mLOY) or mLOY affecting [greater than or equal to]10% of cells (expanded mLOY). RESULTS: Overall, mLOY was detected in 21.4% of farmers, and 9.8% of all farmers had expanded mLOY. Increasing total lifetime days of glyphosate use was associated with expanded mLOY [highest vs. lowest quartile; OR = 1.75 (95% CI: 1.00, 3.07), [p.sub.trend] = 0.03] but not with overall mLOY; the associations with expanded mLOY were most apparent among older ([greater than or equal to]70 years of age) men [OR = 2.30 (95% CI: 1.13, 4.67), [p.sub.trend] = 0.01], never smokers [OR = 2.32 (95% CI: 1.04, 5.21), [p.sub.trend] = 0.04], and nonobese men [OR = 2.04 (95% CI: 0.99, 4.19), [p.sub.trend] =0.03]. Similar patterns of associations were observed for intensity-weighted lifetime days of glyphosate use. DISCUSSION: High lifetime glyphosate use could be associated with mLOY affecting a larger fraction of cells, suggesting glyphosate could confer genotoxic or selective effects relevant for clonal expansion. As the first study to investigate this association, our findings contribute novel evidence regarding the carcinogenic potential of glyphosate and require replication in future studies. https://doi.org/10.1289/EHP12834, Introduction Glyphosate is a broad-spectrum, post-emergent herbicide used in both agricultural and nonagricultural settings worldwide. (1) Since it was first registered for use in 1974, glyphosate has become the most [...]

Published
2023
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14. Correction: Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes

Author

Berndt, Sonja I., Vijai, Joseph, Benavente, Yolanda, Camp, Nicola J., Nieters, Alexandra, Wang, Zhaoming, Smedby, Karin E., Kleinstern, Geffen, Hjalgrim, Henrik, Besson, Caroline, Skibola, Christine F., Morton, Lindsay M., Brooks-Wilson, Angela R., Teras, Lauren R., Breeze, Charles, Arias, Joshua, Adami, Hans-Olov, Albanes, Demetrius, Anderson, Kenneth C., Ansell, Stephen M., Bassig, Bryan, Becker, Nikolaus, Bhatti, Parveen, Birmann, Brenda M., Boffetta, Paolo, Bracci, Paige M., Brennan, Paul, Brown, Elizabeth E., Burdett, Laurie, Cannon-Albright, Lisa A., Chang, Ellen T., Chiu, Brian C. H., Chung, Charles C., Clavel, Jacqueline, Cocco, Pierluigi, Colditz, Graham, Conde, Lucia, Conti, David V., Cox, David G., Curtin, Karen, Casabonne, Delphine, De Vivo, Immaculata, Diepstra, Arjan, Diver, W. Ryan, Dogan, Ahmet, Edlund, Christopher K., Foretova, Lenka, Fraumeni, Jr, Joseph F., Gabbas, Attilio, Ghesquières, Hervé, Giles, Graham G., Glaser, Sally, Glenn, Martha, Glimelius, Bengt, Gu, Jian, Habermann, Thomas M., Haiman, Christopher A., Haioun, Corinne, Hofmann, Jonathan N., Holford, Theodore R., Holly, Elizabeth A., Hutchinson, Amy, Izhar, Aalin, Jackson, Rebecca D., Jarrett, Ruth F., Kaaks, Rudolph, Kane, Eleanor, Kolonel, Laurence N., Kong, Yinfei, Kraft, Peter, Kricker, Anne, Lake, Annette, Lan, Qing, Lawrence, Charles, Li, Dalin, Liebow, Mark, Link, Brian K., Magnani, Corrado, Maynadie, Marc, McKay, James, Melbye, Mads, Miligi, Lucia, Milne, Roger L., Molina, Thierry J., Monnereau, Alain, Montalvan, Rebecca, North, Kari E., Novak, Anne J., Onel, Kenan, Purdue, Mark P., Rand, Kristin A., Riboli, Elio, Riby, Jacques, Roman, Eve, Salles, Gilles, Sborov, Douglas W., Severson, Richard K., Shanafelt, Tait D., Smith, Martyn T., Smith, Alexandra, Song, Kevin W., Song, Lei, Southey, Melissa C., Spinelli, John J., Staines, Anthony, Stephens, Deborah, Sutherland, Heather J., Tkachuk, Kaitlyn, Thompson, Carrie A., Tilly, Hervé, Tinker, Lesley F., Travis, Ruth C., Turner, Jenny, Vachon, Celine M., Vajdic, Claire M., Van Den Berg, Anke, Van Den Berg, David J., Vermeulen, Roel C. H., Vineis, Paolo, Wang, Sophia S., Weiderpass, Elisabete, Weiner, George J., Weinstein, Stephanie, Doo, Nicole Wong, Ye, Yuanqing, Yeager, Meredith, Yu, Kai, Zeleniuch-Jacquotte, Anne, Zhang, Yawei, Zheng, Tongzhang, Ziv, Elad, Sampson, Joshua, Chatterjee, Nilanjan, Offit, Kenneth, Cozen, Wendy, Wu, Xifeng, Cerhan, James R., Chanock, Stephen J., Slager, Susan L., and Rothman, Nathaniel

Published
2023
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15. Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries

Author

Banday, A. Rouf, Stanifer, Megan L., Florez-Vargas, Oscar, Onabajo, Olusegun O., Papenberg, Brenen W., Zahoor, Muhammad A., Mirabello, Lisa, Ring, Timothy J., Lee, Chia-Han, Albert, Paul S., Andreakos, Evangelos, Arons, Evgeny, Barsh, Greg, Biesecker, Leslie G., Boyle, David L., Brahier, Mark S., Burnett-Hartman, Andrea, Carrington, Mary, Chang, Euijin, Choe, Pyoeng Gyun, Chisholm, Rex L., Colli, Leandro M., Dalgard, Clifton L., Dude, Carolynn M., Edberg, Jeff, Erdmann, Nathan, Feigelson, Heather S., Fonseca, Benedito A., Firestein, Gary S., Gehring, Adam J., Guo, Cuncai, Ho, Michelle, Holland, Steven, Hutchinson, Amy A., Im, Hogune, Irby, Les’Shon, Ison, Michael G., Joseph, Naima T., Kim, Hong Bin, Kreitman, Robert J., Korf, Bruce R., Lipkin, Steven M., Mahgoub, Siham M., Mohammed, Iman, Paschoalini, Guilherme L., Pacheco, Jennifer A., Peluso, Michael J., Rader, Daniel J., Redden, David T., Ritchie, Marylyn D., Rosenblum, Brooke, Ross, M. Elizabeth, Anna, Hanaisa P. Sant, Savage, Sharon A., Sharma, Sudha, Siouti, Eleni, Smith, Alicia K., Triantafyllia, Vasiliki, Vargas, Joselin M., Vargas, Jose D., Verma, Anurag, Vij, Vibha, Wesemann, Duane R., Yeager, Meredith, Yu, Xu, Zhang, Yu, Boulant, Steeve, Chanock, Stephen J., Feld, Jordan J., and Prokunina-Olsson, Ludmila

Published
2022
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16. Evaluation of TypeSeq, a Novel High-Throughput, Low-Cost, Next-Generation Sequencing-Based Assay for Detection of 51 Human Papillomavirus Genotypes

Author

Wagner, Sarah, Roberson, David, Boland, Joseph, Kreimer, Aimée R, Yeager, Meredith, Cullen, Michael, Mirabello, Lisa, Dunn, S Terence, Walker, Joan, Zuna, Rosemary, Porras, Carolina, Cortes, Bernal, Sampson, Joshua, Herrero, Rolando, Rodriguez, Ana Cecilia, Quint, Wim, Van Doorn, Leen-Jan, José, San, González, Paula, Jiménez, Silvia E, Rodríguez, Ana Cecilia, Hildesheim, Allan, Lowy, Douglas R, Schiffman, Mark, Schiller, John T, Sherman, Mark, Wacholder, Sholom, Pinto, Ligia A, Kemp, Troy J, Sidawy, Mary K, van Doorn, Leen-Jan, Struijk, Linda, Palefsky, Joel M, Darragh, Teresa M, Stoler, Mark H, and Wentzensen, Nicolas

Subjects
Reproductive Medicine, Biomedical and Clinical Sciences, Biological Sciences, Infectious Diseases, Prevention, Vaccine Related, Cervical Cancer, Biotechnology, Genetics, Cancer, HIV/AIDS, Sexually Transmitted Infections, Immunization, Adolescent, Adult, Aged, Aged, 80 and over, Costa Rica, Costs and Cost Analysis, Cross-Sectional Studies, Female, Genotype, Genotyping Techniques, High-Throughput Nucleotide Sequencing, Humans, Middle Aged, Papillomaviridae, Papillomavirus Infections, Papillomavirus Vaccines, Uterine Cervical Neoplasms, Young Adult, HPV, TypeSeq, vaccine efficacy, genotyping, screening, CVT Group, Medical and Health Sciences, Microbiology, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundHuman papillomaviruses (HPV) cause over 500 000 cervical cancers each year, most of which occur in low-resource settings. Human papillomavirus genotyping is important to study natural history and vaccine efficacy. We evaluated TypeSeq, a novel, next-generation, sequencing-based assay that detects 51 HPV genotypes, in 2 large international epidemiologic studies.MethodsTypeSeq was evaluated in 2804 cervical specimens from the Study to Understand Cervical Cancer Endpoints and Early Determinants (SUCCEED) and in 2357 specimens from the Costa Rica Vaccine Trial (CVT). Positive agreement and risks of precancer for individual genotypes were calculated for TypeSeq in comparison to Linear Array (SUCCEED). In CVT, positive agreement and vaccine efficacy were calculated for TypeSeq and SPF10-LiPA.ResultsWe observed high overall and positive agreement for most genotypes between TypeSeq and Linear Array in SUCCEED and SPF10-LiPA in CVT. There was no significant difference in risk of precancer between TypeSeq and Linear Array in SUCCEED or in estimates of vaccine efficacy between TypeSeq and SPF10-LiPA in CVT.ConclusionsThe agreement of TypeSeq with Linear Array and SPF10-LiPA, 2 well established standards for HPV genotyping, demonstrates its high accuracy. TypeSeq provides high-throughput, affordable HPV genotyping for world-wide studies of cervical precancer risk and of HPV vaccine efficacy.

Published
2019

18. Age‐specific genome‐wide association study in glioblastoma identifies increased proportion of ‘lower grade glioma’‐like features associated with younger age

Author

Ostrom, Quinn T, Kinnersley, Ben, Armstrong, Georgina, Rice, Terri, Chen, Yanwen, Wiencke, John K, McCoy, Lucie S, Hansen, Helen M, Amos, Christopher I, Bernstein, Jonine L, Claus, Elizabeth B, Eckel‐Passow, Jeanette E, Il'yasova, Dora, Johansen, Christoffer, Lachance, Daniel H, Lai, Rose K, Merrell, Ryan T, Olson, Sara H, Sadetzki, Siegal, Schildkraut, Joellen M, Shete, Sanjay, Rubin, Joshua B, Andersson, Ulrika, Rajaraman, Preetha, Chanock, Stephen J, Linet, Martha S, Wang, Zhaoming, Yeager, Meredith, consortium, on behalf of the GliomaScan, Houlston, Richard S, Jenkins, Robert B, Wrensch, Margaret R, Melin, Beatrice, Bondy, Melissa L, and Barnholtz‐Sloan, Jill S

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Brain Cancer, Rare Diseases, Neurosciences, Brain Disorders, Genetics, Cancer, Human Genome, Adolescent, Adult, Age Factors, Aged, Brain Neoplasms, Case-Control Studies, Female, Genome-Wide Association Study, Glioblastoma, Humans, Male, Middle Aged, Neoplasm Grading, Polymorphism, Single Nucleotide, Young Adult, glioma, brain tumors, age, GliomaScan consortium, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

Glioblastoma (GBM) is the most common malignant brain tumor in the United States. Incidence of GBM increases with age, and younger age-at-diagnosis is significantly associated with improved prognosis. While the relationship between candidate GBM risk SNPs and age-at-diagnosis has been explored, genome-wide association studies (GWAS) have not previously been stratified by age. Potential age-specific genetic effects were assessed in autosomal SNPs for GBM patients using data from four previous GWAS. Using age distribution tertiles (18-53, 54-64, 65+) datasets were analyzed using age-stratified logistic regression to generate p values, odds ratios (OR), and 95% confidence intervals (95%CI), and then combined using meta-analysis. There were 4,512 total GBM cases, and 10,582 controls used for analysis. Significant associations were detected at two previously identified SNPs in 7p11.2 (rs723527 [p54-63 = 1.50x10-9 , OR54-63 = 1.28, 95%CI54-63 = 1.18-1.39; p64+ = 2.14x10-11 , OR64+ = 1.32, 95%CI64+ = 1.21-1.43] and rs11979158 [p54-63 = 6.13x10-8 , OR54-63 = 1.35, 95%CI54-63 = 1.21-1.50; p64+ = 2.18x10-10 , OR64+ = 1.42, 95%CI64+ = 1.27-1.58]) but only in persons >54. There was also a significant association at the previously identified lower grade glioma (LGG) risk locus at 8q24.21 (rs55705857) in persons ages 18-53 (p18-53 = 9.30 × 10-11 , OR18-53 = 1.76, 95%CI18-53 = 1.49-2.10). Within The Cancer Genome Atlas (TCGA) there was higher prevalence of 'LGG'-like tumor characteristics in GBM samples in those 18-53, with IDH1/2 mutation frequency of 15%, as compared to 2.1% [54-63] and 0.8% [64+] (p = 0.0005). Age-specific differences in cancer susceptibility can provide important clues to etiology. The association of a SNP known to confer risk for IDH1/2 mutant glioma and higher prevalence of IDH1/2 mutation within younger individuals 18-53 suggests that more younger individuals may present initially with 'secondary glioblastoma.'

Published
2018

19. Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21.

Author

Ostrom, Quinn T, Kinnersley, Ben, Wrensch, Margaret R, Eckel-Passow, Jeanette E, Armstrong, Georgina, Rice, Terri, Chen, Yanwen, Wiencke, John K, McCoy, Lucie S, Hansen, Helen M, Amos, Christopher I, Bernstein, Jonine L, Claus, Elizabeth B, Il'yasova, Dora, Johansen, Christoffer, Lachance, Daniel H, Lai, Rose K, Merrell, Ryan T, Olson, Sara H, Sadetzki, Siegal, Schildkraut, Joellen M, Shete, Sanjay, Rubin, Joshua B, Lathia, Justin D, Berens, Michael E, Andersson, Ulrika, Rajaraman, Preetha, Chanock, Stephen J, Linet, Martha S, Wang, Zhaoming, Yeager, Meredith, GliomaScan consortium, Houlston, Richard S, Jenkins, Robert B, Melin, Beatrice, Bondy, Melissa L, and Barnholtz-Sloan, Jill S

Subjects
GliomaScan consortium, Chromosomes, Human, Pair 3, Chromosomes, Human, Pair 7, Chromosomes, Human, Pair 8, Humans, Glioma, Brain Neoplasms, Genetic Predisposition to Disease, Logistic Models, Odds Ratio, Risk Factors, Case-Control Studies, Sex Factors, Genotype, Polymorphism, Single Nucleotide, Alleles, Adult, Middle Aged, Female, Male, Genome-Wide Association Study, Neurosciences, Human Genome, Genetics, Prevention, Rare Diseases, Brain Cancer, Cancer, Brain Disorders
Abstract

Incidence of glioma is approximately 50% higher in males. Previous analyses have examined exposures related to sex hormones in women as potential protective factors for these tumors, with inconsistent results. Previous glioma genome-wide association studies (GWAS) have not stratified by sex. Potential sex-specific genetic effects were assessed in autosomal SNPs and sex chromosome variants for all glioma, GBM and non-GBM patients using data from four previous glioma GWAS. Datasets were analyzed using sex-stratified logistic regression models and combined using meta-analysis. There were 4,831 male cases, 5,216 male controls, 3,206 female cases and 5,470 female controls. A significant association was detected at rs11979158 (7p11.2) in males only. Association at rs55705857 (8q24.21) was stronger in females than in males. A large region on 3p21.31 was identified with significant association in females only. The identified differences in effect of risk variants do not fully explain the observed incidence difference in glioma by sex.

Published
2018

20. Germline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosis

Author

Brown, Derek W., Zhou, Weiyin, Wang, Youjin, Jones, Kristine, Luo, Wen, Dagnall, Casey, Teshome, Kedest, Klein, Alyssa, Zhang, Tongwu, Lin, Shu-Hong, Lee, Olivia W., Khan, Sairah, Vo, Jacqueline B., Hutchinson, Amy, Liu, Jia, Wang, Jiahui, Zhu, Bin, Hicks, Belynda, Martin, Andrew St., Spellman, Stephen R., Wang, Tao, Deeg, H. Joachim, Gupta, Vikas, Lee, Stephanie J., Freedman, Neal D., Yeager, Meredith, Chanock, Stephen J., Savage, Sharon A., Saber, Wael, Gadalla, Shahinaz M., and Machiela, Mitchell J.

Published
2022
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21. The genetic structure and adaptation of Andean highlanders and Amazonians are influenced by the interplay between geography and culture

Author

Borda, Víctor, Alvim, Isabela, Mendes, Marla, Silva-Carvalho, Carolina, Soares-Souza, Giordano B., Leal, Thiago P., Furlan, Vinicius, Scliar, Marilia O., Zamudio, Roxana, Zolini, Camila, Araújo, Gilderlanio S., Luizon, Marcelo R., Padilla, Carlos, Cáceres, Omar, Levano, Kelly, Sánchez, César, Trujillo, Omar, Flores-Villanueva, Pedro O., Dean, Michael, Fuselli, Silvia, Machado, Moara, Romero, Pedro E., Tassi, Francesca, Yeager, Meredith, O’Connor, Timothy D., Gilman, Robert H., Tarazona-Santos, Eduardo, and Guio, Heinner

Published
2020

22. Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors

Author

Melin, Beatrice S, Barnholtz-Sloan, Jill S, Wrensch, Margaret R, Johansen, Christoffer, Il'yasova, Dora, Kinnersley, Ben, Ostrom, Quinn T, Labreche, Karim, Chen, Yanwen, Armstrong, Georgina, Liu, Yanhong, Eckel-Passow, Jeanette E, Decker, Paul A, Labussière, Marianne, Idbaih, Ahmed, Hoang-Xuan, Khe, Di Stefano, Anna-Luisa, Mokhtari, Karima, Delattre, Jean-Yves, Broderick, Peter, Galan, Pilar, Gousias, Konstantinos, Schramm, Johannes, Schoemaker, Minouk J, Fleming, Sarah J, Herms, Stefan, Heilmann, Stefanie, Nöthen, Markus M, Wichmann, Heinz-Erich, Schreiber, Stefan, Swerdlow, Anthony, Lathrop, Mark, Simon, Matthias, Sanson, Marc, Andersson, Ulrika, Rajaraman, Preetha, Chanock, Stephen, Linet, Martha, Wang, Zhaoming, Yeager, Meredith, Wiencke, John K, Hansen, Helen, McCoy, Lucie, Rice, Terri, Kosel, Matthew L, Sicotte, Hugues, Amos, Christopher I, Bernstein, Jonine L, Davis, Faith, Lachance, Dan, Lau, Ching, Merrell, Ryan T, Shildkraut, Joellen, Ali-Osman, Francis, Sadetzki, Siegal, Scheurer, Michael, Shete, Sanjay, Lai, Rose K, Claus, Elizabeth B, Olson, Sara H, Jenkins, Robert B, Houlston, Richard S, and Bondy, Melissa L

Subjects
Biological Sciences, Genetics, Rare Diseases, Human Genome, Brain Disorders, Cancer, Neurosciences, Prevention, Brain Cancer, Alleles, Brain Neoplasms, Gene Expression Regulation, Neoplastic, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Glioblastoma, Glioma, Humans, Meta-Analysis as Topic, Polymorphism, Single Nucleotide, Quantitative Trait Loci, GliomaScan Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Genome-wide association studies (GWAS) have transformed our understanding of glioma susceptibility, but individual studies have had limited power to identify risk loci. We performed a meta-analysis of existing GWAS and two new GWAS, which totaled 12,496 cases and 18,190 controls. We identified five new loci for glioblastoma (GBM) at 1p31.3 (rs12752552; P = 2.04 × 10-9, odds ratio (OR) = 1.22), 11q14.1 (rs11233250; P = 9.95 × 10-10, OR = 1.24), 16p13.3 (rs2562152; P = 1.93 × 10-8, OR = 1.21), 16q12.1 (rs10852606; P = 1.29 × 10-11, OR = 1.18) and 22q13.1 (rs2235573; P = 1.76 × 10-10, OR = 1.15), as well as eight loci for non-GBM tumors at 1q32.1 (rs4252707; P = 3.34 × 10-9, OR = 1.19), 1q44 (rs12076373; P = 2.63 × 10-10, OR = 1.23), 2q33.3 (rs7572263; P = 2.18 × 10-10, OR = 1.20), 3p14.1 (rs11706832; P = 7.66 × 10-9, OR = 1.15), 10q24.33 (rs11598018; P = 3.39 × 10-8, OR = 1.14), 11q21 (rs7107785; P = 3.87 × 10-10, OR = 1.16), 14q12 (rs10131032; P = 5.07 × 10-11, OR = 1.33) and 16p13.3 (rs3751667; P = 2.61 × 10-9, OR = 1.18). These data substantiate that genetic susceptibility to GBM and non-GBM tumors are highly distinct, which likely reflects different etiology.

Published
2017

23. Pre-HCT mosaicism increases relapse risk and lowers survival in acute lymphoblastic leukemia patients post–unrelated HCT

Author

Wang, Yiwen, Zhou, Weiyin, Wang, Junke, Karaesmen, Ezgi, Tang, Hancong, McCarthy, Philip L., Pasquini, Marcelo C., Wang, Youjin, McReynolds, Lisa J., Katki, Hormuzd A., Machiela, Mitchell J., Yeager, Meredith, Pooler, Loreall, Sheng, Xin, Haiman, Christopher A., Van Den Berg, David, Spellman, Stephen R., Wang, Tao, Kuxhausen, Michelle, Chanock, Stephen J., Lee, Stephanie J., Clay-Gilmour, Alyssa I., Hahn, Theresa E., Gadalla, Shahinaz M., and Sucheston-Campbell, Lara E.

Published
2021
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24. Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass and fat mass indexes

Author

Scliar, Marilia O., Sant’Anna, Hanaisa P., Santolalla, Meddly L., Leal, Thiago P., Araújo, Nathalia M., Alvim, Isabela, Borda, Victor, Magalhães, Wagner C. S., Gouveia, Mateus H., Lyra, Ricardo, Machado, Moara, Michelin, Lucas, Rodrigues, Maíra R., Araújo, Gilderlanio S., Kehdy, Fernanda S. G., Zolini, Camila, Peixoto, Sérgio V., Luizon, Marcelo R., Lobo, Francisco, Naslavsky, Michel S., Yamamoto, Guilherme L., Duarte, Yeda A. O., Hansen, Matthew E. B., Norris, Shane A., Gilman, Robert H., Guio, Heinner, Hsing, Ann W., Mbulaiteye, Sam M., Mensah, James, Dutil, Julie, Yeager, Meredith, Yeboah, Edward, Tishkoff, Sarah A., Choudhury, Ananyo, Ramsay, Michele, Passos-Bueno, Maria Rita, Zatz, Mayana, O´Connor, Timothy D., Pereira, Alexandre C., Barreto, Mauricio L., Lima-Costa, Maria Fernanda, Horta, Bernardo L., and Tarazona-Santos, Eduardo

Published
2021
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25. Endemic Burkitt Lymphoma in second-degree relatives in Northern Uganda: in-depth genome-wide analysis suggests clues about genetic susceptibility

Author

Gouveia, Mateus H., Otim, Isaac, Ogwang, Martin D., Wang, Mingyi, Zhu, Bin, Cole, Nathan, Luo, Wen, Hicks, Belynda, Jones, Kristine, Oehl-Huber, Kathrin, Ayers, Leona W., Pittaluga, Stefania, Legason, Ismail D., Nabalende, Hadijah, Kerchan, Patrick, Kinyera, Tobias, Kawira, Esther, Brubaker, Glen, Levin, Arthur G., Guertler, Lutz, Kim, Jung, Stewart, Douglas R., Adde, Melissa, Magrath, Ian, Bergen, Andrew W., Reynolds, Steven J., Yeager, Meredith, Bhatia, Kishor, Adeyemo, Adebowale A., Prokunina-Olsson, Ludmila, Dean, Michael, Shriner, Daniel, Rotimi, Charles N., Chanock, Stephen, Siebert, Reiner, and Mbulaiteye, Sam M.

Published
2021
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26. Human leukocyte antigen-DQA1*04:01 and rs2040406 variants are associated with elevated risk of childhood Burkitt lymphoma

Author

Liu, Zhiwei, primary, Luo, Yang, additional, Kirimunda, Samuel, additional, Verboom, Murielle, additional, Onabajo, Olusegun O., additional, Gouveia, Mateus H., additional, Ogwang, Martin D., additional, Kerchan, Patrick, additional, Reynolds, Steven J., additional, Tenge, Constance N., additional, Were, Pamela A., additional, Kuremu, Robert T., additional, Wekesa, Walter N., additional, Masalu, Nestory, additional, Kawira, Esther, additional, Kinyera, Tobias, additional, Otim, Isaac, additional, Legason, Ismail D., additional, Nabalende, Hadijah, additional, Dhudha, Herry, additional, Ayers, Leona W., additional, Bhatia, Kishor, additional, Goedert, James J., additional, Cole, Nathan, additional, Luo, Wen, additional, Liu, Jia, additional, Manning, Michelle, additional, Hicks, Belynda, additional, Prokunina-Olsson, Ludmila, additional, Chagaluka, George, additional, Johnston, W. Thomas, additional, Mutalima, Nora, additional, Borgstein, Eric, additional, Liomba, George N., additional, Kamiza, Steve, additional, Mkandawire, Nyengo, additional, Mitambo, Collins, additional, Molyneux, Elizabeth M., additional, Newton, Robert, additional, Hsing, Ann W., additional, Mensah, James E., additional, Adjei, Anthony A., additional, Hutchinson, Amy, additional, Carrington, Mary, additional, Yeager, Meredith, additional, Blasczyk, Rainer, additional, Chanock, Stephen J., additional, Raychaudhuri, Soumya, additional, and Mbulaiteye, Sam M., additional

Published
2024
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27. Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family

Author

Pathak, Anand, Seipel, Katja, Pemov, Alexander, Dewan, Ramita, Brown, Christina, Ravichandran, Sarangan, Luke, Brian T, Malasky, Michael, Suman, Shalabh, Yeager, Meredith, Laboratory, NCI DCEG Cancer Genomics Research, Group, NCI DCEG Cancer Sequencing Working, Gatti, Richard A, Caporaso, Neil E, Mulvihill, John J, Goldin, Lynn R, Pabst, Thomas, McMaster, Mary L, and Stewart, Douglas R

Subjects
Pediatric, Rare Diseases, Clinical Research, Human Genome, Hematology, Genetics, Cancer, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Alleles, CCAAT-Enhancer-Binding Protein-alpha, Child, Child, Preschool, Exome, Family, Female, Follow-Up Studies, Gene Expression Regulation, Leukemic, Genotype, Germ-Line Mutation, High-Throughput Nucleotide Sequencing, Humans, Leukemia, Myeloid, Acute, Male, Middle Aged, Models, Molecular, Pedigree, Protein Conformation, Protein Interaction Domains and Motifs, Protein Multimerization, Young Adult, NCI DCEG Cancer Genomics Research Laboratory, NCI DCEG Cancer Sequencing Working Group, Immunology
Abstract

Familial acute myeloid leukemia is rare and linked to germline mutations in RUNX1, GATA2 or CCAAT/enhancer binding protein-α (CEBPA). We re-evaluated a large family with acute myeloid leukemia originally seen at NIH in 1969. We used whole exome sequencing to study this family, and conducted in silico bioinformatics analysis, protein structural modeling and laboratory experiments to assess the impact of the identified CEBPA Q311P mutation. Unlike most previously identified germline mutations in CEBPA, which were N-terminal frameshift mutations, we identified a novel Q311P variant that was located in the C-terminal bZip domain of C/EBPα. Protein structural modeling suggested that the Q311P mutation alters the ability of the CEBPA dimer to bind DNA. Electrophoretic mobility shift assays showed that the Q311P mu-tant had attenuated binding to DNA, as predicted by the protein modeling. Consistent with these findings, we found that the Q311P mutation has reduced transactivation, consistent with a loss-of-function mutation. From 45 years of follow up, we observed incomplete penetrance (46%) of CEBPA Q311P. This study of a large multi-generational pedigree reveals that a germline mutation in the C-terminal bZip domain can alter the ability of C/EBP-α to bind DNA and reduces transactivation, leading to acute myeloid leukemia.

Published
2016

28. Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes

Author

Machiela, Mitchell J, Lan, Qing, Slager, Susan L, Vermeulen, Roel CH, Teras, Lauren R, Camp, Nicola J, Cerhan, James R, Spinelli, John J, Wang, Sophia S, Nieters, Alexandra, Vijai, Joseph, Yeager, Meredith, Wang, Zhaoming, Ghesquières, Hervé, McKay, James, Conde, Lucia, de Bakker, Paul IW, Cox, David G, Burdett, Laurie, Monnereau, Alain, Flowers, Christopher R, De Roos, Anneclaire J, Brooks-Wilson, Angela R, Giles, Graham G, Melbye, Mads, Gu, Jian, Jackson, Rebecca D, Kane, Eleanor, Purdue, Mark P, Vajdic, Claire M, Albanes, Demetrius, Kelly, Rachel S, Zucca, Mariagrazia, Bertrand, Kimberly A, Zeleniuch-Jacquotte, Anne, Lawrence, Charles, Hutchinson, Amy, Zhi, Degui, Habermann, Thomas M, Link, Brian K, Novak, Anne J, Dogan, Ahmet, Asmann, Yan W, Liebow, Mark, Thompson, Carrie A, Ansell, Stephen M, Witzig, Thomas E, Tilly, Hervé, Haioun, Corinne, Molina, Thierry J, Hjalgrim, Henrik, Glimelius, Bengt, Adami, Hans-Olov, Roos, Göran, Bracci, Paige M, Riby, Jacques, Smith, Martyn T, Holly, Elizabeth A, Cozen, Wendy, Hartge, Patricia, Morton, Lindsay M, Severson, Richard K, Tinker, Lesley F, North, Kari E, Becker, Nikolaus, Benavente, Yolanda, Boffetta, Paolo, Brennan, Paul, Foretova, Lenka, Maynadie, Marc, Staines, Anthony, Lightfoot, Tracy, Crouch, Simon, Smith, Alex, Roman, Eve, Diver, W Ryan, Offit, Kenneth, Zelenetz, Andrew, Klein, Robert J, Villano, Danylo J, Zheng, Tongzhang, Zhang, Yawei, Holford, Theodore R, Turner, Jenny, Southey, Melissa C, Clavel, Jacqueline, Virtamo, Jarmo, Weinstein, Stephanie, Riboli, Elio, Vineis, Paolo, Kaaks, Rudolph, Boeing, Heiner, Tjønneland, Anne, Angelucci, Emanuele, Di Lollo, Simonetta, Rais, Marco, De Vivo, Immaculata, Giovannucci, Edward, Kraft, Peter, and Huang, Jinyan

Subjects
Clinical Research, Rare Diseases, Genetics, Cancer, Hematology, Lymphoma, Adolescent, Adult, Age Factors, Aged, Aged, 80 and over, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Lymphoma, B-Cell, Male, Middle Aged, Prospective Studies, Telomere, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Evidence from a small number of studies suggests that longer telomere length measured in peripheral leukocytes is associated with an increased risk of non-Hodgkin lymphoma (NHL). However, these studies may be biased by reverse causation, confounded by unmeasured environmental exposures and might miss time points for which prospective telomere measurement would best reveal a relationship between telomere length and NHL risk. We performed an analysis of genetically inferred telomere length and NHL risk in a study of 10 102 NHL cases of the four most common B-cell histologic types and 9562 controls using a genetic risk score (GRS) comprising nine telomere length-associated single-nucleotide polymorphisms. This approach uses existing genotype data and estimates telomere length by weighing the number of telomere length-associated variant alleles an individual carries with the published change in kb of telomere length. The analysis of the telomere length GRS resulted in an association between longer telomere length and increased NHL risk [four B-cell histologic types combined; odds ratio (OR) = 1.49, 95% CI 1.22-1.82,P-value = 8.5 × 10(-5)]. Subtype-specific analyses indicated that chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL/SLL) was the principal NHL subtype contributing to this association (OR = 2.60, 95% CI 1.93-3.51,P-value = 4.0 × 10(-10)). Significant interactions were observed across strata of sex for CLL/SLL and marginal zone lymphoma subtypes as well as age for the follicular lymphoma subtype. Our results indicate that a genetic background that favors longer telomere length may increase NHL risk, particularly risk of CLL/SLL, and are consistent with earlier studies relating longer telomere length with increased NHL risk.

Published
2016

29. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types

Author

Sampson, Joshua N, Wheeler, William A, Yeager, Meredith, Panagiotou, Orestis, Wang, Zhaoming, Berndt, Sonja I, Lan, Qing, Abnet, Christian C, Amundadottir, Laufey T, Figueroa, Jonine D, Landi, Maria Teresa, Mirabello, Lisa, Savage, Sharon A, Taylor, Philip R, De Vivo, Immaculata, McGlynn, Katherine A, Purdue, Mark P, Rajaraman, Preetha, Adami, Hans-Olov, Ahlbom, Anders, Albanes, Demetrius, Amary, Maria Fernanda, An, She-Juan, Andersson, Ulrika, Andriole, Gerald, Andrulis, Irene L, Angelucci, Emanuele, Ansell, Stephen M, Arici, Cecilia, Armstrong, Bruce K, Arslan, Alan A, Austin, Melissa A, Baris, Dalsu, Barkauskas, Donald A, Bassig, Bryan A, Becker, Nikolaus, Benavente, Yolanda, Benhamou, Simone, Berg, Christine, Van Den Berg, David, Bernstein, Leslie, Bertrand, Kimberly A, Birmann, Brenda M, Black, Amanda, Boeing, Heiner, Boffetta, Paolo, Boutron-Ruault, Marie-Christine, Bracci, Paige M, Brinton, Louise, Brooks-Wilson, Angela R, Bueno-de-Mesquita, H Bas, Burdett, Laurie, Buring, Julie, Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chan, John KC, Chang, Ellen T, Chang, Gee-Chen, Chang, I-Shou, Chang, Jiang, Chang-Claude, Jenny, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chu, Chen, Chung-Hsing, Chen, Constance, Chen, Hongyan, Chen, Kexin, Chen, Kuan-Yu, Chen, Kun-Chieh, Chen, Ying, Chen, Ying-Hsiang, Chen, Yi-Song, Chen, Yuh-Min, Chien, Li-Hsin, Chirlaque, María-Dolores, Choi, Jin Eun, Choi, Yi Young, Chow, Wong-Ho, Chung, Charles C, Clavel, Jacqueline, Clavel-Chapelon, Françoise, Cocco, Pierluigi, Colt, Joanne S, Comperat, Eva, Conde, Lucia, Connors, Joseph M, Conti, David, Cortessis, Victoria K, Cotterchio, Michelle, Cozen, Wendy, Crouch, Simon, Crous-Bou, Marta, Cussenot, Olivier, and Davis, Faith G

Subjects
Tobacco, Clinical Research, Urologic Diseases, Lung, Genetics, Rare Diseases, Lung Cancer, Human Genome, Hematology, Cancer, Tobacco Smoke and Health, Prevention, Lymphoma, Adult, Aged, Asian People, Bone Neoplasms, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Kidney Neoplasms, Leukemia, Lymphocytic, Chronic, B-Cell, Lung Neoplasms, Lymphoma, Large B-Cell, Diffuse, Male, Middle Aged, Neoplasms, Osteosarcoma, Polymorphism, Single Nucleotide, Smoking, Testicular Neoplasms, Tissue Array Analysis, Urinary Bladder Neoplasms, White People, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

BackgroundStudies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.MethodsBetween 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers.ResultsGWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, hl (2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (ρ = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (ρ = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (ρ = 0.51, SE =0.18), and bladder and lung (ρ = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures.ConclusionOur results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.

Published
2015

30. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types.

Author

Sampson, Joshua N, Wheeler, William A, Yeager, Meredith, Panagiotou, Orestis, Wang, Zhaoming, Berndt, Sonja I, Lan, Qing, Abnet, Christian C, Amundadottir, Laufey T, Figueroa, Jonine D, Landi, Maria Teresa, Mirabello, Lisa, Savage, Sharon A, Taylor, Philip R, De Vivo, Immaculata, McGlynn, Katherine A, Purdue, Mark P, Rajaraman, Preetha, Adami, Hans-Olov, Ahlbom, Anders, Albanes, Demetrius, Amary, Maria Fernanda, An, She-Juan, Andersson, Ulrika, Andriole, Gerald, Andrulis, Irene L, Angelucci, Emanuele, Ansell, Stephen M, Arici, Cecilia, Armstrong, Bruce K, Arslan, Alan A, Austin, Melissa A, Baris, Dalsu, Barkauskas, Donald A, Bassig, Bryan A, Becker, Nikolaus, Benavente, Yolanda, Benhamou, Simone, Berg, Christine, Van Den Berg, David, Bernstein, Leslie, Bertrand, Kimberly A, Birmann, Brenda M, Black, Amanda, Boeing, Heiner, Boffetta, Paolo, Boutron-Ruault, Marie-Christine, Bracci, Paige M, Brinton, Louise, Brooks-Wilson, Angela R, Bueno-de-Mesquita, H Bas, Burdett, Laurie, Buring, Julie, Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chan, John KC, Chang, Ellen T, Chang, Gee-Chen, Chang, I-Shou, Chang, Jiang, Chang-Claude, Jenny, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chu, Chen, Chung-Hsing, Chen, Constance, Chen, Hongyan, Chen, Kexin, Chen, Kuan-Yu, Chen, Kun-Chieh, Chen, Ying, Chen, Ying-Hsiang, Chen, Yi-Song, Chen, Yuh-Min, Chien, Li-Hsin, Chirlaque, María-Dolores, Choi, Jin Eun, Choi, Yi Young, Chow, Wong-Ho, Chung, Charles C, Clavel, Jacqueline, Clavel-Chapelon, Françoise, Cocco, Pierluigi, Colt, Joanne S, Comperat, Eva, Conde, Lucia, Connors, Joseph M, Conti, David, Cortessis, Victoria K, Cotterchio, Michelle, Cozen, Wendy, Crouch, Simon, Crous-Bou, Marta, Cussenot, Olivier, and Davis, Faith G

Subjects
Humans, Neoplasms, Osteosarcoma, Bone Neoplasms, Testicular Neoplasms, Lung Neoplasms, Kidney Neoplasms, Genetic Predisposition to Disease, Tissue Array Analysis, Smoking, Polymorphism, Single Nucleotide, Adult, Aged, Middle Aged, Asian Continental Ancestry Group, European Continental Ancestry Group, Female, Male, Urinary Bladder Neoplasms, Leukemia, Lymphocytic, Chronic, B-Cell, Lymphoma, Large B-Cell, Diffuse, Genome-Wide Association Study, Polymorphism, Single Nucleotide, Leukemia, Lymphocytic, Chronic, B-Cell, Lymphoma, Large B-Cell, Diffuse, Oncology And Carcinogenesis, Oncology & Carcinogenesis, Oncology and Carcinogenesis
Abstract

BackgroundStudies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.MethodsBetween 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers.ResultsGWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, hl (2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (ρ = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (ρ = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (ρ = 0.51, SE =0.18), and bladder and lung (ρ = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures.ConclusionOur results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.

Published
2015

31. Two susceptibility loci identified for prostate cancer aggressiveness.

Author

Berndt, Sonja I, Wang, Zhaoming, Yeager, Meredith, Alavanja, Michael C, Albanes, Demetrius, Amundadottir, Laufey, Andriole, Gerald, Beane Freeman, Laura, Campa, Daniele, Cancel-Tassin, Geraldine, Canzian, Federico, Cornu, Jean-Nicolas, Cussenot, Olivier, Diver, W Ryan, Gapstur, Susan M, Grönberg, Henrik, Haiman, Christopher A, Henderson, Brian, Hutchinson, Amy, Hunter, David J, Key, Timothy J, Kolb, Suzanne, Koutros, Stella, Kraft, Peter, Le Marchand, Loic, Lindström, Sara, Machiela, Mitchell J, Ostrander, Elaine A, Riboli, Elio, Schumacher, Fred, Siddiq, Afshan, Stanford, Janet L, Stevens, Victoria L, Travis, Ruth C, Tsilidis, Konstantinos K, Virtamo, Jarmo, Weinstein, Stephanie, Wilkund, Fredrik, Xu, Jianfeng, Lilly Zheng, S, Yu, Kai, Wheeler, William, Zhang, Han, African Ancestry Prostate Cancer GWAS Consortium, Sampson, Joshua, Black, Amanda, Jacobs, Kevin, Hoover, Robert N, Tucker, Margaret, and Chanock, Stephen J

Subjects
African Ancestry Prostate Cancer GWAS Consortium, Humans, Prostatic Neoplasms, Neoplasm Invasiveness, Genetic Predisposition to Disease, Case-Control Studies, Male, Genetic Loci, Neoplasm Grading
Abstract

Most men diagnosed with prostate cancer will experience indolent disease; hence, discovering genetic variants that distinguish aggressive from nonaggressive prostate cancer is of critical clinical importance for disease prevention and treatment. In a multistage, case-only genome-wide association study of 12,518 prostate cancer cases, we identify two loci associated with Gleason score, a pathological measure of disease aggressiveness: rs35148638 at 5q14.3 (RASA1, P=6.49 × 10(-9)) and rs78943174 at 3q26.31 (NAALADL2, P=4.18 × 10(-8)). In a stratified case-control analysis, the SNP at 5q14.3 appears specific for aggressive prostate cancer (P=8.85 × 10(-5)) with no association for nonaggressive prostate cancer compared with controls (P=0.57). The proximity of these loci to genes involved in vascular disease suggests potential biological mechanisms worthy of further investigation.

Published
2015

32. A genome-wide association study of marginal zone lymphoma shows association to the HLA region.

Author

Vijai, Joseph, Wang, Zhaoming, Berndt, Sonja I, Skibola, Christine F, Slager, Susan L, de Sanjose, Silvia, Melbye, Mads, Glimelius, Bengt, Bracci, Paige M, Conde, Lucia, Birmann, Brenda M, Wang, Sophia S, Brooks-Wilson, Angela R, Lan, Qing, de Bakker, Paul IW, Vermeulen, Roel CH, Portlock, Carol, Ansell, Stephen M, Link, Brian K, Riby, Jacques, North, Kari E, Gu, Jian, Hjalgrim, Henrik, Cozen, Wendy, Becker, Nikolaus, Teras, Lauren R, Spinelli, John J, Turner, Jenny, Zhang, Yawei, Purdue, Mark P, Giles, Graham G, Kelly, Rachel S, Zeleniuch-Jacquotte, Anne, Ennas, Maria Grazia, Monnereau, Alain, Bertrand, Kimberly A, Albanes, Demetrius, Lightfoot, Tracy, Yeager, Meredith, Chung, Charles C, Burdett, Laurie, Hutchinson, Amy, Lawrence, Charles, Montalvan, Rebecca, Liang, Liming, Huang, Jinyan, Ma, Baoshan, Villano, Danylo J, Maria, Ann, Corines, Marina, Thomas, Tinu, Novak, Anne J, Dogan, Ahmet, Liebow, Mark, Thompson, Carrie A, Witzig, Thomas E, Habermann, Thomas M, Weiner, George J, Smith, Martyn T, Holly, Elizabeth A, Jackson, Rebecca D, Tinker, Lesley F, Ye, Yuanqing, Adami, Hans-Olov, Smedby, Karin E, De Roos, Anneclaire J, Hartge, Patricia, Morton, Lindsay M, Severson, Richard K, Benavente, Yolanda, Boffetta, Paolo, Brennan, Paul, Foretova, Lenka, Maynadie, Marc, McKay, James, Staines, Anthony, Diver, W Ryan, Vajdic, Claire M, Armstrong, Bruce K, Kricker, Anne, Zheng, Tongzhang, Holford, Theodore R, Severi, Gianluca, Vineis, Paolo, Ferri, Giovanni M, Ricco, Rosalia, Miligi, Lucia, Clavel, Jacqueline, Giovannucci, Edward, Kraft, Peter, Virtamo, Jarmo, Smith, Alex, Kane, Eleanor, Roman, Eve, Chiu, Brian CH, Fraumeni, Joseph F, Wu, Xifeng, Cerhan, James R, Offit, Kenneth, and Chanock, Stephen J

Subjects
Humans, Membrane Glycoproteins, Computational Biology, Major Histocompatibility Complex, Genotype, Polymorphism, Single Nucleotide, European Continental Ancestry Group, Lymphoma, B-Cell, Marginal Zone, Genome-Wide Association Study, Butyrophilins, Polymorphism, Single Nucleotide, Lymphoma, B-Cell, Marginal Zone
Abstract

Marginal zone lymphoma (MZL) is the third most common subtype of B-cell non-Hodgkin lymphoma. Here we perform a two-stage GWAS of 1,281 MZL cases and 7,127 controls of European ancestry and identify two independent loci near BTNL2 (rs9461741, P=3.95 × 10(-15)) and HLA-B (rs2922994, P=2.43 × 10(-9)) in the HLA region significantly associated with MZL risk. This is the first evidence that genetic variation in the major histocompatibility complex influences MZL susceptibility.

Published
2015

33. Prognostic impact of pre-transplant chromosomal aberrations in peripheral blood of patients undergoing unrelated donor hematopoietic cell transplant for acute myeloid leukemia

Author

Wang, Youjin, Zhou, Weiyin, McReynolds, Lisa J., Katki, Hormuzd A., Griffiths, Elizabeth A., Thota, Swapna, Machiela, Mitchell J., Yeager, Meredith, McCarthy, Philip, Pasquini, Marcelo, Wang, Junke, Karaesmen, Ezgi, Rizvi, Abbas, Preus, Leah, Tang, Hancong, Wang, Yiwen, Pooler, Loreall, Sheng, Xin, Haiman, Christopher A., Van Den Berg, David, Spellman, Stephen R., Wang, Tao, Kuxhausen, Michelle, Chanock, Stephen J., Lee, Stephanie J., Hahn, Theresa E., Sucheston-Campbell, Lara E., and Gadalla, Shahinaz M.

Published
2021
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35. Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma

Author

Cerhan, James R, Berndt, Sonja I, Vijai, Joseph, Ghesquières, Hervé, McKay, James, Wang, Sophia S, Wang, Zhaoming, Yeager, Meredith, Conde, Lucia, de Bakker, Paul IW, Nieters, Alexandra, Cox, David, Burdett, Laurie, Monnereau, Alain, Flowers, Christopher R, De Roos, Anneclaire J, Brooks-Wilson, Angela R, Lan, Qing, Severi, Gianluca, Melbye, Mads, Gu, Jian, Jackson, Rebecca D, Kane, Eleanor, Teras, Lauren R, Purdue, Mark P, Vajdic, Claire M, Spinelli, John J, Giles, Graham G, Albanes, Demetrius, Kelly, Rachel S, Zucca, Mariagrazia, Bertrand, Kimberly A, Zeleniuch-Jacquotte, Anne, Lawrence, Charles, Hutchinson, Amy, Zhi, Degui, Habermann, Thomas M, Link, Brian K, Novak, Anne J, Dogan, Ahmet, Asmann, Yan W, Liebow, Mark, Thompson, Carrie A, Ansell, Stephen M, Witzig, Thomas E, Weiner, George J, Veron, Amelie S, Zelenika, Diana, Tilly, Hervé, Haioun, Corinne, Molina, Thierry Jo, Hjalgrim, Henrik, Glimelius, Bengt, Adami, Hans-Olov, Bracci, Paige M, Riby, Jacques, Smith, Martyn T, Holly, Elizabeth A, Cozen, Wendy, Hartge, Patricia, Morton, Lindsay M, Severson, Richard K, Tinker, Lesley F, North, Kari E, Becker, Nikolaus, Benavente, Yolanda, Boffetta, Paolo, Brennan, Paul, Foretova, Lenka, Maynadie, Marc, Staines, Anthony, Lightfoot, Tracy, Crouch, Simon, Smith, Alex, Roman, Eve, Diver, W Ryan, Offit, Kenneth, Zelenetz, Andrew, Klein, Robert J, Villano, Danylo J, Zheng, Tongzhang, Zhang, Yawei, Holford, Theodore R, Kricker, Anne, Turner, Jenny, Southey, Melissa C, Clavel, Jacqueline, Virtamo, Jarmo, Weinstein, Stephanie, Riboli, Elio, Vineis, Paolo, Kaaks, Rudolph, Trichopoulos, Dimitrios, Vermeulen, Roel CH, Boeing, Heiner, Tjonneland, Anne, Angelucci, Emanuele, Di Lollo, Simonetta, Rais, Marco, and Birmann, Brenda M

Subjects
Human Genome, Rare Diseases, Genetics, Cancer, Hematology, Lymphoma, Aetiology, 2.1 Biological and endogenous factors, Chromosome Mapping, Computational Biology, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Likelihood Functions, Lymphoma, Large B-Cell, Diffuse, Polymorphism, Single Nucleotide, Quantitative Trait Loci, White People, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Diffuse large B cell lymphoma (DLBCL) is the most common lymphoma subtype and is clinically aggressive. To identify genetic susceptibility loci for DLBCL, we conducted a meta-analysis of 3 new genome-wide association studies (GWAS) and 1 previous scan, totaling 3,857 cases and 7,666 controls of European ancestry, with additional genotyping of 9 promising SNPs in 1,359 cases and 4,557 controls. In our multi-stage analysis, five independent SNPs in four loci achieved genome-wide significance marked by rs116446171 at 6p25.3 (EXOC2; P = 2.33 × 10(-21)), rs2523607 at 6p21.33 (HLA-B; P = 2.40 × 10(-10)), rs79480871 at 2p23.3 (NCOA1; P = 4.23 × 10(-8)) and two independent SNPs, rs13255292 and rs4733601, at 8q24.21 (PVT1; P = 9.98 × 10(-13) and 3.63 × 10(-11), respectively). These data provide substantial new evidence for genetic susceptibility to this B cell malignancy and point to pathways involved in immune recognition and immune function in the pathogenesis of DLBCL.

Published
2014

36. Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region

Author

Skibola, Christine F, Berndt, Sonja I, Vijai, Joseph, Conde, Lucia, Wang, Zhaoming, Yeager, Meredith, de Bakker, Paul IW, Birmann, Brenda M, Vajdic, Claire M, Foo, Jia-Nee, Bracci, Paige M, Vermeulen, Roel CH, Slager, Susan L, de Sanjose, Silvia, Wang, Sophia S, Linet, Martha S, Salles, Gilles, Lan, Qing, Severi, Gianluca, Hjalgrim, Henrik, Lightfoot, Tracy, Melbye, Mads, Gu, Jian, Ghesquières, Hervé, Link, Brian K, Morton, Lindsay M, Holly, Elizabeth A, Smith, Alex, Tinker, Lesley F, Teras, Lauren R, Kricker, Anne, Becker, Nikolaus, Purdue, Mark P, Spinelli, John J, Zhang, Yawei, Giles, Graham G, Vineis, Paolo, Monnereau, Alain, Bertrand, Kimberly A, Albanes, Demetrius, Zeleniuch-Jacquotte, Anne, Gabbas, Attilio, Chung, Charles C, Burdett, Laurie, Hutchinson, Amy, Lawrence, Charles, Montalvan, Rebecca, Liang, Liming, Huang, Jinyan, Ma, Baoshan, Liu, Jianjun, Adami, Hans-Olov, Glimelius, Bengt, Ye, Yuanqing, Nowakowski, Grzegorz S, Dogan, Ahmet, Thompson, Carrie A, Habermann, Thomas M, Novak, Anne J, Liebow, Mark, Witzig, Thomas E, Weiner, George J, Schenk, Maryjean, Hartge, Patricia, De Roos, Anneclaire J, Cozen, Wendy, Zhi, Degui, Akers, Nicholas K, Riby, Jacques, Smith, Martyn T, Lacher, Mortimer, Villano, Danylo J, Maria, Ann, Roman, Eve, Kane, Eleanor, Jackson, Rebecca D, North, Kari E, Diver, W Ryan, Turner, Jenny, Armstrong, Bruce K, Benavente, Yolanda, Boffetta, Paolo, Brennan, Paul, Foretova, Lenka, Maynadie, Marc, Staines, Anthony, McKay, James, Brooks-Wilson, Angela R, Zheng, Tongzhang, Holford, Theodore R, Chamosa, Saioa, Kaaks, Rudolph, Kelly, Rachel S, Ohlsson, Bodil, Travis, Ruth C, Weiderpass, Elisabete, Clavel, Jacqueline, Giovannucci, Edward, Kraft, Peter, and Virtamo, Jarmo

Subjects
Hematology, Cancer, Clinical Research, Human Genome, Lymphoma, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Alleles, Biomarkers, Tumor, Case-Control Studies, Chromosomes, Human, Genetic Predisposition to Disease, Genome-Wide Association Study, HLA Antigens, Haplotypes, Humans, Lymphoma, Follicular, Polymorphism, Single Nucleotide, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Genome-wide association studies (GWASs) of follicular lymphoma (FL) have previously identified human leukocyte antigen (HLA) gene variants. To identify additional FL susceptibility loci, we conducted a large-scale two-stage GWAS in 4,523 case subjects and 13,344 control subjects of European ancestry. Five non-HLA loci were associated with FL risk: 11q23.3 (rs4938573, p = 5.79 × 10(-20)) near CXCR5; 11q24.3 (rs4937362, p = 6.76 × 10(-11)) near ETS1; 3q28 (rs6444305, p = 1.10 × 10(-10)) in LPP; 18q21.33 (rs17749561, p = 8.28 × 10(-10)) near BCL2; and 8q24.21 (rs13254990, p = 1.06 × 10(-8)) near PVT1. In an analysis of the HLA region, we identified four linked HLA-DRβ1 multiallelic amino acids at positions 11, 13, 28, and 30 that were associated with FL risk (pomnibus = 4.20 × 10(-67) to 2.67 × 10(-70)). Additional independent signals included rs17203612 in HLA class II (odds ratio [OR(per-allele)] = 1.44; p = 4.59 × 10(-16)) and rs3130437 in HLA class I (OR(per-allele) = 1.23; p = 8.23 × 10(-9)). Our findings further expand the number of loci associated with FL and provide evidence that multiple common variants outside the HLA region make a significant contribution to FL risk.

Published
2014

37. Polymorphisms of an innate immune gene, toll-like receptor 4, and aggressive prostate cancer risk: a systematic review and meta-analysis.

Author

Weng, Pei-Hsuan, Huang, Yi-Ling, Page, John, Chen, Jen-Hau, Xu, Jianfeng, Koutros, Stella, Berndt, Sonja, Chanock, Stephen, Yeager, Meredith, Eeles, Rosalind, Easton, Douglas, Neal, David, Donovan, Jenny, Hamdy, Freddie, Muir, Kenneth, Giles, Graham, Severi, Gianluca, Smith, Jeffrey, Balistreri, Carmela, Shui, Irene, Chen, Yen-Ching, and Witte, John

Subjects
Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Immunity, Innate, Male, Polymorphism, Single Nucleotide, Prostatic Neoplasms, Toll-Like Receptor 4
Abstract

BACKGROUND: Toll-like receptor 4 (TLR4) is one of the best known TLR members expressed on the surface of several leukocytes and tissue cells and has a key function in detecting pathogen and danger-associated molecular patterns. The role of TLR4 in the pathophysiology of several age-related diseases is also well recognized, such as prostate cancer (PCa). TLR4 polymorphisms have been related to PCa risk, but the relationship between TLR4 genotypes and aggressive PCa risk has not been evaluated by any systematic reviews. METHODS: We performed a systematic review and meta-analysis of candidate-gene and genome-wide association studies analyzing this relationship and included only white population. Considering appropriate criteria, only nine studies were analyzed in the meta-analysis, including 3,937 aggressive PCa and 7,382 controls. RESULTS: Using random effects model, no significant association was found in the ten TLR4 SNPs reported by at least four included studies under any inheritance model (rs2737191, rs1927914, rs10759932, rs1927911, rs11536879, rs2149356, rs4986790, rs11536889, rs7873784, and rs1554973). Pooled estimates from another ten TLR4 SNPs reported by three studies also showed no significant association (rs10759930, rs10116253, rs11536869, rs5030717, rs4986791, rs11536897, rs1927906, rs913930, rs1927905, and rs7045953). Meta-regression revealed that study type was not a significant source of between-study heterogeneity. CONCLUSIONS: TLR4 polymorphisms were not significantly associated with the risk of aggressive PCa.

Published
2014

38. Sickle cell allele HBB‐rs334(T) is associated with decreased risk of childhood Burkitt lymphoma in East Africa

Author

Hong, Hyokyoung G., primary, Gouveia, Mateus H., additional, Ogwang, Martin D., additional, Kerchan, Patrick, additional, Reynolds, Steven J., additional, Tenge, Constance N., additional, Were, Pamela A., additional, Kuremu, Robert T., additional, Wekesa, Walter N., additional, Masalu, Nestory, additional, Kawira, Esther, additional, Kinyera, Tobias, additional, Wang, Xunde, additional, Zhou, Jiefu, additional, Leal, Thiago Peixoto, additional, Otim, Isaac, additional, Legason, Ismail D., additional, Nabalende, Hadijah, additional, Dhudha, Herry, additional, Mumia, Mediatrix, additional, Baker, Francine S., additional, Okusolubo, Temiloluwa, additional, Ayers, Leona W., additional, Bhatia, Kishor, additional, Goedert, James J., additional, Woo, Joshua, additional, Manning, Michelle, additional, Cole, Nathan, additional, Luo, Wen, additional, Hicks, Belynda, additional, Chagaluka, George, additional, Johnston, W. Thomas, additional, Mutalima, Nora, additional, Borgstein, Eric, additional, Liomba, George N., additional, Kamiza, Steve, additional, Mkandawire, Nyengo, additional, Mitambo, Collins, additional, Molyneux, Elizabeth M., additional, Newton, Robert, additional, Hutchinson, Amy, additional, Yeager, Meredith, additional, Adeyemo, Adebowale A., additional, Thein, Swee Lay, additional, Rotimi, Charles N., additional, Chanock, Stephen J., additional, Prokunina‐Olsson, Ludmila, additional, and Mbulaiteye, Sam M., additional

Published
2023
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40. Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

Author

Berndt, Sonja I, Skibola, Christine F, Joseph, Vijai, Camp, Nicola J, Nieters, Alexandra, Wang, Zhaoming, Cozen, Wendy, Monnereau, Alain, Wang, Sophia S, Kelly, Rachel S, Lan, Qing, Teras, Lauren R, Chatterjee, Nilanjan, Chung, Charles C, Yeager, Meredith, Brooks-Wilson, Angela R, Hartge, Patricia, Purdue, Mark P, Birmann, Brenda M, Armstrong, Bruce K, Cocco, Pierluigi, Zhang, Yawei, Severi, Gianluca, Zeleniuch-Jacquotte, Anne, Lawrence, Charles, Burdette, Laurie, Yuenger, Jeffrey, Hutchinson, Amy, Jacobs, Kevin B, Call, Timothy G, Shanafelt, Tait D, Novak, Anne J, Kay, Neil E, Liebow, Mark, Wang, Alice H, Smedby, Karin E, Adami, Hans-Olov, Melbye, Mads, Glimelius, Bengt, Chang, Ellen T, Glenn, Martha, Curtin, Karen, Cannon-Albright, Lisa A, Jones, Brandt, Diver, W Ryan, Link, Brian K, Weiner, George J, Conde, Lucia, Bracci, Paige M, Riby, Jacques, Holly, Elizabeth A, Smith, Martyn T, Jackson, Rebecca D, Tinker, Lesley F, Benavente, Yolanda, Becker, Nikolaus, Boffetta, Paolo, Brennan, Paul, Foretova, Lenka, Maynadie, Marc, McKay, James, Staines, Anthony, Rabe, Kari G, Achenbach, Sara J, Vachon, Celine M, Goldin, Lynn R, Strom, Sara S, Lanasa, Mark C, Spector, Logan G, Leis, Jose F, Cunningham, Julie M, Weinberg, J Brice, Morrison, Vicki A, Caporaso, Neil E, Norman, Aaron D, Linet, Martha S, De Roos, Anneclaire J, Morton, Lindsay M, Severson, Richard K, Riboli, Elio, Vineis, Paolo, Kaaks, Rudolph, Trichopoulos, Dimitrios, Masala, Giovanna, Weiderpass, Elisabete, Chirlaque, María-Dolores, Vermeulen, Roel CH, Travis, Ruth C, Giles, Graham G, Albanes, Demetrius, Virtamo, Jarmo, Weinstein, Stephanie, Clavel, Jacqueline, Zheng, Tongzhang, Holford, Theodore R, Offit, Kenneth, Zelenetz, Andrew, Klein, Robert J, Spinelli, John J, and Bertrand, Kimberly A

Subjects
Cancer, Case-Control Studies, Chromosomes, Human, Pair 2, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Leukemia, Lymphocytic, Chronic, B-Cell, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Recombination, Genetic, Risk, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Genome-wide association studies (GWAS) have previously identified 13 loci associated with risk of chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL). To identify additional CLL susceptibility loci, we conducted the largest meta-analysis for CLL thus far, including four GWAS with a total of 3,100 individuals with CLL (cases) and 7,667 controls. In the meta-analysis, we identified ten independent associated SNPs in nine new loci at 10q23.31 (ACTA2 or FAS (ACTA2/FAS), P=1.22×10(-14)), 18q21.33 (BCL2, P=7.76×10(-11)), 11p15.5 (C11orf21, P=2.15×10(-10)), 4q25 (LEF1, P=4.24×10(-10)), 2q33.1 (CASP10 or CASP8 (CASP10/CASP8), P=2.50×10(-9)), 9p21.3 (CDKN2B-AS1, P=1.27×10(-8)), 18q21.32 (PMAIP1, P=2.51×10(-8)), 15q15.1 (BMF, P=2.71×10(-10)) and 2p22.2 (QPCT, P=1.68×10(-8)), as well as an independent signal at an established locus (2q13, ACOXL, P=2.08×10(-18)). We also found evidence for two additional promising loci below genome-wide significance at 8q22.3 (ODF1, P=5.40×10(-8)) and 5p15.33 (TERT, P=1.92×10(-7)). Although further studies are required, the proximity of several of these loci to genes involved in apoptosis suggests a plausible underlying biological mechanism.

Published
2013

41. Sex specific associations in genome wide association analysis of renal cell carcinoma

Author

Laskar, Ruhina S., Muller, David C., Li, Peng, Machiela, Mitchell J., Ye, Yuanqing, Gaborieau, Valerie, Foll, Matthieu, Hofmann, Jonathan N., Colli, Leandro, Sampson, Joshua N., Wang, Zhaoming, Bacq-Daian, Delphine, Boland, Anne, Abedi-Ardekani, Behnoush, Durand, Geoffroy, Le Calvez-Kelm, Florence, Robinot, Nivonirina, Blanche, Helene, Prokhortchouk, Egor, Skryabin, Konstantin G., Burdett, Laurie, Yeager, Meredith, Radojevic-Skodric, Sanja, Savic, Slavisa, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Rascu, Stefan, Mukeria, Anush, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Świątkowska, Beata, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Trichopoulou, Antonia, Riboli, Elio, Overvad, Kim, Panico, Salvatore, Ljungberg, Borje, Sitaram, Raviprakash T., Giles, Graham G., Milne, Roger L, Severi, Gianluca, Bruinsma, Fiona, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C., Wolk, Alicja, Banks, Rosamonde E., Selby, Peter J., Easton, Douglas F., Pharoah, Paul, Andreotti, Gabriella, Beane Freeman, Laura E, Koutros, Stella, Albanes, Demetrius, Männistö, Satu, Weinstein, Stephanie, Clark, Peter E., Edwards, Todd L., Lipworth, Loren, Carol, Hallie, Freedman, Matthew L., Pomerantz, Mark M., Cho, Eunyoung, Kraft, Peter, Preston, Mark A., Wilson, Kathryn M., Michael Gaziano, J., Sesso, Howard D., Black, Amanda, Freedman, Neal D., Huang, Wen-Yi, Anema, John G., Kahnoski, Richard J., Lane, Brian R., Noyes, Sabrina L., Petillo, David, Teh, Bin Tean, Peters, Ulrike, White, Emily, Anderson, Garnet L., Johnson, Lisa, Luo, Juhua, Chow, Wong-Ho, Moore, Lee E., Choueiri, Toni K., Wood, Christopher, Johansson, Mattias, McKay, James D., Brown, Kevin M., Rothman, Nathaniel, Lathrop, Mark G., Deleuze, Jean-Francois, Wu, Xifeng, Brennan, Paul, Chanock, Stephen J., Purdue, Mark P., and Scelo, Ghislaine

Published
2019
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42. Genome-wide association study of glioma and meta-analysis

Author

Rajaraman, Preetha, Melin, Beatrice S, Wang, Zhaoming, McKean-Cowdin, Roberta, Michaud, Dominique S, Wang, Sophia S, Bondy, Melissa, Houlston, Richard, Jenkins, Robert B, Wrensch, Margaret, Yeager, Meredith, Ahlbom, Anders, Albanes, Demetrius, Andersson, Ulrika, Freeman, Laura E Beane, Buring, Julie E, Butler, Mary Ann, Braganza, Melissa, Carreon, Tania, Feychting, Maria, Fleming, Sarah J, Gapstur, Susan M, Gaziano, J Michael, Giles, Graham G, Hallmans, Goran, Henriksson, Roger, Hoffman-Bolton, Judith, Inskip, Peter D, Johansen, Christoffer, Kitahara, Cari M, Lathrop, Mark, Liu, Chenwei, Le Marchand, Loic, Linet, Martha S, Lonn, Stefan, Peters, Ulrike, Purdue, Mark P, Rothman, Nathaniel, Ruder, Avima M, Sanson, Marc, Sesso, Howard D, Severi, Gianluca, Shu, Xiao-Ou, Simon, Matthias, Stampfer, Meir, Stevens, Victoria L, Visvanathan, Kala, White, Emily, Wolk, Alicja, Zeleniuch-Jacquotte, Anne, Zheng, Wei, Decker, Paul, Enciso-Mora, Victor, Fridley, Brooke, Gao, Yu-Tang, Kosel, Matthew, Lachance, Daniel H, Lau, Ching, Rice, Terri, Swerdlow, Anthony, Wiemels, Joseph L, Wiencke, John K, Shete, Sanjay, Xiang, Yong-Bing, Xiao, Yuanyuan, Hoover, Robert N, Fraumeni, Joseph F, Chatterjee, Nilanjan, Hartge, Patricia, and Chanock, Stephen J

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Brain Disorders, Prevention, Brain Cancer, Neurosciences, Cancer, Human Genome, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Aged, Brain Neoplasms, Case-Control Studies, Cohort Studies, Cyclin-Dependent Kinase Inhibitor p15, DNA Helicases, Female, Genome-Wide Association Study, Glioblastoma, Glioma, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Telomerase, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity, Reproductive medicine
Abstract

Gliomas account for approximately 80 % of all primary malignant brain tumors and, despite improvements in clinical care over the last 20 years, remain among the most lethal tumors, underscoring the need for gaining new insights that could translate into clinical advances. Recent genome-wide association studies (GWAS) have identified seven new susceptibility regions. We conducted a new independent GWAS of glioma using 1,856 cases and 4,955 controls (from 14 cohort studies, 3 case-control studies, and 1 population-based case-only study) and found evidence of strong replication for three of the seven previously reported associations at 20q13.33 (RTEL), 5p15.33 (TERT), and 9p21.3 (CDKN2BAS), and consistent association signals for the remaining four at 7p11.2 (EGFR both loci), 8q24.21 (CCDC26) and 11q23.3 (PHLDB1). The direction and magnitude of the signal were consistent for samples from cohort and case-control studies, but the strength of the association was more pronounced for loci rs6010620 (20q,13.33; RTEL) and rs2736100 (5p15.33, TERT) in cohort studies despite the smaller number of cases in this group, likely due to relatively more higher grade tumors being captured in the cohort studies. We further examined the 85 most promising single nucleotide polymorphism (SNP) markers identified in our study in three replication sets (5,015 cases and 11,601 controls), but no new markers reached genome-wide significance. Our findings suggest that larger studies focusing on novel approaches as well as specific tumor subtypes or subgroups will be required to identify additional common susceptibility loci for glioma risk.

Published
2012

43. Loci associated with skin pigmentation identified in African populations

Author

Crawford, Nicholas G., Kelly, Derek E., Hansen, Matthew E. B., Beltrame, Marcia H., Fan, Shaohua, Bowman, Shanna L., Jewett, Ethan, Ranciaro, Alessia, Thompson, Simon, Lo, Yancy, Pfeifer, Susanne P., Jensen, Jeffrey D., Campbell, Michael C., Beggs, William, Hormozdiari, Farhad, Mpoloka, Sununguko Wata, Mokone, Gaonyadiwe George, Nyambo, Thomas, Meskel, Dawit Wolde, Belay, Gurja, Haut, Jake, Rothschild, Harriet, Zon, Leonard, Zhou, Yi, Kovacs, Michael A., Xu, Mai, Zhang, Tongwu, Bishop, Kevin, Sinclair, Jason, Rivas, Cecilia, Elliot, Eugene, Choi, Jiyeon, Li, Shengchao A., Hicks, Belynda, Burgess, Shawn, Abnet, Christian, Watkins-Chow, Dawn E., Oceana, Elena, Song, Yun S., Eskin, Eleazar, Brown, Kevin M., Marks, Michael S., Loftus, Stacie K., Pavan, William J., Yeager, Meredith, Chanock, Stephen, and Tishkoff, Sarah A.

Published
2017

44. Glyphosate use and mosaic loss of chromosome Y among male farmers in the Agricultural Health Study

Author

Chang, Vicky C., primary, Zhou, Weiyin, additional, Berndt, Sonja I., additional, Andreotti, Gabriella, additional, Yeager, Meredith, additional, Parks, Christine G., additional, Sandler, Dale P., additional, Rothman, Nathaniel, additional, Freeman, Laura E. Beane, additional, Machiela, Mitchell J., additional, and Hofmann, Jonathan N., additional

Published
2023
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45. Insights into the Mechanisms and Structure of Breakage-Fusion-Bridge Cycles in Cervical Cancer using Long-Read Sequencing

Author

Rodriguez, Isabel, primary, Rossi, Nicole M, additional, Keskus, Ayse, additional, Xie, Yi, additional, Ahmad, Tanveer, additional, Bryant, Asher, additional, Lou, Hong, additional, Godinez Paredes, Jesica, additional, Milano, Rose, additional, Rao, Nina, additional, Tulsyan, Sonam, additional, Boland, Joseph F, additional, Luo, Wen, additional, Liu, Jia, additional, O'Hanlon, Tim, additional, Bess, Jazmyn, additional, Mukhina, Vera, additional, Gaylalova, Daria, additional, Yuki, Yuko, additional, Malik, Laksh, additional, Billingsley, Kimberley, additional, Blauwendraat, Cornelis, additional, Carrington, Mary, additional, Yeager, Meredith, additional, Mirabello, Lisa, additional, Kolmogorov, Mikhail, additional, and Dean, Michael, additional

Published
2023
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49. The genomic and epigenomic evolutionary history of papillary renal cell carcinomas

Author

Zhu, Bin, Poeta, Maria Luana, Costantini, Manuela, Zhang, Tongwu, Shi, Jianxin, Sentinelli, Steno, Zhao, Wei, Pompeo, Vincenzo, Cardelli, Maurizio, Alexandrov, Boian S., Otlu, Burcak, Hua, Xing, Jones, Kristine, Brodie, Seth, Dabrowska, Malgorzata Ewa, Toro, Jorge R., Yeager, Meredith, Wang, Mingyi, Hicks, Belynda, Alexandrov, Ludmil B., Brown, Kevin M., Wedge, David C., Chanock, Stephen, Fazio, Vito Michele, Gallucci, Michele, and Landi, Maria Teresa

Published
2020
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