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Your search keyword '"Gillanders, Elizabeth M"' showing total 30 results
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30 results on '"Gillanders, Elizabeth M"'

1. Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry

Author

Graff, Mariaelisa, Justice, Anne E, Young, Kristin L, Marouli, Eirini, Zhang, Xinruo, Fine, Rebecca S, Lim, Elise, Buchanan, Victoria, Rand, Kristin, Feitosa, Mary F, Wojczynski, Mary K, Yanek, Lisa R, Shao, Yaming, Rohde, Rebecca, Adeyemo, Adebowale A, Aldrich, Melinda C, Allison, Matthew A, Ambrosone, Christine B, Ambs, Stefan, Amos, Christopher, Arnett, Donna K, Atwood, Larry, Bandera, Elisa V, Bartz, Traci, Becker, Diane M, Berndt, Sonja I, Bernstein, Leslie, Bielak, Lawrence F, Blot, William J, Bottinger, Erwin P, Bowden, Donald W, Bradfield, Jonathan P, Brody, Jennifer A, Broeckel, Ulrich, Burke, Gregory, Cade, Brian E, Cai, Qiuyin, Caporaso, Neil, Carlson, Chris, Carpten, John, Casey, Graham, Chanock, Stephen J, Chen, Guanjie, Chen, Minhui, Chen, Yii-Der I, Chen, Wei-Min, Chesi, Alessandra, Chiang, Charleston WK, Chu, Lisa, Coetzee, Gerry A, Conti, David V, Cooper, Richard S, Cushman, Mary, Demerath, Ellen, Deming, Sandra L, Dimitrov, Latchezar, Ding, Jingzhong, Diver, W Ryan, Duan, Qing, Evans, Michele K, Falusi, Adeyinka G, Faul, Jessica D, Fornage, Myriam, Fox, Caroline, Freedman, Barry I, Garcia, Melissa, Gillanders, Elizabeth M, Goodman, Phyllis, Gottesman, Omri, Grant, Struan FA, Guo, Xiuqing, Hakonarson, Hakon, Haritunians, Talin, Harris, Tamara B, Harris, Curtis C, Henderson, Brian E, Hennis, Anselm, Hernandez, Dena G, Hirschhorn, Joel N, McNeill, Lorna Haughton, Howard, Timothy D, Howard, Barbara, Hsing, Ann W, Hsu, Yu-Han H, Hu, Jennifer J, Huff, Chad D, Huo, Dezheng, Ingles, Sue A, Irvin, Marguerite R, John, Esther M, Johnson, Karen C, Jordan, Joanne M, Kabagambe, Edmond K, Kang, Sun J, Kardia, Sharon L, Keating, Brendan J, Kittles, Rick A, Klein, Eric A, Kolb, Suzanne, and Kolonel, Laurence N

Subjects
Human Genome, Genetics, Africa, Black or African American, Black People, Body Height, Europe, Female, Genome-Wide Association Study, Humans, Male, Polymorphism, Single Nucleotide, African ancestry, fine-mapping, genome-wide, height, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Although many loci have been associated with height in European ancestry populations, very few have been identified in African ancestry individuals. Furthermore, many of the known loci have yet to be generalized to and fine-mapped within a large-scale African ancestry sample. We performed sex-combined and sex-stratified meta-analyses in up to 52,764 individuals with height and genome-wide genotyping data from the African Ancestry Anthropometry Genetics Consortium (AAAGC). We additionally combined our African ancestry meta-analysis results with published European genome-wide association study (GWAS) data. In the African ancestry analyses, we identified three novel loci (SLC4A3, NCOA2, ECD/FAM149B1) in sex-combined results and two loci (CRB1, KLF6) in women only. In the African plus European sex-combined GWAS, we identified an additional three novel loci (RCCD1, G6PC3, CEP95) which were equally driven by AAAGC and European results. Among 39 genome-wide significant signals at known loci, conditioning index SNPs from European studies identified 20 secondary signals. Two of the 20 new secondary signals and none of the 8 novel loci had minor allele frequencies (MAF) < 5%. Of 802 known European height signals, 643 displayed directionally consistent associations with height, of which 205 were nominally significant (p < 0.05) in the African ancestry sex-combined sample. Furthermore, 148 of 241 loci contained ≤20 variants in the credible sets that jointly account for 99% of the posterior probability of driving the associations. In summary, trans-ethnic meta-analyses revealed novel signals and further improved fine-mapping of putative causal variants in loci shared between African and European ancestry populations.

Published
2021

2. Genome-wide association study confirms lung cancer susceptibility loci on chromosomes 5p15 and 15q25 in an African-American population

Author

Zanetti, Krista A, Wang, Zhaoming, Aldrich, Melinda, Amos, Christopher I, Blot, William J, Bowman, Elise D, Burdette, Laurie, Cai, Qiuyin, Caporaso, Neil, Chung, Charles C, Gillanders, Elizabeth M, Haiman, Christopher A, Hansen, Helen M, Henderson, Brian E, Kolonel, Laurence N, Le Marchand, Loic, Li, Shengchao, McNeill, Lorna Haughton, Ryan, Bríd M, Schwartz, Ann G, Sison, Jennette D, Spitz, Margaret R, Tucker, Margaret, Wenzlaff, Angela S, Wiencke, John K, Wilkens, Lynne, Wrensch, Margaret R, Wu, Xifeng, Zheng, Wei, Zhou, Weiyin, Christiani, David, Palmer, Julie R, Penning, Trevor M, Rieber, Alyssa G, Rosenberg, Lynn, Ruiz-Narvaez, Edward A, Su, Li, Vachani, Anil, Wei, Yongyue, Whitehead, Alexander S, Chanock, Stephen J, and Harris, Curtis C

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer, Lung, Women's Health, Human Genome, Clinical Research, Prevention, Genetics, Lung Cancer, 2.1 Biological and endogenous factors, Respiratory, Black or African American, Case-Control Studies, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 5, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Lung Neoplasms, Polymorphism, Single Nucleotide, Population Surveillance, Quantitative Trait Loci, Genome-wide association study, Lung neoplasms, Smoking, African Americans, Telomerase, Receptors, Cholinergic, Clinical Sciences, Oncology & Carcinogenesis, Clinical sciences, Oncology and carcinogenesis
Abstract

ObjectivesGenome-wide association studies (GWAS) of lung cancer have identified regions of common genetic variation with lung cancer risk in Europeans who smoke and never-smoking Asian women. This study aimed to conduct a GWAS in African Americans, who have higher rates of lung cancer despite smoking fewer cigarettes per day when compared with Caucasians. This population provides a different genetic architecture based on underlying African ancestry allowing the identification of new regions and exploration of known regions for finer mapping.Materials and methodsWe genotyped 1,024,001 SNPs in 1737 cases and 3602 controls in stage 1, followed by a replication phase of 20 SNPs (p

Published
2016

3. Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

Author

Machiela, Mitchell J, Zhou, Weiyin, Karlins, Eric, Sampson, Joshua N, Freedman, Neal D, Yang, Qi, Hicks, Belynda, Dagnall, Casey, Hautman, Christopher, Jacobs, Kevin B, Abnet, Christian C, Aldrich, Melinda C, Amos, Christopher, Amundadottir, Laufey T, Arslan, Alan A, Beane-Freeman, Laura E, Berndt, Sonja I, Black, Amanda, Blot, William J, Bock, Cathryn H, Bracci, Paige M, Brinton, Louise A, Bueno-de-Mesquita, H Bas, Burdett, Laurie, Buring, Julie E, Butler, Mary A, Canzian, Federico, Carreon, Tania, Chaffee, Kari G, Chang, I-Shou, Chatterjee, Nilanjan, Chen, Chu, Chen, Constance, Chen, Kexin, Chung, Charles C, Cook, Linda S, Bou, Marta Crous, Cullen, Michael, Davis, Faith G, De Vivo, Immaculata, Ding, Ti, Doherty, Jennifer, Duell, Eric J, Epstein, Caroline G, Fan, Jin-Hu, Figueroa, Jonine D, Fraumeni, Joseph F, Friedenreich, Christine M, Fuchs, Charles S, Gallinger, Steven, Gao, Yu-Tang, Gapstur, Susan M, Garcia-Closas, Montserrat, Gaudet, Mia M, Gaziano, J Michael, Giles, Graham G, Gillanders, Elizabeth M, Giovannucci, Edward L, Goldin, Lynn, Goldstein, Alisa M, Haiman, Christopher A, Hallmans, Goran, Hankinson, Susan E, Harris, Curtis C, Henriksson, Roger, Holly, Elizabeth A, Hong, Yun-Chul, Hoover, Robert N, Hsiung, Chao A, Hu, Nan, Hu, Wei, Hunter, David J, Hutchinson, Amy, Jenab, Mazda, Johansen, Christoffer, Khaw, Kay-Tee, Kim, Hee Nam, Kim, Yeul Hong, Kim, Young Tae, Klein, Alison P, Klein, Robert, Koh, Woon-Puay, Kolonel, Laurence N, Kooperberg, Charles, Kraft, Peter, Krogh, Vittorio, Kurtz, Robert C, LaCroix, Andrea, Lan, Qing, Landi, Maria Teresa, Le Marchand, Loic, Li, Donghui, Liang, Xiaolin, Liao, Linda M, Lin, Dongxin, Liu, Jianjun, Lissowska, Jolanta, Lu, Lingeng, Magliocco, Anthony M, and Malats, Nuria

Published
2016

4. Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Author

Landi, Maria Teresa, Bishop, D. Timothy, MacGregor, Stuart, Machiela, Mitchell J., Stratigos, Alexander J., Ghiorzo, Paola, Brossard, Myriam, Calista, Donato, Choi, Jiyeon, Fargnoli, Maria Concetta, Zhang, Tongwu, Rodolfo, Monica, Trower, Adam J., Menin, Chiara, Martinez, Jacobo, Hadjisavvas, Andreas, Song, Lei, Stefanaki, Irene, Scolyer, Richard, Yang, Rose, Goldstein, Alisa M., Potrony, Miriam, Kypreou, Katerina P., Pastorino, Lorenza, Queirolo, Paola, Pellegrini, Cristina, Cattaneo, Laura, Zawistowski, Matthew, Gimenez-Xavier, Pol, Rodriguez, Arantxa, Elefanti, Lisa, Manoukian, Siranoush, Rivoltini, Licia, Smith, Blair H., Loizidou, Maria A., Del Regno, Laura, Massi, Daniela, Mandala, Mario, Khosrotehrani, Kiarash, Akslen, Lars A., Amos, Christopher I., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Soyer, H. Peter, Bataille, Veronique, Dalmasso, Bruna, Bowdler, Lisa M., Burdon, Kathryn P., Chen, Wei V., Codd, Veryan, Craig, Jamie E., Dębniak, Tadeusz, Falchi, Mario, Fang, Shenying, Friedman, Eitan, Simi, Sarah, Galan, Pilar, Garcia-Casado, Zaida, Gillanders, Elizabeth M., Gordon, Scott, Green, Adele, Gruis, Nelleke A., Hansson, Johan, Harland, Mark, Harris, Jessica, Helsing, Per, Henders, Anjali, Hočevar, Marko, Höiom, Veronica, Hunter, David, Ingvar, Christian, Kumar, Rajiv, Lang, Julie, Lathrop, G. Mark, Lee, Jeffrey E., Li, Xin, Lubiński, Jan, Mackie, Rona M., Malt, Maryrose, Malvehy, Josep, McAloney, Kerrie, Mohamdi, Hamida, Molven, Anders, Moses, Eric K., Neale, Rachel E., Novaković, Srdjan, Nyholt, Dale R., Olsson, Håkan, Orr, Nicholas, Fritsche, Lars G., Puig-Butille, Joan Anton, Qureshi, Abrar A., Radford-Smith, Graham L., Randerson-Moor, Juliette, Requena, Celia, Rowe, Casey, Samani, Nilesh J., Sanna, Marianna, Schadendorf, Dirk, Schulze, Hans-Joachim, Simms, Lisa A., Smithers, Mark, Song, Fengju, Swerdlow, Anthony J., van der Stoep, Nienke, Kukutsch, Nicole A., Visconti, Alessia, Wallace, Leanne, Ward, Sarah V., Wheeler, Lawrie, Sturm, Richard A., Hutchinson, Amy, Jones, Kristine, Malasky, Michael, Vogt, Aurelie, Zhou, Weiyin, Pooley, Karen A., Elder, David E., Han, Jiali, Hicks, Belynda, Hayward, Nicholas K., Kanetsky, Peter A., Brummett, Chad, Montgomery, Grant W., Olsen, Catherine M., Hayward, Caroline, Dunning, Alison M., Martin, Nicholas G., Evangelou, Evangelos, Mann, Graham J., Long, Georgina, Pharoah, Paul D. P., Easton, Douglas F., Barrett, Jennifer H., Cust, Anne E., Abecasis, Goncalo, Duffy, David L., Whiteman, David C., Gogas, Helen, De Nicolo, Arcangela, Tucker, Margaret A., Newton-Bishop, Julia A., Peris, Ketty, Chanock, Stephen J., Demenais, Florence, Brown, Kevin M., Puig, Susana, Nagore, Eduardo, Shi, Jianxin, Iles, Mark M., and Law, Matthew H.

Published
2020
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5. Characterization of Large Structural Genetic Mosaicism in Human Autosomes

Author

Machiela, Mitchell J, Zhou, Weiyin, Sampson, Joshua N, Dean, Michael C, Jacobs, Kevin B, Black, Amanda, Brinton, Louise A, Chang, I-Shou, Chen, Chu, Chen, Constance, Chen, Kexin, Cook, Linda S, Bou, Marta Crous, De Vivo, Immaculata, Doherty, Jennifer, Friedenreich, Christine M, Gaudet, Mia M, Haiman, Christopher A, Hankinson, Susan E, Hartge, Patricia, Henderson, Brian E, Hong, Yun-Chul, Hosgood, H Dean, Hsiung, Chao A, Hu, Wei, Hunter, David J, Jessop, Lea, Kim, Hee Nam, Kim, Yeul Hong, Kim, Young Tae, Klein, Robert, Kraft, Peter, Lan, Qing, Lin, Dongxin, Liu, Jianjun, Le Marchand, Loic, Liang, Xiaolin, Lissowska, Jolanta, Lu, Lingeng, Magliocco, Anthony M, Matsuo, Keitaro, Olson, Sara H, Orlow, Irene, Park, Jae Yong, Pooler, Loreall, Prescott, Jennifer, Rastogi, Radhai, Risch, Harvey A, Schumacher, Fredrick, Seow, Adeline, Setiawan, Veronica Wendy, Shen, Hongbing, Sheng, Xin, Shin, Min-Ho, Shu, Xiao-Ou, Berg, David VanDen, Wang, Jiu-Cun, Wentzensen, Nicolas, Wong, Maria Pik, Wu, Chen, Wu, Tangchun, Wu, Yi-Long, Xia, Lucy, Yang, Hannah P, Yang, Pan-Chyr, Zheng, Wei, Zhou, Baosen, Abnet, Christian C, Albanes, Demetrius, Aldrich, Melinda C, Amos, Christopher, Amundadottir, Laufey T, Berndt, Sonja I, Blot, William J, Bock, Cathryn H, Bracci, Paige M, Burdett, Laurie, Buring, Julie E, Butler, Mary A, Carreón, Tania, Chatterjee, Nilanjan, Chung, Charles C, Cook, Michael B, Cullen, Michael, Davis, Faith G, Ding, Ti, Duell, Eric J, Epstein, Caroline G, Fan, Jin-Hu, Figueroa, Jonine D, Fraumeni, Joseph F, Freedman, Neal D, Fuchs, Charles S, Gao, Yu-Tang, Gapstur, Susan M, Patiño-Garcia, Ana, Garcia-Closas, Montserrat, Gaziano, J Michael, Giles, Graham G, and Gillanders, Elizabeth M

Subjects
Biological Sciences, Genetics, Human Genome, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Aged, Chromosome Aberrations, Female, Genome, Human, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Mosaicism, Neoplasms, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals. Merging data from the new TGSII set with data from two prior reports (the Gene-Environment Association Studies and the total GWAS set I) generated a large dataset of 127,179 individuals; we then conducted a meta-analysis to investigate the patterns of detectable autosomal mosaicism (n = 1,315 events in 925 [0.73%] individuals). Restricting to events >2 Mb in size, we observed an increase in event frequency as event size decreased. The combined results underscore that the rate of detectable mosaicism increases with age (p value = 5.5 × 10(-31)) and is higher in men (p value = 0.002) but lower in participants of African ancestry (p value = 0.003). In a subset of 47 individuals from whom serial samples were collected up to 6 years apart, complex changes were noted over time and showed an overall increase in the proportion of mosaic cells as age increased. Our large combined sample allowed for a unique ability to characterize detectable genetic mosaicism involving large structural events and strengthens the emerging evidence of non-random erosion of the genome in the aging population.

Published
2015

6. Genetic Simulation Tools for Post‐Genome Wide Association Studies of Complex Diseases

Author

Chen, Huann-Sheng, Hutter, Carolyn M, Mechanic, Leah E, Amos, Christopher I, Bafna, Vineet, Hauser, Elizabeth R, Hernandez, Ryan D, Li, Chun, Liberles, David A, McAllister, Kimberly, Moore, Jason H, Paltoo, Dina N, Papanicolaou, George J, Peng, Bo, Ritchie, Marylyn D, Rosenfeld, Gabriel, Witte, John S, Gillanders, Elizabeth M, and Feuer, Eric J

Subjects
Genetics, Cancer, Biotechnology, Human Genome, Computer Simulation, Disease, Genome-Wide Association Study, Genomics, Humans, Models, Genetic, Molecular Epidemiology, Software, genetic simulation, rare variants, next-generation sequencing, complex phenotypes, computational resources, Public Health and Health Services, Epidemiology
Abstract

Genetic simulation programs are used to model data under specified assumptions to facilitate the understanding and study of complex genetic systems. Standardized data sets generated using genetic simulation are essential for the development and application of novel analytical tools in genetic epidemiology studies. With continuing advances in high-throughput genomic technologies and generation and analysis of larger, more complex data sets, there is a need for updating current approaches in genetic simulation modeling. To provide a forum to address current and emerging challenges in this area, the National Cancer Institute (NCI) sponsored a workshop, entitled "Genetic Simulation Tools for Post-Genome Wide Association Studies of Complex Diseases" at the National Institutes of Health (NIH) in Bethesda, Maryland on March 11-12, 2014. The goals of the workshop were to (1) identify opportunities, challenges, and resource needs for the development and application of genetic simulation models; (2) improve the integration of tools for modeling and analysis of simulated data; and (3) foster collaborations to facilitate development and applications of genetic simulation. During the course of the meeting, the group identified challenges and opportunities for the science of simulation, software and methods development, and collaboration. This paper summarizes key discussions at the meeting, and highlights important challenges and opportunities to advance the field of genetic simulation.

Published
2015

9. Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

Author

Law, Matthew H, Bishop, D Timothy, Lee, Jeffrey E, Brossard, Myriam, Martin, Nicholas G, Moses, Eric K, Song, Fengju, Barrett, Jennifer H, Kumar, Rajiv, Easton, Douglas F, Pharoah, Paul D P, Swerdlow, Anthony J, Kypreou, Katerina P, Taylor, John C, Harland, Mark, Randerson-Moor, Juliette, Akslen, Lars A, Andresen, Per A, Avril, Marie-Françoise, Azizi, Esther, Scarrà, Giovanna Bianchi, Brown, Kevin M, Dȩbniak, Tadeusz, Duffy, David L, Elder, David E, Fang, Shenying, Friedman, Eitan, Galan, Pilar, Ghiorzo, Paola, Gillanders, Elizabeth M, Goldstein, Alisa M, Gruis, Nelleke A, Hansson, Johan, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Ingvar, Christian, Kanetsky, Peter A, Chen, Wei V, Landi, Maria Teresa, Lang, Julie, Lathrop, G Mark, Lubiński, Jan, Mackie, Rona M, Mann, Graham J, Molven, Anders, Montgomery, Grant W, Novaković, Srdjan, Olsson, Håkan, Puig, Susana, Puig-Butille, Joan Anton, Qureshi, Abrar A, Radford-Smith, Graham L, van der Stoep, Nienke, van Doorn, Remco, Whiteman, David C, Craig, Jamie E, Schadendorf, Dirk, Simms, Lisa A, Burdon, Kathryn P, Nyholt, Dale R, Pooley, Karen A, Orr, Nick, Stratigos, Alexander J, Cust, Anne E, Ward, Sarah V, Hayward, Nicholas K, Han, Jiali, Schulze, Hans-Joachim, Dunning, Alison M, Bishop, Julia A Newton, Demenais, Florence, Amos, Christopher I, MacGregor, Stuart, and Iles, Mark M

Published
2015
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11. Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions

Author

Barrett, Jennifer H., Taylor, John C., Bright, Chloe, Harland, Mark, Dunning, Alison M., Akslen, Lars A., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Bianchi Scarrà, Giovanna, Brossard, Myriam, Brown, Kevin M., Dębniak, Tadeusz, Elder, David E., Friedman, Eitan, Ghiorzo, Paola, Gillanders, Elizabeth M., Gruis, Nelleke A., Hansson, Johan, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Ingvar, Christian, Landi, Maria Teresa, Lang, Julie, Lathrop, Mark G., Lubiński, Jan, Mackie, Rona M., Molven, Anders, Novaković, Srdjan, Olsson, Håkan, Puig, Susana, Puig-Butille, Joan Anton, van der Stoep, Nienke, van Doorn, Remco, van Workum, Wilbert, Goldstein, Alisa M., Kanetsky, Peter A., Pharoah, Paul D. P., Demenais, Florence, Hayward, Nicholas K., Newton Bishop, Julia A., Bishop, Timothy D., and Iles, Mark M.

Published
2015
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12. Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33

Author

Wang, Zhaoming, Zhu, Bin, Zhang, Mingfeng, Parikh, Hemang, Jia, Jinping, Chung, Charles C., Sampson, Joshua N., Hoskins, Jason W., Hutchinson, Amy, Burdette, Laurie, Ibrahim, Abdisamad, Hautman, Christopher, Raj, Preethi S., Abnet, Christian C., Adjei, Andrew A., Ahlbom, Anders, Albanes, Demetrius, Allen, Naomi E., Ambrosone, Christine B., Aldrich, Melinda, Amiano, Pilar, Amos, Christopher, Andersson, Ulrika, Andriole, Gerald, Jr, Andrulis, Irene L., Arici, Cecilia, Arslan, Alan A., Austin, Melissa A., Baris, Dalsu, Barkauskas, Donald A., Bassig, Bryan A., Beane Freeman, Laura E., Berg, Christine D., Berndt, Sonja I., Bertazzi, Pier Alberto, Biritwum, Richard B., Black, Amanda, Blot, William, Boeing, Heiner, Boffetta, Paolo, Bolton, Kelly, Boutron-Ruault, Marie-Christine, Bracci, Paige M., Brennan, Paul, Brinton, Louise A., Brotzman, Michelle, Bueno-de-Mesquita, H. Bas, Buring, Julie E., Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Cao, Guangwen, Caporaso, Neil E., Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chang, Gee-Chen, Chang, I-Shou, Chang-Claude, Jenny, Che, Xu, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chung-Hsing, Chen, Constance, Chen, Kuan-Yu, Chen, Yuh-Min, Chokkalingam, Anand P., Chu, Lisa W., Clavel-Chapelon, Francoise, Colditz, Graham A., Colt, Joanne S., Conti, David, Cook, Michael B., Cortessis, Victoria K., Crawford, E. David, Cussenot, Olivier, Davis, Faith G., De Vivo, Immaculata, Deng, Xiang, Ding, Ti, Dinney, Colin P., Di Stefano, Anna Luisa, Diver, W. Ryan, Duell, Eric J., Elena, Joanne W., Fan, Jin-Hu, Feigelson, Heather Spencer, Feychting, Maria, Figueroa, Jonine D., Flanagan, Adrienne M., Fraumeni, Joseph F., Jr, Freedman, Neal D., Fridley, Brooke L., Fuchs, Charles S., Gago-Dominguez, Manuela, Gallinger, Steven, Gao, Yu-Tang, Gapstur, Susan M., Garcia-Closas, Montserrat, Garcia-Closas, Reina, Gastier-Foster, Julie M., Gaziano, J. Michael, Gerhard, Daniela S., Giffen, Carol A., Giles, Graham G., Gillanders, Elizabeth M., Giovannucci, Edward L., Goggins, Michael, Gokgoz, Nalan, Goldstein, Alisa M., Gonzalez, Carlos, Gorlick, Richard, Greene, Mark H., Gross, Myron, Grossman, H. Barton, Grubb, Robert, III, Gu, Jian, Guan, Peng, Haiman, Christopher A., Hallmans, Goran, Hankinson, Susan E., Harris, Curtis C., Hartge, Patricia, Hattinger, Claudia, Hayes, Richard B., He, Qincheng, Helman, Lee, Henderson, Brian E., Henriksson, Roger, Hoffman-Bolton, Judith, Hohensee, Chancellor, Holly, Elizabeth A., Hong, Yun-Chul, Hoover, Robert N., Hosgood, H. Dean, III, Hsiao, Chin-Fu, Hsing, Ann W., Hsiung, Chao Agnes, Hu, Nan, Hu, Wei, Hu, Zhibin, Huang, Ming-Shyan, Hunter, David J., Inskip, Peter D., Ito, Hidemi, Jacobs, Eric J., Jacobs, Kevin B., Jenab, Mazda, Ji, Bu-Tian, Johansen, Christoffer, Johansson, Mattias, Johnson, Alison, Kaaks, Rudolf, Kamat, Ashish M., Kamineni, Aruna, Karagas, Margaret, Khanna, Chand, Khaw, Kay-Tee, Kim, Christopher, Kim, In-Sam, Kim, Jin Hee, Kim, Yeul Hong, Kim, Young-Chul, Kim, Young Tae, Kang, Chang Hyun, Jung, Yoo Jin, Kitahara, Cari M., Klein, Alison P., Klein, Robert, Kogevinas, Manolis, Koh, Woon-Puay, Kohno, Takashi, Kolonel, Laurence N., Kooperberg, Charles, Kratz, Christian P., Krogh, Vittorio, Kunitoh, Hideo, Kurtz, Robert C., Kurucu, Nilgun, Lan, Qing, Lathrop, Mark, Lau, Ching C., Lecanda, Fernando, Lee, Kyoung-Mu, Lee, Maxwell P., Le Marchand, Loic, Lerner, Seth P., Li, Donghui, Liao, Linda M., Lim, Wei-Yen, Lin, Dongxin, Lin, Jie, Lindstrom, Sara, Linet, Martha S., Lissowska, Jolanta, Liu, Jianjun, Ljungberg, Börje, Lloreta, Josep, Lu, Daru, Ma, Jing, Malats, Nuria, Mannisto, Satu, Marina, Neyssa, Mastrangelo, Giuseppe, Matsuo, Keitaro, McGlynn, Katherine A., McKean-Cowdin, Roberta, McNeill, Lorna H., McWilliams, Robert R., Melin, Beatrice S., Meltzer, Paul S., Mensah, James E., Miao, Xiaoping, Michaud, Dominique S., Mondul, Alison M., Moore, Lee E., Muir, Kenneth, Niwa, Shelley, Olson, Sara H., Orr, Nick, Panico, Salvatore, Park, Jae Yong, Patel, Alpa V., Patino-Garcia, Ana, Pavanello, Sofia, Peeters, Petra H. M., Peplonska, Beata, Peters, Ulrike, Petersen, Gloria M., Picci, Piero, Pike, Malcolm C., Porru, Stefano, Prescott, Jennifer, Pu, Xia, Purdue, Mark P., Qiao, You-Lin, Rajaraman, Preetha, Riboli, Elio, Risch, Harvey A., Rodabough, Rebecca J., Rothman, Nathaniel, Ruder, Avima M., Ryu, Jeong-Seon, Sanson, Marc, Schned, Alan, Schumacher, Fredrick R., Schwartz, Ann G., Schwartz, Kendra L., Schwenn, Molly, Scotlandi, Katia, Seow, Adeline, Serra, Consol, Serra, Massimo, Sesso, Howard D., Severi, Gianluca, Shen, Hongbing, Shen, Min, Shete, Sanjay, Shiraishi, Kouya, Shu, Xiao-Ou, Siddiq, Afshan, Sierrasesumaga, Luis, Sierri, Sabina, Loon Sihoe, Alan Dart, Silverman, Debra T., Simon, Matthias, Southey, Melissa C., Spector, Logan, Spitz, Margaret, Stampfer, Meir, Stattin, Par, Stern, Mariana C., Stevens, Victoria L., Stolzenberg-Solomon, Rachael Z., Stram, Daniel O., Strom, Sara S., Su, Wu-Chou, Sund, Malin, Sung, Sook Whan, Swerdlow, Anthony, Tan, Wen, Tanaka, Hideo, Tang, Wei, Tang, Ze-Zhang, Tardon, Adonina, Tay, Evelyn, Taylor, Philip R., Tettey, Yao, Thomas, David M., Tirabosco, Roberto, Tjonneland, Anne, Tobias, Geoffrey S., Toro, Jorge R., Travis, Ruth C., Trichopoulos, Dimitrios, Troisi, Rebecca, Truelove, Ann, Tsai, Ying-Huang, Tucker, Margaret A., Tumino, Rosario, Van Den Berg, David, Van Den Eeden, Stephen K., Vermeulen, Roel, Vineis, Paolo, Visvanathan, Kala, Vogel, Ulla, Wang, Chaoyu, Wang, Chengfeng, Wang, Junwen, Wang, Sophia S., Weiderpass, Elisabete, Weinstein, Stephanie J., Wentzensen, Nicolas, Wheeler, William, White, Emily, Wiencke, John K., Wolk, Alicja, Wolpin, Brian M., Wong, Maria Pik, Wrensch, Margaret, Wu, Chen, Wu, Tangchun, Wu, Xifeng, Wu, Yi-Long, Wunder, Jay S., Xiang, Yong-Bing, Xu, Jun, Yang, Hannah P., Yang, Pan-Chyr, Yatabe, Yasushi, Ye, Yuanqing, Yeboah, Edward D., Yin, Zhihua, Ying, Chen, Yu, Chong-Jen, Yu, Kai, Yuan, Jian-Min, Zanetti, Krista A., Zeleniuch-Jacquotte, Anne, Zheng, Wei, Zhou, Baosen, Mirabello, Lisa, Savage, Sharon A., Kraft, Peter, Chanock, Stephen J., Yeager, Meredith, Landi, Maria Terese, Shi, Jianxin, Chatterjee, Nilanjan, and Amundadottir, Laufey T.

Published
2014
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14. Epidemiologic Research of Rare Cancers: Trends, Resources, and Challenges

Author

Gallicchio, Lisa, primary, Daee, Danielle L., additional, Rotunno, Melissa, additional, Barajas, Rolando, additional, Fagan, Sarah, additional, Carrick, Danielle M., additional, Divi, Rao L., additional, Filipski, Kelly K., additional, Freedman, Andrew N., additional, Gillanders, Elizabeth M., additional, Lam, Tram K., additional, Martin, Damali N., additional, Rogers, Scott, additional, Verma, Mukesh, additional, and Nelson, Stefanie A., additional

Published
2021
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16. Publisher Correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

Author

Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Lawrence, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Lui, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, Arfan M., Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart, Sturm, Richard A., Hewitt, Alex W., Leenhardt, Jeffrey E., Brossard, Myriam, Moses, Eric K., Song, Fengju, Kumar, Rajiv, Easton, Douglas F., Pharoah, Paul D. P., Swerdlow, Anthony J., Kypreou, Katerina P., Harland, Mark, Randerson-Moor, Juliette, Akslen, Lars A., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Scarrà, Giovanna Bianchi, Brown, Kevin M., Dębniak, Tadeusz, Elder, David E., Fang, Shenying, Friedman, Eitan, Galan, Pilar, Ghiorzo, Paola, Gillanders, Elizabeth M., Goldstein, Alisa M., Gruis, Nelleke A., Hansson, Johan, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Ingvar, Christian, Kanetsky, Peter A., Chen, Wei V., Landi, Maria Teresa, Lang, Julie, Lathrop, G. Mark, Lubiński, Jan, Mackie, Rona M., Mann, Graham J., Molven, Anders, Novaković, Srdjan, Olsson, Håkan, Puig, Susana, Puig-Butille, Joan Anton, Radford-Smith, Graham L., van Doorn, Remco, Whiteman, David C., Craig, Jamie E., Schadendorf, Dirk, Simms, Lisa A., Burdon, Kathryn P., Nyholt, Dale R., Pooley, Karen A., Orr, Nicholas, Stratigos, Alexander J., Cust, Anne E., Ward, Sarah V., Schulze, Hans-Joachim, Dunning, Alison M., Demenais, Florence, Amos, Christopher I., Kayser, Manfred, Hunter, David J., Newton Bishop, Julia A., Spector, Timothy D., Montgomery, Grant W., Mackey, David A., Smith, George Davey, Nijsten, Tamar E., Bishop, D. Timothy, Bataille, Veronique, Falchi, Mario, Han, Jiali, and Martin, Nicholas G.

Subjects
0301 basic medicine, Skin Neoplasms, Medizin, General Physics and Astronomy, 02 engineering and technology, Receptors, G-Protein-Coupled, Guanine Nucleotide Exchange Factors, skin and connective tissue diseases, lcsh:Science, Melanoma, Telomerase, Nevus, Pigmented, Stem Cell Factor, Multidisciplinary, Microfilament Proteins, Nuclear Proteins, RNA-Binding Proteins, Genetic Pleiotropy, 021001 nanoscience & nanotechnology, Publisher Correction, Spelling, Cytochrome P-450 CYP1B1, Interferon Regulatory Factors, 0210 nano-technology, Science, Telomere-Binding Proteins, Nerve Tissue Proteins, Computational biology, Biology, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, Histone Deacetylases, White People, Group VI Phospholipases A2, 03 medical and health sciences, medicine, Nevus, Humans, Genetic Predisposition to Disease, General Chemistry, medicine.disease, Repressor Proteins, MicroRNAs, 030104 developmental biology, RNA, lcsh:Q, Carrier Proteins, Genome-Wide Association Study
Abstract

The total number of acquired melanocytic nevi on the skin is strongly correlated with melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia, Netherlands, UK, and USA comprising 52,506 individuals. We confirm known loci including MTAP, PLA2G6, and IRF4, and detect novel SNPs in KITLG and a region of 9q32. In a bivariate analysis combining the nevus results with a recent melanoma GWAS meta-analysis (12,874 cases, 23,203 controls), SNPs near GPRC5A, CYP1B1, PPARGC1B, HDAC4, FAM208B, DOCK8, and SYNE2 reached global significance, and other loci, including MIR146A and OBFC1, reached a suggestive level. Overall, we conclude that most nevus genes affect melanoma risk (KITLG an exception), while many melanoma risk loci do not alter nevus count. For example, variants in TERC and OBFC1 affect both traits, but other telomere length maintenance genes seem to affect melanoma risk only. Our findings implicate multiple pathways in nevogenesis., Melanocytic nevus count is associated with melanoma risk. In this study, a meta-analysis of 11 nevus GWAS studies identifies novel SNPs in KITLG and 9q32, and bivariate analysis with melanoma GWAS meta-analysis reveals that most nevus genes affect melanoma risk, while melanoma risk loci do not alter the nevus count.

Published
2019

17. Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways (vol 9, 4774, 2018)

Author

Duffy, David L. Zhu, Gu Li, Xin Sanna, Marianna Iles, Mark M. Jacobs, Leonie C. Evans, David M. Yazar, Seyhan and Beesley, Jonathan Law, Matthew H. Kraft, Peter Visconti, Alessia Taylor, John C. Liu, Fan Wright, Margaret J. and Henders, Anjali K. Bowdler, Lisa Glass, Dan Ikram, M. Arfan and Uitterlinden, Andre G. Madden, Pamela A. Heath, Andrew C. and Nelson, Elliot C. Green, Adele C. Chanock, Stephen and Barrett, Jennifer H. Brown, Matthew A. Hayward, Nicholas K. and MacGregor, Stuart Sturm, Richard A. Hewitt, Alex W. Kayser, Manfred Hunter, David J. Bishop, Julia A. Newton Spector, Timothy D. Montgomery, Grant W. Mackey, David A. Smith, George Davey Nijsten, Tamar E. Bishop, D. Timothy Bataille, Veronique Falchi, Mario Han, Jiali Martin, Nicholas G. and Lee, Jeffrey E. Brossard, Myriam Moses, Eric K. Song, Fengju and Kumar, Rajiv Easton, Douglas F. Pharoah, Paul D. P. and Swerdlow, Anthony J. Kypreou, Katerina P. Harland, Mark and Randerson-Moor, Juliette Akslen, Lars A. Andresen, Per A. and Avril, Marie-Francoise Azizi, Esther Scarra, Giovanna Bianchi and Brown, Kevin M. Debniak, Tadeusz Elder, David E. Fang, Shenying Friedman, Eitan Galan, Pilar Ghiorzo, Paola and Gillanders, Elizabeth M. Goldstein, Alisa M. Gruis, Nelleke A. and Hansson, Johan Helsing, Per Hocevar, Marko Hoiom, Veronica Ingvar, Christian Kanetsky, Peter A. Chen, Wei V. and Landi, Maria Teresa Lang, Julie Lathrop, G. Mark and Lubinski, Jan Mackie, Rona M. Mann, Graham J. Molven, Anders and Novakovic, Srdjan Olsson, Hakan Puig, Susana and Puig-Butille, Joan Anton Radford-Smith, Graham L. van der Stoep, Nienke van Doorn, Remco Whiteman, David C. Craig, Jamie E. and Schadendorf, Dirk Simms, Lisa A. Burdon, Kathryn P. and Nyholt, Dale R. Pooley, Karen A. Orr, Nicholas Stratigos, Alexander J. Cust, Anne E. Ward, Sarah V. Schulze, Hans-Joachim Dunning, Alison M. Demenais, Florence Amos, Christopher I. Melanoma GWAS Consortium

Published
2019

19. Abstract LB-161: GAME-ON and OncoArray: Understanding the genetic architecture of cancer risk

Author

Nelson, Stefanie A., primary, Caga-Anan, Charlisse, additional, Daee, Danielle, additional, Costello, Maura Kate, additional, Seminara, Daniela, additional, Amos, Christopher I., additional, Gruber, Stephen B., additional, Haiman, Christopher, additional, Hunter, David, additional, Kraft, Peter, additional, Sellers, Thomas, additional, and Gillanders, Elizabeth M., additional

Published
2017
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20. Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

Author

Law, Matthew H. Bishop, D. Timothy Lee, Jeffrey E. Brossard, Myriam Martin, Nicholas G. Moses, Eric K. Song, Fengju and Barrett, Jennifer H. Kumar, Rajiv Easton, Douglas F. and Pharoah, Paul D. P. Swerdlow, Anthony J. Kypreou, Katerina P. and Taylor, John C. Harland, Mark Randerson-Moor, Juliette and Akslen, Lars A. Andresen, Per A. Avril, Marie-Franoise and Azizi, Esther Scarra, Giovanna Bianchi Brown, Kevin M. and Debniak, Tadeusz Duffy, David L. Elder, David E. Fang, Shenying Friedman, Eitan Galan, Pilar Ghiorzo, Paola and Gillanders, Elizabeth M. Goldstein, Alisa M. Gruis, Nelleke A. and Hansson, Johan Helsing, Per Hocevar, Marko Hoeiom, Veronica Ingvar, Christian Kanetsky, Peter A. Chen, Wei V. and Landi, Maria Teresa Lang, Julie Lathrop, G. Mark and Lubinski, Jan Mackie, Rona M. Mann, Graham J. Molven, Anders and Montgomery, Grant W. Novakovic, Srdjan Olsson, Hakan and Puig, Susana Puig-Butille, Joan Anton Qureshi, Abrar A. and Radford-Smith, Graham L. van der Stoep, Nienke van Doorn, Remco and Whiteman, David C. Craig, Jamie E. Schadendorf, Dirk and Simms, Lisa A. Burdon, Kathryn P. Nyholt, Dale R. Pooley, Karen A. Orr, Nick Stratigos, Alexander J. Cust, Anne E. and Ward, Sarah V. Hayward, Nicholas K. Han, Jiali Schulze, Hans-Joachim Dunning, Alison M. Bishop, Julia A. Newton and Demenais, Florence Amos, Christopher I. MacGregor, Stuart and Iles, Mark M. GenoMEL Consortium Essen-Heidelberg Investigators and SDH Study Grp Q-MEGA QTWIN Investigators AMFS Investigators and ATHENS Melanoma Study Grp

Abstract

Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P < 5 x 10(-8)), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology.

Published
2015

21. Genome-wide association study confirms lung cancer susceptibility loci on chromosomes 5p15 and 15q25 in an African-American population

Author

Zanetti, Krista A., primary, Wang, Zhaoming, additional, Aldrich, Melinda, additional, Amos, Christopher I., additional, Blot, William J., additional, Bowman, Elise D., additional, Burdette, Laurie, additional, Cai, Qiuyin, additional, Caporaso, Neil, additional, Chung, Charles C., additional, Gillanders, Elizabeth M., additional, Haiman, Christopher A., additional, Hansen, Helen M., additional, Henderson, Brian E., additional, Kolonel, Laurence N., additional, Marchand, Loic Le, additional, Li, Shengchao, additional, McNeill, Lorna Haughton, additional, Ryan, Bríd M., additional, Schwartz, Ann G., additional, Sison, Jennette D., additional, Spitz, Margaret R., additional, Tucker, Margaret, additional, Wenzlaff, Angela S., additional, Wiencke, John K., additional, Wilkens, Lynne, additional, Wrensch, Margaret R., additional, Wu, Xifeng, additional, Zheng, Wei, additional, Zhou, Weiyin, additional, Christiani, David, additional, Palmer, Julie R., additional, Penning, Trevor M., additional, Rieber, Alyssa G., additional, Rosenberg, Lynn, additional, Ruiz-Narvaez, Edward A., additional, Su, Li, additional, Vachani, Anil, additional, Wei, Yongyue, additional, Whitehead, Alexander S., additional, Chanock, Stephen J., additional, and Harris, Curtis C., additional

Published
2016
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22. Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

Author

Machiela, Mitchell J., primary, Zhou, Weiyin, additional, Karlins, Eric, additional, Sampson, Joshua N., additional, Freedman, Neal D., additional, Yang, Qi, additional, Hicks, Belynda, additional, Dagnall, Casey, additional, Hautman, Christopher, additional, Jacobs, Kevin B., additional, Abnet, Christian C., additional, Aldrich, Melinda C., additional, Amos, Christopher, additional, Amundadottir, Laufey T., additional, Arslan, Alan A., additional, Beane-Freeman, Laura E., additional, Berndt, Sonja I., additional, Black, Amanda, additional, Blot, William J., additional, Bock, Cathryn H., additional, Bracci, Paige M., additional, Brinton, Louise A., additional, Bueno-de-Mesquita, H Bas, additional, Burdett, Laurie, additional, Buring, Julie E., additional, Butler, Mary A., additional, Canzian, Federico, additional, Carreón, Tania, additional, Chaffee, Kari G., additional, Chang, I-Shou, additional, Chatterjee, Nilanjan, additional, Chen, Chu, additional, Chen, Constance, additional, Chen, Kexin, additional, Chung, Charles C., additional, Cook, Linda S., additional, Crous Bou, Marta, additional, Cullen, Michael, additional, Davis, Faith G., additional, De Vivo, Immaculata, additional, Ding, Ti, additional, Doherty, Jennifer, additional, Duell, Eric J., additional, Epstein, Caroline G., additional, Fan, Jin-Hu, additional, Figueroa, Jonine D., additional, Fraumeni, Joseph F., additional, Friedenreich, Christine M., additional, Fuchs, Charles S., additional, Gallinger, Steven, additional, Gao, Yu-Tang, additional, Gapstur, Susan M., additional, Garcia-Closas, Montserrat, additional, Gaudet, Mia M., additional, Gaziano, J. Michael, additional, Giles, Graham G., additional, Gillanders, Elizabeth M., additional, Giovannucci, Edward L., additional, Goldin, Lynn, additional, Goldstein, Alisa M., additional, Haiman, Christopher A., additional, Hallmans, Goran, additional, Hankinson, Susan E., additional, Harris, Curtis C., additional, Henriksson, Roger, additional, Holly, Elizabeth A., additional, Hong, Yun-Chul, additional, Hoover, Robert N., additional, Hsiung, Chao A., additional, Hu, Nan, additional, Hu, Wei, additional, Hunter, David J., additional, Hutchinson, Amy, additional, Jenab, Mazda, additional, Johansen, Christoffer, additional, Khaw, Kay-Tee, additional, Kim, Hee Nam, additional, Kim, Yeul Hong, additional, Kim, Young Tae, additional, Klein, Alison P., additional, Klein, Robert, additional, Koh, Woon-Puay, additional, Kolonel, Laurence N., additional, Kooperberg, Charles, additional, Kraft, Peter, additional, Krogh, Vittorio, additional, Kurtz, Robert C., additional, LaCroix, Andrea, additional, Lan, Qing, additional, Landi, Maria Teresa, additional, Marchand, Loic Le, additional, Li, Donghui, additional, Liang, Xiaolin, additional, Liao, Linda M., additional, Lin, Dongxin, additional, Liu, Jianjun, additional, Lissowska, Jolanta, additional, Lu, Lingeng, additional, Magliocco, Anthony M., additional, Malats, Nuria, additional, Matsuo, Keitaro, additional, McNeill, Lorna H., additional, McWilliams, Robert R., additional, Melin, Beatrice S., additional, Mirabello, Lisa, additional, Moore, Lee, additional, Olson, Sara H., additional, Orlow, Irene, additional, Park, Jae Yong, additional, Patiño-Garcia, Ana, additional, Peplonska, Beata, additional, Peters, Ulrike, additional, Petersen, Gloria M., additional, Pooler, Loreall, additional, Prescott, Jennifer, additional, Prokunina-Olsson, Ludmila, additional, Purdue, Mark P., additional, Qiao, You-Lin, additional, Rajaraman, Preetha, additional, Real, Francisco X., additional, Riboli, Elio, additional, Risch, Harvey A., additional, Rodriguez-Santiago, Benjamin, additional, Ruder, Avima M., additional, Savage, Sharon A., additional, Schumacher, Fredrick, additional, Schwartz, Ann G., additional, Schwartz, Kendra L., additional, Seow, Adeline, additional, Wendy Setiawan, Veronica, additional, Severi, Gianluca, additional, Shen, Hongbing, additional, Sheng, Xin, additional, Shin, Min-Ho, additional, Shu, Xiao-Ou, additional, Silverman, Debra T., additional, Spitz, Margaret R., additional, Stevens, Victoria L., additional, Stolzenberg-Solomon, Rachael, additional, Stram, Daniel, additional, Tang, Ze-Zhong, additional, Taylor, Philip R., additional, Teras, Lauren R., additional, Tobias, Geoffrey S., additional, Van Den Berg, David, additional, Visvanathan, Kala, additional, Wacholder, Sholom, additional, Wang, Jiu-Cun, additional, Wang, Zhaoming, additional, Wentzensen, Nicolas, additional, Wheeler, William, additional, White, Emily, additional, Wiencke, John K., additional, Wolpin, Brian M., additional, Wong, Maria Pik, additional, Wu, Chen, additional, Wu, Tangchun, additional, Wu, Xifeng, additional, Wu, Yi-Long, additional, Wunder, Jay S., additional, Xia, Lucy, additional, Yang, Hannah P., additional, Yang, Pan-Chyr, additional, Yu, Kai, additional, Zanetti, Krista A., additional, Zeleniuch-Jacquotte, Anne, additional, Zheng, Wei, additional, Zhou, Baosen, additional, Ziegler, Regina G., additional, Perez-Jurado, Luis A., additional, Caporaso, Neil E., additional, Rothman, Nathaniel, additional, Tucker, Margaret, additional, Dean, Michael C., additional, Yeager, Meredith, additional, and Chanock, Stephen J., additional

Published
2016
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23. Multiple Myeloma Mortality in Relation to Obesity Among African Americans

Author

Sonderman, Jennifer S., primary, Bethea, Traci N., additional, Kitahara, Cari M., additional, Patel, Alpa V., additional, Harvey, Chinonye, additional, Knutsen, Synnøve F., additional, Park, Yikyung, additional, Park, Song-Yi, additional, Fraser, Gary E., additional, Teras, Lauren R., additional, Purdue, Mark P., additional, Stolzenberg-Solomon, Rachael Z., additional, Gillanders, Elizabeth M., additional, Palmer, Julie R., additional, Kolonel, Laurence N., additional, and Blot, William J., additional

Published
2016
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25. Characterization of Large Structural Genetic Mosaicism in Human Autosomes

Author

Machiela, Mitchell J., Zhou, Weiyin, Sampson, Joshua N., Dean, Michael C., Jacobs, Kevin B., Black, Amanda, Brinton, Louise A., Chang, I-Shou, Chen, Chu, Chen, Constance, Chen, Kexin, Cook, Linda S., Bou, Marta Crous, De Vivo, Immaculata, Doherty, Jennifer, Friedenreich, Christine M., Gaudet, Mia M., Haiman, Christopher A., Hankinson, Susan E., Hartge, Patricia, Henderson, Brian E., Hong, Yun-Chul, Hosgood, H. Dean, III, Hsiung, Chao A., Hu, Wei, Hunter, David J., Jessop, Lea, Kim, Hee Nam, Kim, Yeul Hong, Kim, Young Tae, Klein, Robert, Kraft, Peter, Lan, Qing, Lin, Dongxin, Liu, Jianjun, Le Marchand, Loic, Liang, Xiaolin, Lissowska, Jolanta, Lu, Lingeng, Magliocco, Anthony M., Matsuo, Keitaro, Olson, Sara H., Orlow, Irene, Park, Jae Yong, Pooler, Loreall, Prescott, Jennifer, Rastogi, Radhai, Risch, Harvey A., Schumacher, Fredrick, Seow, Adeline, Setiawan, Veronica Wendy, Shen, Hongbing, Sheng, Xin, Shin, Min-Ho, Shu, Xiao-Ou, VanDen Berg, David, Wang, Jiu-Cun, Wentzensen, Nicolas, Wong, Maria Pik, Wu, Chen, Wu, Tangchun, Wu, Yi-Long, Xia, Lucy, Yang, Hannah P., Yang, Pan-Chyr, Zheng, Wei, Zhou, Baosen, Abnet, Christian C., Albanes, Demetrius, Aldrich, Melinda C., Amos, Christopher, Amundadottir, Laufey T., Berndt, Sonja I., Blot, William J., Bock, Cathryn H., Bracci, Paige M., Burdett, Laurie, Buring, Julie E., Butler, Mary A., Carreon, Tania, Chatterjee, Nilanjan, Chung, Charles C., Cook, Michael B., Cullen, Michael, Davis, Faith G., Ding, Ti, Duell, Eric J., Epstein, Caroline G., Fan, Jin-Hu, Figueroa, Jonine D., Fraumeni, Joseph F., Jr., Freedman, Neal D., Fuchs, Charles S., Gao, Yu-Tang, Gapstur, Susan M., Patino-Garcia, Ana, Garcia-Closas, Montserrat, Gaziano, J. Michael, Giles, Graham G., Gillanders, Elizabeth M., Giovannucci, Edward L., Goldin, Lynn, Goldstein, Alisa M., Greene, Mark H., Hallmans, Göran, Harris, Curtis C., Henriksson, Roger, Holly, Elizabeth A., Hoover, Robert N., Hu, Nan, Hutchinson, Amy, Jenab, Mazda, Johansen, Christoffer, Khaw, Kay-Tee, Koh, Woon-Puay, Kolonel, Laurence N., Kooperberg, Charles, Krogh, Vittorio, Kurtz, Robert C., LaCroix, Andrea, Landgren, Annelie, Landi, Maria Teresa, Li, Donghui, Liao, Linda M., Malats, Nuria, McGlynn, Katherine A., McNeill, Lorna H., McWilliams, Robert R., Melin, Beatrice S., Mirabello, Lisa, Peplonska, Beata, Peters, Ulrike, Petersen, Gloria M., Prokunina-Olsson, Ludmila, Purdue, Mark, Qiao, You-Lin, Rabe, Kari G., Rajaraman, Preetha, Real, Francisco X., Riboli, Elio, Rodriguez-Santiago, Benjamin, Rothman, Nathaniel, Ruder, Avima M., Savage, Sharon A., Schwartz, Ann G., Schwartz, Kendra L., Sesso, Howard D., Severi, Gianluca, Silverman, Debra T., Spitz, Margaret R., Stevens, Victoria L., Stolzenberg-Solomon, Rachael, Stram, Daniel, Tang, Ze-Zhong, Taylor, Philip R., Teras, Lauren R., Tobias, Geoffrey S., Viswanathan, Kala, Wacholder, Sholom, Wang, Zhaoming, Weinstein, Stephanie J., Wheeler, William, White, Emily, Wiencke, John K., Wolpin, Brian M., Wu, Xifeng, Wunder, Jay S., Yu, Kai, Zanetti, Krista A., Zeleniuch-Jacquotte, Anne, Ziegler, Regina G., De Andrade, Mariza, Barnes, Kathleen C., Beaty, Terri H., Bierut, Laura J., Desch, Karl C., Doheny, Kimberly F., Feenstra, Bjarke, Ginsburg, David, Heit, John A., Kang, Jae H., Laurie, Cecilia A., Li, Jun Z., Lowe, William L., Marazita, Mary L., Melbye, Mads, Mirel, Daniel B., Murray, Jeffrey C., Nelson, Sarah C., Pasquale, Louis R., Rice, Kenneth, Wiggs, Janey L., Wise, Anastasia, Tucker, Margaret, Perez-Jurado, Luis A., Laurie, Cathy C., Caporaso, Neil E., Yeager, Meredith, Chanock, Stephen J., Machiela, Mitchell J., Zhou, Weiyin, Sampson, Joshua N., Dean, Michael C., Jacobs, Kevin B., Black, Amanda, Brinton, Louise A., Chang, I-Shou, Chen, Chu, Chen, Constance, Chen, Kexin, Cook, Linda S., Bou, Marta Crous, De Vivo, Immaculata, Doherty, Jennifer, Friedenreich, Christine M., Gaudet, Mia M., Haiman, Christopher A., Hankinson, Susan E., Hartge, Patricia, Henderson, Brian E., Hong, Yun-Chul, Hosgood, H. Dean, III, Hsiung, Chao A., Hu, Wei, Hunter, David J., Jessop, Lea, Kim, Hee Nam, Kim, Yeul Hong, Kim, Young Tae, Klein, Robert, Kraft, Peter, Lan, Qing, Lin, Dongxin, Liu, Jianjun, Le Marchand, Loic, Liang, Xiaolin, Lissowska, Jolanta, Lu, Lingeng, Magliocco, Anthony M., Matsuo, Keitaro, Olson, Sara H., Orlow, Irene, Park, Jae Yong, Pooler, Loreall, Prescott, Jennifer, Rastogi, Radhai, Risch, Harvey A., Schumacher, Fredrick, Seow, Adeline, Setiawan, Veronica Wendy, Shen, Hongbing, Sheng, Xin, Shin, Min-Ho, Shu, Xiao-Ou, VanDen Berg, David, Wang, Jiu-Cun, Wentzensen, Nicolas, Wong, Maria Pik, Wu, Chen, Wu, Tangchun, Wu, Yi-Long, Xia, Lucy, Yang, Hannah P., Yang, Pan-Chyr, Zheng, Wei, Zhou, Baosen, Abnet, Christian C., Albanes, Demetrius, Aldrich, Melinda C., Amos, Christopher, Amundadottir, Laufey T., Berndt, Sonja I., Blot, William J., Bock, Cathryn H., Bracci, Paige M., Burdett, Laurie, Buring, Julie E., Butler, Mary A., Carreon, Tania, Chatterjee, Nilanjan, Chung, Charles C., Cook, Michael B., Cullen, Michael, Davis, Faith G., Ding, Ti, Duell, Eric J., Epstein, Caroline G., Fan, Jin-Hu, Figueroa, Jonine D., Fraumeni, Joseph F., Jr., Freedman, Neal D., Fuchs, Charles S., Gao, Yu-Tang, Gapstur, Susan M., Patino-Garcia, Ana, Garcia-Closas, Montserrat, Gaziano, J. Michael, Giles, Graham G., Gillanders, Elizabeth M., Giovannucci, Edward L., Goldin, Lynn, Goldstein, Alisa M., Greene, Mark H., Hallmans, Göran, Harris, Curtis C., Henriksson, Roger, Holly, Elizabeth A., Hoover, Robert N., Hu, Nan, Hutchinson, Amy, Jenab, Mazda, Johansen, Christoffer, Khaw, Kay-Tee, Koh, Woon-Puay, Kolonel, Laurence N., Kooperberg, Charles, Krogh, Vittorio, Kurtz, Robert C., LaCroix, Andrea, Landgren, Annelie, Landi, Maria Teresa, Li, Donghui, Liao, Linda M., Malats, Nuria, McGlynn, Katherine A., McNeill, Lorna H., McWilliams, Robert R., Melin, Beatrice S., Mirabello, Lisa, Peplonska, Beata, Peters, Ulrike, Petersen, Gloria M., Prokunina-Olsson, Ludmila, Purdue, Mark, Qiao, You-Lin, Rabe, Kari G., Rajaraman, Preetha, Real, Francisco X., Riboli, Elio, Rodriguez-Santiago, Benjamin, Rothman, Nathaniel, Ruder, Avima M., Savage, Sharon A., Schwartz, Ann G., Schwartz, Kendra L., Sesso, Howard D., Severi, Gianluca, Silverman, Debra T., Spitz, Margaret R., Stevens, Victoria L., Stolzenberg-Solomon, Rachael, Stram, Daniel, Tang, Ze-Zhong, Taylor, Philip R., Teras, Lauren R., Tobias, Geoffrey S., Viswanathan, Kala, Wacholder, Sholom, Wang, Zhaoming, Weinstein, Stephanie J., Wheeler, William, White, Emily, Wiencke, John K., Wolpin, Brian M., Wu, Xifeng, Wunder, Jay S., Yu, Kai, Zanetti, Krista A., Zeleniuch-Jacquotte, Anne, Ziegler, Regina G., De Andrade, Mariza, Barnes, Kathleen C., Beaty, Terri H., Bierut, Laura J., Desch, Karl C., Doheny, Kimberly F., Feenstra, Bjarke, Ginsburg, David, Heit, John A., Kang, Jae H., Laurie, Cecilia A., Li, Jun Z., Lowe, William L., Marazita, Mary L., Melbye, Mads, Mirel, Daniel B., Murray, Jeffrey C., Nelson, Sarah C., Pasquale, Louis R., Rice, Kenneth, Wiggs, Janey L., Wise, Anastasia, Tucker, Margaret, Perez-Jurado, Luis A., Laurie, Cathy C., Caporaso, Neil E., Yeager, Meredith, and Chanock, Stephen J.

Abstract

Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals. Merging data from the new TGSII set with data from two prior reports (the Gene-Environment Association Studies and the total GWAS set I) generated a large dataset of 127,179 individuals; we then conducted a meta-analysis to investigate the patterns of detectable autosomal mosaicism (n = 1,315 events in 925 [0.73%] individuals). Restricting to events >2 Mb in size, we observed an increase in event frequency as event size decreased. The combined results underscore that the rate of detectable mosaicism increases with age (p value = 5.5 x 3 10(-31)) and is higher in men (p value = 0.002) but lower in participants of African ancestry (p value = 0.003). In a subset of 47 individuals from whom serial samples were collected up to 6 years apart, complex changes were noted over time and showed an overall increase in the proportion of mosaic cells as age increased. Our large combined sample allowed for a unique ability to characterize detectable genetic mosaicism involving large structural events and strengthens the emerging evidence of non-random erosion of the genome in the aging population.

Published
2015
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26. Robustness of Next Generation Sequencing on Older Formalin-Fixed Paraffin-Embedded Tissue

Author

Carrick, Danielle Mercatante, primary, Mehaffey, Michele G., additional, Sachs, Michael C., additional, Altekruse, Sean, additional, Camalier, Corinne, additional, Chuaqui, Rodrigo, additional, Cozen, Wendy, additional, Das, Biswajit, additional, Hernandez, Brenda Y., additional, Lih, Chih-Jian, additional, Lynch, Charles F., additional, Makhlouf, Hala, additional, McGregor, Paul, additional, McShane, Lisa M., additional, Phillips Rohan, JoyAnn, additional, Walsh, William D., additional, Williams, Paul M., additional, Gillanders, Elizabeth M., additional, Mechanic, Leah E., additional, and Schully, Sheri D., additional

Published
2015
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27. Up For A Challenge (U4C): Stimulating innovation in breast cancer genetic epidemiology.

Author

null, null, Mechanic, Leah E., Dathe, Marina, Gillanders, Elizabeth M., Myers, Chad L., Wang, Wen, Ritchie, Marylyn D., Schildkraut, Joellen, Schumacher, Fredrick, Williams, Scott M., Lindström, Sara, Daily, Kenneth M., Sieberts, Solveig K., Amos, Christopher I., Chen, Huann-Sheng, Feuer, Eric J., Cox, Nancy J., Guertin, Michael J., Liu, Yunxian, and Hoffman, Joshua

Subjects
GENETICS of breast cancer, CANCER risk factors
Abstract

The article focuses on the initiative "Up For A Challenge (U4C)—Stimulating Innovation in Breast Cancer Genetic Epidemiology" by the American organization National Cancer Institute (NCI). Topics discussed include understanding the role of disease risk through genome-wide association studies (GWAS) of the genetic variants of breast cancer, review by National Institutes of Health (NIH) of entries, and chart on U4C entries received.

Published
2017
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29. Genetic Simulation Tools for Post‐Genome Wide Association Studies of Complex Diseases

Author

Chen, Huann‐Sheng, primary, Hutter, Carolyn M., additional, Mechanic, Leah E., additional, Amos, Christopher I., additional, Bafna, Vineet, additional, Hauser, Elizabeth R., additional, Hernandez, Ryan D., additional, Li, Chun, additional, Liberles, David A., additional, McAllister, Kimberly, additional, Moore, Jason H., additional, Paltoo, Dina N., additional, Papanicolaou, George J., additional, Peng, Bo, additional, Ritchie, Marylyn D., additional, Rosenfeld, Gabriel, additional, Witte, John S., additional, Gillanders, Elizabeth M., additional, and Feuer, Eric J., additional

Published
2014
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30. Up For A Challenge (U4C): Stimulating innovation in breast cancer genetic epidemiology.

Author

Mechanic LE, Lindström S, Daily KM, Sieberts SK, Amos CI, Chen HS, Cox NJ, Dathe M, Feuer EJ, Guertin MJ, Hoffman J, Liu Y, Moore JH, Myers CL, Ritchie MD, Schildkraut J, Schumacher F, Witte JS, Wang W, Williams SM, and Gillanders EM

Subjects
Breast Neoplasms epidemiology, Female, Genome-Wide Association Study statistics & numerical data, Genome-Wide Association Study trends, Humans, Inventions, Research Report, Breast Neoplasms genetics, Genome-Wide Association Study methods
Published
2017
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