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3. 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

5. Gliomas and Farm Pesticide Exposure in Women: The Upper Midwest Health Study

Author

Carreón, Tania, Butler, Mary Ann, Ruder, Avima M., Waters, Martha A., Davis-King, Karen E., Calvert, Geoffrey M., Schulte, Paul A., Connally, Barbara, Ward, Elizabeth M., Sanderson, Wayne T., Heineman, Ellen F., Mandel, Jack S., Morton, Roscoe F., Reding, Douglas J., Rosenman, Kenneth D., and Talaska, Glenn

Published
2005

6. Research Recommendations for Selected IARC-Classified Agents

Author

Ward, Elizabeth M, Schulte, Paul A, Straif, Kurt, Hopf, Nancy B, Caldwell, Jane C, Carreón, Tania, DeMarini, David M, Fowler, Bruce A, Goldstein, Bernard D, Hemminki, Kari, Hines, Cynthia J, Pursiainen, Kirsti Husgafvel, Kuempel, Eileen, Lewtas, Joellen, Lunn, Ruth M, Lynge, Elsebeth, McElvenny, Damien M, Muhle, Hartwig, Nakajima, Tamie, Robertson, Larry W, Rothman, Nathaniel, Ruder, Avima M, Schubauer-Berigan, Mary K, Siemiatycki, Jack, Silverman, Debra, Smith, Martyn T, Sorahan, Tom, Steenland, Kyle, Stevens, Richard G, Vineis, Paolo, Zahm, Shelia Hoar, Zeise, Lauren, and Cogliano, Vincent J

Subjects
Biomedical and Clinical Sciences, Environmental Sciences, Oncology and Carcinogenesis, Prevention, Cancer, Animals, Carcinogenicity Tests, Evidence-Based Medicine, Humans, animal, carcinogen, carcinogenesis, epidemiology, human, IARC, mechanisms of carcinogenicity, occupational, Medical and Health Sciences, Toxicology, Biomedical and clinical sciences, Environmental sciences, Health sciences
Abstract

ObjectivesThere are some common occupational agents and exposure circumstances for which evidence of carcinogenicity is substantial but not yet conclusive for humans. Our objectives were to identify research gaps and needs for 20 agents prioritized for review based on evidence of widespread human exposures and potential carcinogenicity in animals or humans.Data sourcesFor each chemical agent (or category of agents), a systematic review was conducted of new data published since the most recent pertinent International Agency for Research on Cancer (IARC) Monograph meeting on that agent.Data extractionReviewers were charged with identifying data gaps and general and specific approaches to address them, focusing on research that would be important in resolving classification uncertainties. An expert meeting brought reviewers together to discuss each agent and the identified data gaps and approaches.Data synthesisSeveral overarching issues were identified that pertained to multiple agents; these included the importance of recognizing that carcinogenic agents can act through multiple toxicity pathways and mechanisms, including epigenetic mechanisms, oxidative stress, and immuno- and hormonal modulation.ConclusionsStudies in occupational populations provide important opportunities to understand the mechanisms through which exogenous agents cause cancer and intervene to prevent human exposure and/or prevent or detect cancer among those already exposed. Scientific developments are likely to increase the challenges and complexities of carcinogen testing and evaluation in the future, and epidemiologic studies will be particularly critical to inform carcinogen classification and risk assessment processes.

Published
2010

7. Health consequences of electric lighting practices in the modern world: A report on the National Toxicology Program's workshop on shift work at night, artificial light at night, and circadian disruption

Author

Lunn, Ruth M., Blask, David E., Coogan, Andrew N., Figueiro, Mariana G., Gorman, Michael R., Hall, Janet E., Hansen, Johnni, Nelson, Randy J., Panda, Satchidananda, Smolensky, Michael H., Stevens, Richard G., Turek, Fred W., Vermeulen, Roel, Carreón, Tania, Caruso, Claire C., Lawson, Christina C., Thayer, Kristina A., Twery, Michael J., Ewens, Andrew D., Garner, Sanford C., Schwingl, Pamela J., and Boyd, Windy A.

Published
2017
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8. Assessing the role of social determinants of health in health disparities: The need for data on work.

Author

Silver, Sharon R., Sweeney, Marie H., Sanderson, Wayne T., Pana‐Cryan, Regina, Steege, Andrea L., Quay, Brian, Carreón, Tania, and Flynn, Michael A.

Abstract

Background: Work is a key social determinant of health. Without the collection of work‐related information in public health data systems, the role of social determinants in creating and reinforcing health disparities cannot be fully assessed. Methods: The Centers for Disease Control and Prevention (CDC) maintains or supports a number of public health surveillance and health monitoring systems, including surveys, case‐based disease and exposure systems, vital status records, and administrative data systems. We evaluated a convenience sample of these systems for inclusion of information in three work‐related domains: employment status, industry and occupation, and working conditions. Results: While 12 of 39 data systems were identified as collecting work‐related data, this information was often minimal (e.g., only employment status), restricted to a subset of respondents, or only gathered periodically. Information on working conditions was particularly sparse. Conclusion: Historically, the limited and inconsistent collection of work‐related information in public health data systems has hindered understanding of the role work plays in health disparities. Current CDC data modernization efforts present opportunities to enhance the identification and mitigation of health disparities by prioritizing inclusion of an expanded set of work‐related data elements. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Further Confirmation of Germline Glioma Risk Variant rs78378222 in TP53 and Its Implication in Tumor Tissues via Integrative Analysis of TCGA Data

Author

Wang, Zhaoming, Rajaraman, Preetha, Melin, Beatrice S., Chung, Charles C., Zhang, Weijia, McKean-Cowdin, Roberta, Michaud, Dominique, Yeager, Meredith, Ahlbom, Anders, Albanes, Demetrius, Andersson, Ulrika, Freeman, Laura Beane E., Buring, Julie E., Butler, Mary Ann, Carreón, Tania, Feychting, Maria, Gapstur, Susan M., Gaziano, Michael J., Giles, Graham G., Hallmans, Goran, Henriksson, Roger, Hoffman-Bolton, Judith, Inskip, Peter D., Kitahara, Cari M., Le Marchand, Loic, Linet, Martha S., Li, Shengchao, Peters, Ulrike, Purdue, Mark P., Rothman, Nathaniel, Ruder, Avima M., Sesso, Howard D., Severi, Gianluca, Stampfer, Meir, Stevens, Victoria L., Visvanathan, Kala, Wang, Sophia S., White, Emily, Zeleniuch-Jacquotte, Anne, Hoover, Robert, Fraumeni, Joseph F., Chatterjee, Nilanjan, Hartge, Patricia, and Chanock, Stephen J.

Published
2015
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18. sj-pdf-1-inq-10.1177_00469580211035735 – Supplemental Material for Expanding Reach of Occupational Health Knowledge: Contributing Subject-Matter Expertise to Wikipedia as a Class Assignment

Author

Ceballos, Diana M., Herrick, Robert F., Carreón, Tania, Nguyen, Vy T., Chu, MyDzung T., Sadowski, John P., Blumenthal, Helaine, and Morata, Thais C.

Subjects
111099 Nursing not elsewhere classified, FOS: Health sciences
Abstract

Supplemental Material, sj-pdf-1-inq-10.1177_00469580211035735 for Expanding Reach of Occupational Health Knowledge: Contributing Subject-Matter Expertise to Wikipedia as a Class Assignment by Diana M. Ceballos, Robert F. Herrick, Tania Carreón, Vy T. Nguyen, MyDzung T. Chu, John P. Sadowski, Helaine Blumenthal and Thais C. Morata in INQUIRY: The Journal of Health Care Organization, Provision, and Financing

Published
2021
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21. Known glioma risk loci are associated with glioma with a family history of brain tumours—A case–control gene association study

Author

Melin, Beatrice, Dahlin, Anna M., Andersson, Ulrika, Wang, Zhaoming, Henriksson, Roger, Hallmans, Göran, Bondy, Melissa L., Johansen, Christoffer, Feychting, Maria, Ahlbom, Anders, Kitahara, Cari M., Wang, Sophia S., Ruder, Avima M., Carreón, Tania, Butler, Mary Ann, Inskip, Peter D., Purdue, Mark, Hsing, Ann W., Mechanic, Leah, Gillanders, Elizabeth, Yeager, Meredith, Linet, Martha, Chanock, Stephen J., Hartge, Patricia, and Rajaraman, Preetha

Published
2013
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24. Association between adult height, genetic susceptibility and risk of glioma

Author

Kitahara, Cari M, Wang, Sophia S, Melin, Beatrice S, Wang, Zhaoming, Braganza, Melissa, Inskip, Peter D, Albanes, Demetrius, Andersson, Ulrika, Beane Freeman, Laura E, Buring, Julie E, Carreón, Tania, Feychting, Maria, Gapstur, Susan M, Gaziano, J Michael, Giles, Graham G, Hallmans, Goran, Hankinson, Susan E, Henriksson, Roger, Hsing, Ann W, Johansen, Christoffer, Linet, Martha S, McKean-Cowdin, Roberta, Michaud, Dominique S, Peters, Ulrike, Purdue, Mark P, Rothman, Nathaniel, Ruder, Avima M, Sesso, Howard D, Severi, Gianluca, Shu, Xiao-Ou, Stevens, Victoria L, Visvanathan, Kala, Waters, Martha A, White, Emily, Wolk, Alicja, Zeleniuch-Jacquotte, Anne, Zheng, Wei, Hoover, Robert, Fraumeni, Joseph F, Jr, Chatterjee, Nilanjan, Yeager, Meredith, Chanock, Stephen J, Hartge, Patricia, and Rajaraman, Preetha

Published
2012
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25. A Workshop on Cognitive Aging and Impairment in the 9/11-Exposed Population

Author

Daniels, Robert D., primary, Clouston, Sean A. P., additional, Hall, Charles B., additional, Anderson, Kristi R., additional, Bennett, David A., additional, Bromet, Evelyn J., additional, Calvert, Geoffrey M., additional, Carreón, Tania, additional, DeKosky, Steven T., additional, Diminich, Erica D., additional, Finch, Caleb E., additional, Gandy, Sam, additional, Kreisl, William C., additional, Kritikos, Minos, additional, Kubale, Travis L., additional, Mielke, Michelle M., additional, Peskind, Elaine R., additional, Raskind, Murray A., additional, Richards, Marcus, additional, Sano, Mary, additional, Santiago-Colón, Albeliz, additional, Sloan, Richard P., additional, Spiro, Avron, additional, Vasdev, Neil, additional, Luft, Benjamin J., additional, and Reissman, Dori B., additional

Published
2021
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27. World Trade Center Health Program: First Decade of Research

Author

Santiago-Colón, Albeliz, primary, Daniels, Robert, additional, Reissman, Dori, additional, Anderson, Kristi, additional, Calvert, Geoffrey, additional, Caplan, Alexis, additional, Carreón, Tania, additional, Katruska, Alan, additional, Kubale, Travis, additional, Liu, Ruiling, additional, Nembhard, Rhonda, additional, Robison, W. Allen, additional, Yiin, James, additional, and Howard, John, additional

Published
2020
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28. Challenges and recommendations on the conduct of systematic reviews of observational epidemiologic studies in environmental and occupational health

Author

Arroyave, Whitney D., primary, Mehta, Suril S., additional, Guha, Neela, additional, Schwingl, Pam, additional, Taylor, Kyla W., additional, Glenn, Barbara, additional, Radke, Elizabeth G., additional, Vilahur, Nadia, additional, Carreón, Tania, additional, Nachman, Rebecca M., additional, and Lunn, Ruth M., additional

Published
2020
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31. Gliomas and Farm Pesticide Exposure in Men: The Upper Midwest Health Study

Author

RUDER, AVIMA M., WATERS, MARTHA A., BUTLER, MARY ANN, CARREÓN, TANIA, CALVERT, GEOFFREY M., DAVIS-KING, KAREN E., SCHULTE, PAUL A., SANDERSON, WAYNE T., WARD, ELIZABETH M., CONNALLY, L. BARBARA, HEINEMAN, ELLEN F., MANDEL, JACK S., MORTON, ROSCOE F., REDING, DOUGLAS J., ROSENMAN, KENNETH D., and TALASKA, GLENN

Published
2004

32. The upper midwest health study: a case–control study of pesticide applicators and risk of glioma

Author

Yiin James H, Ruder Avima M, Stewart Patricia A, Waters Martha A, Carreón Tania, Butler Mary, Calvert Geoffrey M, Davis-King Karen E, Schulte Paul A, Mandel Jack S, Morton Roscoe F, Reding Douglas J, and Rosenman Kenneth D

Subjects
Pesticides, Glioma, Brain cancer, Upper Midwest, Case–control, Farmers, Applicators, Gardens, Industrial medicine. Industrial hygiene, RC963-969, Public aspects of medicine, RA1-1270
Abstract

Abstract Background An excess incidence of brain cancer in farmers has been noted in several studies. The National Institute for Occupational Safety and Health developed the Upper Midwest Health Study (UMHS) as a case–control study of intracranial gliomas and pesticide uses among rural residents. Previous studies of UMHS participants, using “ever-never” exposure to farm pesticides and analyzing men and women separately, found no positive association of farm pesticide exposure and glioma risks. The primary objective was to determine if quantitatively estimated exposure of pesticide applicators was associated with an increased risk of glioma in male and female participants. Methods The study included 798 histologically confirmed primary intracranial glioma cases (45 % with proxy respondents) and 1,175 population-based controls, all adult (age 18–80) non-metropolitan residents of Iowa, Michigan, Minnesota, and Wisconsin. The analyses used quantitatively estimated exposure from questionnaire responses evaluated by an experienced industrial hygienist with 25 years of work on farm pesticide analyses. Odds ratios (ORs) and 95 % confidence intervals (CIs) using unconditional logistic regression modeling were calculated adjusting for frequency-matching variables (10-year age group and sex), and for age and education (a surrogate for socioeconomic status). Analyses were separately conducted with or without proxy respondents. Results No significant positive associations with glioma were observed with cumulative years or estimated lifetime cumulative exposure of farm pesticide use. There was, a significant inverse association for phenoxy pesticide used on the farm (OR 0.96 per 10 g-years of cumulative exposure, CI 0.93-0.99). No significant findings were observed when proxy respondents were excluded. Non-farm occupational applicators of any pesticide had decreased glioma risk: OR 0.72, CI 0.52-0.99. Similarly, house and garden pesticide applicators had a decreased risk of glioma: OR 0.79, CI 0.66-0.93, with statistically significant inverse associations for use of 2,4-D, arsenates, organophosphates, and phenoxys. Conclusions These results are consistent with our previous findings for UMHS of reported farm pesticide exposure and support a lack of positive association between pesticides and glioma.

Published
2012
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33. Health consequences of electric lighting practices in the modern world: A report on the National Toxicology Program's workshop on shift work at night, artificial light at night, and circadian disruption

Author

Lunn, Ruth M, Blask, David E, Coogan, Andrew N, Figueiro, Mariana G, Gorman, Michael R, Hall, Janet E, Hansen, Johnni, Nelson, Randy J, Panda, Satchidananda, Smolensky, Michael H, Stevens, Richard G, Turek, Fred W, Vermeulen, Roel, Carreón, Tania, Caruso, Claire C, Lawson, Christina C, Thayer, Kristina A, Twery, Michael J, Ewens, Andrew D, Garner, Sanford C, Schwingl, Pamela J, Boyd, Windy A, Lunn, Ruth M, Blask, David E, Coogan, Andrew N, Figueiro, Mariana G, Gorman, Michael R, Hall, Janet E, Hansen, Johnni, Nelson, Randy J, Panda, Satchidananda, Smolensky, Michael H, Stevens, Richard G, Turek, Fred W, Vermeulen, Roel, Carreón, Tania, Caruso, Claire C, Lawson, Christina C, Thayer, Kristina A, Twery, Michael J, Ewens, Andrew D, Garner, Sanford C, Schwingl, Pamela J, and Boyd, Windy A

Abstract

The invention of electric light has facilitated a society in which people work, sleep, eat, and play at all hours of the 24-hour day. Although electric light clearly has benefited humankind, exposures to electric light, especially light at night (LAN), may disrupt sleep and biological processes controlled by endogenous circadian clocks, potentially resulting in adverse health outcomes. Many of the studies evaluating adverse health effects have been conducted among night- and rotating-shift workers, because this scenario gives rise to significant exposure to LAN. Because of the complexity of this topic, the National Toxicology Program convened an expert panel at a public workshop entitled "Shift Work at Night, Artificial Light at Night, and Circadian Disruption" to obtain input on conducting literature-based health hazard assessments and to identify data gaps and research needs. The Panel suggested describing light both as a direct effector of endogenous circadian clocks and rhythms and as an enabler of additional activities or behaviors that may lead to circadian disruption, such as night-shift work and atypical and inconsistent sleep-wake patterns that can lead to social jet lag. Future studies should more comprehensively characterize and measure the relevant light-related exposures and link these exposures to both time-independent biomarkers of circadian disruption and biomarkers of adverse health outcomes. This information should lead to improvements in human epidemiological and animal or in vitro models, more rigorous health hazard assessments, and intervention strategies to minimize the occurrence of adverse health outcomes due to these exposures.

Published
2017

34. Health consequences of electric lighting practices in the modern world: A report on the National Toxicology Program's workshop on shift work at night, artificial light at night, and circadian disruption

Author

LS IRAS EEPI ME (Milieu epidemiologie), dIRAS RA-2, Lunn, Ruth M, Blask, David E, Coogan, Andrew N, Figueiro, Mariana G, Gorman, Michael R, Hall, Janet E, Hansen, Johnni, Nelson, Randy J, Panda, Satchidananda, Smolensky, Michael H, Stevens, Richard G, Turek, Fred W, Vermeulen, Roel, Carreón, Tania, Caruso, Claire C, Lawson, Christina C, Thayer, Kristina A, Twery, Michael J, Ewens, Andrew D, Garner, Sanford C, Schwingl, Pamela J, Boyd, Windy A, LS IRAS EEPI ME (Milieu epidemiologie), dIRAS RA-2, Lunn, Ruth M, Blask, David E, Coogan, Andrew N, Figueiro, Mariana G, Gorman, Michael R, Hall, Janet E, Hansen, Johnni, Nelson, Randy J, Panda, Satchidananda, Smolensky, Michael H, Stevens, Richard G, Turek, Fred W, Vermeulen, Roel, Carreón, Tania, Caruso, Claire C, Lawson, Christina C, Thayer, Kristina A, Twery, Michael J, Ewens, Andrew D, Garner, Sanford C, Schwingl, Pamela J, and Boyd, Windy A

Published
2017

35. 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, Carreón, Tania, Chaffee, Kari G, Chang, I-Shou, Chatterjee, Nilanjan, Chen, Chu, Chen, Constance, Chen, Kexin, Chung, Charles C, Cook, Linda S, Crous Bou, Marta, 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, Göran, 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, Marchand, Loic Le, Li, Donghui, Liang, Xiaolin, Liao, Linda M, Lin, Dongxin, Liu, Jianjun, Lissowska, Jolanta, Lu, Lingeng, Magliocco, Anthony M, Malats, Nuria, Matsuo, Keitaro, McNeill, Lorna H, McWilliams, Robert R, Melin, Beatrice S, Mirabello, Lisa, Moore, Lee, Olson, Sara H, Orlow, Irene, Park, Jae Yong, Patiño-Garcia, Ana, Peplonska, Beata, Peters, Ulrike, Petersen, Gloria M, Pooler, Loreall, Prescott, Jennifer, Prokunina-Olsson, Ludmila, Purdue, Mark P, Qiao, You-Lin, Rajaraman, Preetha, Real, Francisco X, Riboli, Elio, Risch, Harvey A, Rodriguez-Santiago, Benjamin, Ruder, Avima M, Savage, Sharon A, Schumacher, Fredrick, Schwartz, Ann G, Schwartz, Kendra L, Seow, Adeline, Wendy Setiawan, Veronica, Severi, Gianluca, Shen, Hongbing, Sheng, Xin, Shin, Min-Ho, Shu, Xiao-Ou, 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, Van Den Berg, David, Visvanathan, Kala, Wacholder, Sholom, Wang, Jiu-Cun, Wang, Zhaoming, Wentzensen, Nicolas, Wheeler, William, White, Emily, Wiencke, John K, Wolpin, Brian M, Wong, Maria Pik, Wu, Chen, Wu, Tangchun, Wu, Xifeng, Wu, Yi-Long, Wunder, Jay S, Xia, Lucy, Yang, Hannah P, Yang, Pan-Chyr, Yu, Kai, Zanetti, Krista A, Zeleniuch-Jacquotte, Anne, Zheng, Wei, Zhou, Baosen, Ziegler, Regina G, Perez-Jurado, Luis A, Caporaso, Neil E, Rothman, Nathaniel, Tucker, Margaret, Dean, Michael C, Yeager, Meredith, Chanock, Stephen J, 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, Carreón, Tania, Chaffee, Kari G, Chang, I-Shou, Chatterjee, Nilanjan, Chen, Chu, Chen, Constance, Chen, Kexin, Chung, Charles C, Cook, Linda S, Crous Bou, Marta, 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, Göran, 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, Marchand, Loic Le, Li, Donghui, Liang, Xiaolin, Liao, Linda M, Lin, Dongxin, Liu, Jianjun, Lissowska, Jolanta, Lu, Lingeng, Magliocco, Anthony M, Malats, Nuria, Matsuo, Keitaro, McNeill, Lorna H, McWilliams, Robert R, Melin, Beatrice S, Mirabello, Lisa, Moore, Lee, Olson, Sara H, Orlow, Irene, Park, Jae Yong, Patiño-Garcia, Ana, Peplonska, Beata, Peters, Ulrike, Petersen, Gloria M, Pooler, Loreall, Prescott, Jennifer, Prokunina-Olsson, Ludmila, Purdue, Mark P, Qiao, You-Lin, Rajaraman, Preetha, Real, Francisco X, Riboli, Elio, Risch, Harvey A, Rodriguez-Santiago, Benjamin, Ruder, Avima M, Savage, Sharon A, Schumacher, Fredrick, Schwartz, Ann G, Schwartz, Kendra L, Seow, Adeline, Wendy Setiawan, Veronica, Severi, Gianluca, Shen, Hongbing, Sheng, Xin, Shin, Min-Ho, Shu, Xiao-Ou, 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, Van Den Berg, David, Visvanathan, Kala, Wacholder, Sholom, Wang, Jiu-Cun, Wang, Zhaoming, Wentzensen, Nicolas, Wheeler, William, White, Emily, Wiencke, John K, Wolpin, Brian M, Wong, Maria Pik, Wu, Chen, Wu, Tangchun, Wu, Xifeng, Wu, Yi-Long, Wunder, Jay S, Xia, Lucy, Yang, Hannah P, Yang, Pan-Chyr, Yu, Kai, Zanetti, Krista A, Zeleniuch-Jacquotte, Anne, Zheng, Wei, Zhou, Baosen, Ziegler, Regina G, Perez-Jurado, Luis A, Caporaso, Neil E, Rothman, Nathaniel, Tucker, Margaret, Dean, Michael C, Yeager, Meredith, and Chanock, Stephen J

Abstract

To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events >2 Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases.

Published
2016
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38. 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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40. Further Confirmation of Germline Glioma Risk Variant rs78378222 inTP53and Its Implication in Tumor Tissues via Integrative Analysis of TCGA Data

Author

Wang, Zhaoming, primary, Rajaraman, Preetha, additional, Melin, Beatrice S., additional, Chung, Charles C., additional, Zhang, Weijia, additional, McKean-Cowdin, Roberta, additional, Michaud, Dominique, additional, Yeager, Meredith, additional, Ahlbom, Anders, additional, Albanes, Demetrius, additional, Andersson, Ulrika, additional, Freeman, Laura E. Beane, additional, Buring, Julie E., additional, Butler, Mary Ann, additional, Carreón, Tania, additional, Feychting, Maria, additional, Gapstur, Susan M., additional, Gaziano, J. Michael, additional, Giles, Graham G., additional, Hallmans, Goran, additional, Henriksson, Roger, additional, Hoffman-Bolton, Judith, additional, Inskip, Peter D., additional, Kitahara, Cari M., additional, Marchand, Loic Le, additional, Linet, Martha S., additional, Li, Shengchao, additional, Peters, Ulrike, additional, Purdue, Mark P., additional, Rothman, Nathaniel, additional, Ruder, Avima M., additional, Sesso, Howard D., additional, Severi, Gianluca, additional, Stampfer, Meir, additional, Stevens, Victoria L., additional, Visvanathan, Kala, additional, Wang, Sophia S., additional, White, Emily, additional, Zeleniuch-Jacquotte, Anne, additional, Hoover, Robert, additional, Fraumeni, Joseph F., additional, Chatterjee, Nilanjan, additional, Hartge, Patricia, additional, and Chanock, Stephen J., additional

Published
2015
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43. Known glioma risk loci are associated with glioma with a family history of brain tumours:a case-control gene association study

Author

Melin, Beatrice, Dahlin, Anna M, Andersson, Ulrika, Wang, Zhaoming, Henriksson, Roger, Hallmans, Göran, Bondy, Melissa L, Johansen, Christoffer, Feychting, Maria, Ahlbom, Anders, Kitahara, Cari M, Wang, Sophia S, Ruder, Avima M, Carreón, Tania, Butler, Mary Ann, Inskip, Peter D, Purdue, Mark, Hsing, Ann W, Mechanic, Leah, Gillanders, Elizabeth, Yeager, Meredith, Linet, Martha, Chanock, Stephen J, Hartge, Patricia, Rajaraman, Preetha, Melin, Beatrice, Dahlin, Anna M, Andersson, Ulrika, Wang, Zhaoming, Henriksson, Roger, Hallmans, Göran, Bondy, Melissa L, Johansen, Christoffer, Feychting, Maria, Ahlbom, Anders, Kitahara, Cari M, Wang, Sophia S, Ruder, Avima M, Carreón, Tania, Butler, Mary Ann, Inskip, Peter D, Purdue, Mark, Hsing, Ann W, Mechanic, Leah, Gillanders, Elizabeth, Yeager, Meredith, Linet, Martha, Chanock, Stephen J, Hartge, Patricia, and Rajaraman, Preetha

Published
2013

44. Personal History of Diabetes, Genetic Susceptibility to Diabetes, and Risk of Brain Glioma: A Pooled Analysis of Observational Studies

Author

Kitahara, Cari M., primary, Linet, Martha S., additional, Brenner, Alina V., additional, Wang, Sophia S., additional, Melin, Beatrice S., additional, Wang, Zhaoming, additional, Inskip, Peter D., additional, Freeman, Laura E. Beane, additional, Braganza, Melissa Z., additional, Carreón, Tania, additional, Feychting, Maria, additional, Gaziano, J. Michael, additional, Peters, Ulrike, additional, Purdue, Mark P., additional, Ruder, Avima M., additional, Sesso, Howard D., additional, Shu, Xiao-Ou, additional, Waters, Martha A., additional, White, Emily, additional, Zheng, Wei, additional, Hoover, Robert N., additional, Fraumeni, Joseph F., additional, Chatterjee, Nilanjan, additional, Yeager, Meredith, additional, Chanock, Stephen J., additional, Hartge, Patricia, additional, and Rajaraman, Preetha, additional

Published
2014
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46. Known glioma risk loci are associated with glioma with a family history of brain tumours-A case-control gene association study

Author

Melin, Beatrice, primary, Dahlin, Anna M., additional, Andersson, Ulrika, additional, Wang, Zhaoming, additional, Henriksson, Roger, additional, Hallmans, Göran, additional, Bondy, Melissa L., additional, Johansen, Christoffer, additional, Feychting, Maria, additional, Ahlbom, Anders, additional, Kitahara, Cari M., additional, Wang, Sophia S., additional, Ruder, Avima M., additional, Carreón, Tania, additional, Butler, Mary Ann, additional, Inskip, Peter D., additional, Purdue, Mark, additional, Hsing, Ann W., additional, Mechanic, Leah, additional, Gillanders, Elizabeth, additional, Yeager, Meredith, additional, Linet, Martha, additional, Chanock, Stephen J., additional, Hartge, Patricia, additional, and Rajaraman, Preetha, additional

Published
2012
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47. The Upper Midwest Health Study: gliomas and occupational exposure to chlorinated solvents

Author

Ruder, Avima M, primary, Yiin, James H, additional, Waters, Martha A, additional, Carreón, Tania, additional, Hein, Misty J, additional, Butler, Mary A, additional, Calvert, Geoffrey M, additional, Davis-King, Karen E, additional, Schulte, Paul A, additional, Mandel, Jack S, additional, Morton, Roscoe F, additional, Reding, Douglas J, additional, Rosenman, Kenneth D, additional, and Stewart, Patricia A, additional

Published
2012
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48. E-031

Author

Carreón, Tania, primary, Hein, Misty, additional, Hanley, Kevin, additional, Viet, Susan, additional, and Ruder, Avima, additional

Published
2012
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