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818 results on '"Goldin, Lynn"'

1. Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma

Author

Flerlage, Jamie E., Myers, Jason R., Maciaszek, Jamie L., Oak, Ninad, Rashkin, Sara R., Hui, Yawei, Wang, Yong-Dong, Chen, Wenan, Wu, Gang, Chang, Ti-Cheng, Hamilton, Kayla, Tithi, Saima S., Goldin, Lynn R., Rotunno, Melissa, Caporaso, Neil, Vogt, Aurélie, Flamish, Deborah, Wyatt, Kathleen, Liu, Jia, Tucker, Margaret, Hahn, Christopher N., Brown, Anna L., Scott, Hamish S., Mullighan, Charles, Nichols, Kim E., Metzger, Monika L., McMaster, Mary L., Yang, Jun J., and Rampersaud, Evadnie

Published
2023
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2. Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family

Author

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

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

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

Published
2016

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. Association of polygenic risk score with the risk of chronic lymphocytic leukemia and monoclonal B-cell lymphocytosis

Author

Kleinstern, Geffen, Camp, Nicola J., Goldin, Lynn R., Vachon, Celine M., Vajdic, Claire M., de Sanjose, Silvia, Weinberg, J. Brice, Benavente, Yolanda, Casabonne, Delphine, Liebow, Mark, Nieters, Alexandra, Hjalgrim, Henrik, Melbye, Mads, Glimelius, Bengt, Adami, Hans-Olov, Boffetta, Paolo, Brennan, Paul, Maynadie, Marc, McKay, James, Cocco, Pier Luigi, Shanafelt, Tait D., Call, Timothy G., Norman, Aaron D., Hanson, Curtis, Robinson, Dennis, Chaffee, Kari G., Brooks-Wilson, Angela R., Monnereau, Alain, Clavel, Jacqueline, Glenn, Martha, Curtin, Karen, Conde, Lucia, Bracci, Paige M., Morton, Lindsay M., Cozen, Wendy, Severson, Richard K., Chanock, Stephen J., Spinelli, John J., Johnston, James B., Rothman, Nathaniel, Skibola, Christine F., Leis, Jose F., Kay, Neil E., Smedby, Karin E., Berndt, Sonja I., Cerhan, James R., Caporaso, Neil, and Slager, Susan L.

Published
2018
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5. Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

Author

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

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

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

Published
2013

6. Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32

Author

Conde, Lucia, Halperin, Eran, Akers, Nicholas K, Brown, Kevin M, Smedby, Karin E, Rothman, Nathaniel, Nieters, Alexandra, Slager, Susan L, Brooks-Wilson, Angela, Agana, Luz, Riby, Jacques, Liu, Jianjun, Adami, Hans-Olov, Darabi, Hatef, Hjalgrim, Henrik, Low, Hui-Qi, Humphreys, Keith, Melbye, Mads, Chang, Ellen T, Glimelius, Bengt, Cozen, Wendy, Davis, Scott, Hartge, Patricia, Morton, Lindsay M, Schenk, Maryjean, Wang, Sophia S, Armstrong, Bruce, Kricker, Anne, Milliken, Sam, Purdue, Mark P, Vajdic, Claire M, Boyle, Peter, Lan, Qing, Zahm, Shelia H, Zhang, Yawei, Zheng, Tongzhang, Becker, Nikolaus, Benavente, Yolanda, Boffetta, Paolo, Brennan, Paul, Butterbach, Katja, Cocco, Pierluigi, Foretova, Lenka, Maynadié, Marc, de Sanjosé, Silvia, Staines, Anthony, Spinelli, John J, Achenbach, Sara J, Call, Timothy G, Camp, Nicola J, Glenn, Martha, Caporaso, Neil E, Cerhan, James R, Cunningham, Julie M, Goldin, Lynn R, Hanson, Curtis A, Kay, Neil E, Lanasa, Mark C, Leis, Jose F, Marti, Gerald E, Rabe, Kari G, Rassenti, Laura Z, Spector, Logan G, Strom, Sara S, Vachon, Celine M, Weinberg, J Brice, Holly, Elizabeth A, Chanock, Stephen, Smith, Martyn T, Bracci, Paige M, and Skibola, Christine F

Subjects
Lymphoma, Prevention, Cancer, Human Genome, Genetics, Rare Diseases, Hematology, Aetiology, 2.1 Biological and endogenous factors, Disease Susceptibility, Genetic Variation, Genome-Wide Association Study, Humans, Leukemia, Lymphocytic, Chronic, B-Cell, Lymphoma, Follicular, Lymphoma, Non-Hodgkin, Major Histocompatibility Complex, Risk Factors, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

To identify susceptibility loci for non-Hodgkin lymphoma subtypes, we conducted a three-stage genome-wide association study. We identified two variants associated with follicular lymphoma at 6p21.32 (rs10484561, combined P = 1.12 x 10(-29) and rs7755224, combined P = 2.00 x 10(-19); r(2) = 1.0), supporting the idea that major histocompatibility complex genetic variation influences follicular lymphoma susceptibility. We also found confirmatory evidence of a previously reported association between chronic lymphocytic leukemia/small lymphocytic lymphoma and rs735665 (combined P = 4.24 x 10(-9)).

Published
2010

8. A High-Density Genome Scan Detects Evidence for a Bipolar-Disorder Susceptibility Locus on 13q32 and Other Potential Loci on 1q32 and 18p11.2

Author

Detera-Wadleigh, Sevilla D., Badner, Judith A., Berrettini, Wade H., Yoshikawa, Takeo, Goldin, Lynn R., Turner, Gordon, Rollins, Denise Y., Moses, Tracy, Sanders, Alan R., Karkera, Jayaprakash D., Esterling, Lisa E., Zeng, Jin, Ferraro, Thomas N., Guroff, Juliet J., Kazuba, Diane, Maxwell, Mary E., Nurnberger, John I., and Gershon, Elliot S.

Published
1999

9. Data from Mapping of the IRF8 Gene Identifies a 3′UTR Variant Associated with Risk of Chronic Lymphocytic Leukemia but not Other Common Non-Hodgkin Lymphoma Subtypes

Author

Slager, Susan L., primary, Achenbach, Sara J., primary, Asmann, Yan W., primary, Camp, Nicola J., primary, Rabe, Kari G., primary, Goldin, Lynn R., primary, Call, Timothy G., primary, Shanafelt, Tait D., primary, Kay, Neil E., primary, Cunningham, Julie M., primary, Wang, Alice H., primary, Weinberg, J. Brice, primary, Norman, Aaron D., primary, Link, Brian K., primary, Leis, Jose F., primary, Vachon, Celine M., primary, Lanasa, Mark C., primary, Caporaso, Neil E., primary, Novak, Anne J., primary, and Cerhan, James R., primary

Published
2023
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10. Supplementary Table 5 from Mapping of the IRF8 Gene Identifies a 3′UTR Variant Associated with Risk of Chronic Lymphocytic Leukemia but not Other Common Non-Hodgkin Lymphoma Subtypes

Author

Slager, Susan L., primary, Achenbach, Sara J., primary, Asmann, Yan W., primary, Camp, Nicola J., primary, Rabe, Kari G., primary, Goldin, Lynn R., primary, Call, Timothy G., primary, Shanafelt, Tait D., primary, Kay, Neil E., primary, Cunningham, Julie M., primary, Wang, Alice H., primary, Weinberg, J. Brice, primary, Norman, Aaron D., primary, Link, Brian K., primary, Leis, Jose F., primary, Vachon, Celine M., primary, Lanasa, Mark C., primary, Caporaso, Neil E., primary, Novak, Anne J., primary, and Cerhan, James R., primary

Published
2023
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11. Supplementary Table 3 from Mapping of the IRF8 Gene Identifies a 3′UTR Variant Associated with Risk of Chronic Lymphocytic Leukemia but not Other Common Non-Hodgkin Lymphoma Subtypes

Author

Slager, Susan L., primary, Achenbach, Sara J., primary, Asmann, Yan W., primary, Camp, Nicola J., primary, Rabe, Kari G., primary, Goldin, Lynn R., primary, Call, Timothy G., primary, Shanafelt, Tait D., primary, Kay, Neil E., primary, Cunningham, Julie M., primary, Wang, Alice H., primary, Weinberg, J. Brice, primary, Norman, Aaron D., primary, Link, Brian K., primary, Leis, Jose F., primary, Vachon, Celine M., primary, Lanasa, Mark C., primary, Caporaso, Neil E., primary, Novak, Anne J., primary, and Cerhan, James R., primary

Published
2023
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12. Supplementary Figure 1 from Mapping of the IRF8 Gene Identifies a 3′UTR Variant Associated with Risk of Chronic Lymphocytic Leukemia but not Other Common Non-Hodgkin Lymphoma Subtypes

Author

Slager, Susan L., primary, Achenbach, Sara J., primary, Asmann, Yan W., primary, Camp, Nicola J., primary, Rabe, Kari G., primary, Goldin, Lynn R., primary, Call, Timothy G., primary, Shanafelt, Tait D., primary, Kay, Neil E., primary, Cunningham, Julie M., primary, Wang, Alice H., primary, Weinberg, J. Brice, primary, Norman, Aaron D., primary, Link, Brian K., primary, Leis, Jose F., primary, Vachon, Celine M., primary, Lanasa, Mark C., primary, Caporaso, Neil E., primary, Novak, Anne J., primary, and Cerhan, James R., primary

Published
2023
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13. Supplementary Table 1 from Mapping of the IRF8 Gene Identifies a 3′UTR Variant Associated with Risk of Chronic Lymphocytic Leukemia but not Other Common Non-Hodgkin Lymphoma Subtypes

Author

Slager, Susan L., primary, Achenbach, Sara J., primary, Asmann, Yan W., primary, Camp, Nicola J., primary, Rabe, Kari G., primary, Goldin, Lynn R., primary, Call, Timothy G., primary, Shanafelt, Tait D., primary, Kay, Neil E., primary, Cunningham, Julie M., primary, Wang, Alice H., primary, Weinberg, J. Brice, primary, Norman, Aaron D., primary, Link, Brian K., primary, Leis, Jose F., primary, Vachon, Celine M., primary, Lanasa, Mark C., primary, Caporaso, Neil E., primary, Novak, Anne J., primary, and Cerhan, James R., primary

Published
2023
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14. Supplementary Table 4 from Mapping of the IRF8 Gene Identifies a 3′UTR Variant Associated with Risk of Chronic Lymphocytic Leukemia but not Other Common Non-Hodgkin Lymphoma Subtypes

Author

Slager, Susan L., primary, Achenbach, Sara J., primary, Asmann, Yan W., primary, Camp, Nicola J., primary, Rabe, Kari G., primary, Goldin, Lynn R., primary, Call, Timothy G., primary, Shanafelt, Tait D., primary, Kay, Neil E., primary, Cunningham, Julie M., primary, Wang, Alice H., primary, Weinberg, J. Brice, primary, Norman, Aaron D., primary, Link, Brian K., primary, Leis, Jose F., primary, Vachon, Celine M., primary, Lanasa, Mark C., primary, Caporaso, Neil E., primary, Novak, Anne J., primary, and Cerhan, James R., primary

Published
2023
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15. Supplementary Table 2 from Mapping of the IRF8 Gene Identifies a 3′UTR Variant Associated with Risk of Chronic Lymphocytic Leukemia but not Other Common Non-Hodgkin Lymphoma Subtypes

Author

Slager, Susan L., primary, Achenbach, Sara J., primary, Asmann, Yan W., primary, Camp, Nicola J., primary, Rabe, Kari G., primary, Goldin, Lynn R., primary, Call, Timothy G., primary, Shanafelt, Tait D., primary, Kay, Neil E., primary, Cunningham, Julie M., primary, Wang, Alice H., primary, Weinberg, J. Brice, primary, Norman, Aaron D., primary, Link, Brian K., primary, Leis, Jose F., primary, Vachon, Celine M., primary, Lanasa, Mark C., primary, Caporaso, Neil E., primary, Novak, Anne J., primary, and Cerhan, James R., primary

Published
2023
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16. Association of elevated serumfree light chains with chronic lymphocytic leukemia and monoclonal B-cell lymphocytosis

Author

Clay-Gilmour, Alyssa I., Rishi, Abdul R., Goldin, Lynn R., Greenberg-Worisek, Alexandra J., Achenbach, Sara J., Rabe, Kari G., Maurer, Matthew J., Kay, Neil E., Shanafelt, Tait D., Call, Timothy G., Brice Weinberg, J., Camp, Nicola J., Cerhan, James R., Leis, Jose, Norman, Aaron, Murray, David L., Vincent Rajkumar, S., Caporaso, Neil E., Landgren, Ola, McMaster, Mary L., Slager, Susan L., and Vachon, Celine M.

Published
2019
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17. Genome-wide DNA methylation profiling in chronic lymphocytic leukaemia

Author

Zhang, Qiuyi, primary, Gao, Ying, additional, Lin, Shuchun, additional, Goldin, Lynn R., additional, Wang, Yonghong, additional, Stevenson, Holly, additional, Edelman, Daniel C., additional, Killian, Keith, additional, Marti, Gerald, additional, Meltzer, Paul S., additional, Xiang, Song, additional, and Caporaso, Neil E., additional

Published
2023
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19. Genetics in Lymphomagenesis

Author

Kristinsson, Sigurdur Y., Rosenquist, Richard, Landgren, Ola, Goldin, Lynn R., Björkholm, Magnus, Wiernik, Peter H., editor, Goldman, John M., editor, Dutcher, Janice P., editor, and Kyle, Robert A., editor

Published
2013
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21. Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenström macroglobulinemia

Author

McMaster, Mary L., Berndt, Sonja I., Zhang, Jianqing, Slager, Susan L., Li, Shengchao Alfred, Vajdic, Claire M., Smedby, Karin E., Yan, Huihuang, Birmann, Brenda M., Brown, Elizabeth E., Smith, Alex, Kleinstern, Geffen, Fansler, Mervin M., Mayr, Christine, Zhu, Bin, Chung, Charles C., Park, Ju-Hyun, Burdette, Laurie, Hicks, Belynda D., Hutchinson, Amy, Teras, Lauren R., Adami, Hans-Olov, Bracci, Paige M., McKay, James, Monnereau, Alain, Link, Brian K., Vermeulen, Roel C. H., Ansell, Stephen M., Maria, Ann, Diver, W. Ryan, Melbye, Mads, Ojesina, Akinyemi I., Kraft, Peter, Boffetta, Paolo, Clavel, Jacqueline, Giovannucci, Edward, Besson, Caroline M., Canzian, Federico, Travis, Ruth C., Vineis, Paolo, Weiderpass, Elisabete, Montalvan, Rebecca, Wang, Zhaoming, Yeager, Meredith, Becker, Nikolaus, Benavente, Yolanda, Brennan, Paul, Foretova, Lenka, Maynadie, Marc, Nieters, Alexandra, de Sanjose, Silvia, Staines, Anthony, Conde, Lucia, Riby, Jacques, Glimelius, Bengt, Hjalgrim, Henrik, Pradhan, Nisha, Feldman, Andrew L., Novak, Anne J., Lawrence, Charles, Bassig, Bryan A., Lan, Qing, Zheng, Tongzhang, North, Kari E., Tinker, Lesley F., Cozen, Wendy, Severson, Richard K., Hofmann, Jonathan N., Zhang, Yawei, Jackson, Rebecca D., Morton, Lindsay M., Purdue, Mark P., Chatterjee, Nilanjan, Offit, Kenneth, Cerhan, James R., Chanock, Stephen J., Rothman, Nathaniel, Vijai, Joseph, Goldin, Lynn R., Skibola, Christine F., and Caporaso, Neil E.

Published
2018
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23. Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family

Author

Pathak, Anand, Pemov, Alexander, McMaster, Mary L., Dewan, Ramita, Ravichandran, Sarangan, Pak, Evgenia, Dutra, Amalia, Lee, Hyo Jung, Vogt, Aurelie, Zhang, Xijun, Yeager, Meredith, Anderson, Stacie, Kirby, Martha, Caporaso, Neil, Greene, Mark H., Goldin, Lynn R., Stewart, Douglas R., NCI DCEG Cancer Genomics Research Laboratory, and NCI DCEG Cancer Sequencing Working Group

Published
2015
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25. Mutations in a Gene Encoding a Midbody Kelch Protein in Familial and Sporadic Classical Hodgkin Lymphoma Lead to Binucleated Cells

Author

Salipante, Stephen J., Mealiffe, Matthew E., Wechsler, Jeremy, Krem, Maxwell M., Liu, Yajuan, Namkoong, Shinae, Bhagat, Govind, Kirchhoff, Tomas, Offit, Kenneth, Lynch, Henry, Wiernik, Peter H., Roshal, Mikhail, McMaster, Mary Lou, Tucker, Margaret, Fromm, Jonathan R., Goldin, Lynn R., Horwitz, Marshall S., and King, Mary-Claire

Published
2009
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27. Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL

Author

Slager, Susan L., Rabe, Kari G., Achenbach, Sara J., Vachon, Celine M., Goldin, Lynn R., Strom, Sara S., Lanasa, Mark C., Spector, Logan G., Rassenti, Laura Z., Leis, Jose F., Camp, Nicola J., Glenn, Martha, Kay, Neil E., Cunningham, Julie M., Hanson, Curtis A., Marti, Gerald E., Weinberg, J. Brice, Morrison, Vicki A., Link, Brian K., Call, Timothy G., Caporaso, Neil E., and Cerhan, James R.

Published
2011
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28. Genome-wide DNA methylation profiling in chronic lymphocytic leukaemia.

Author

Qiuyi Zhang, Ying Gao, Shuchun Lin, Goldin, Lynn R., Yonghong Wang, Stevenson, Holly, Edelman, Daniel C., Killian, Keith, Marti, Gerald, Meltzer, Paul S., Song Xiang, and Caporaso, Neil E.

Subjects
METHYLATION, LYMPHOCYTIC leukemia, CHRONIC leukemia, DNA methylation, POPULATION-based case control, RNA methylation, BETAINE
Abstract

Background: DNA methylation aberrations are widespread among the malignant B lymphocytes of patients with chronic lymphocytic leukaemia (CLL), suggesting that DNA methylation might contribute to the pathogenesis of CLL. Aim: We aimed to explore the differentially methylated positions (DMPs) associated with CLL and screen the differentially methylated and expressed genes (DMEGs) by combining public databases. We aimed to observe the direction of each DMEG in CLL based on the DMPs in the promoter and the body region respectively to narrow down DMEGs. We also aimed to explore the methylation heterogeneity of CLL subgroups and the effect of B cells maturation on CLL. Methods: In this population-based case control study, we reported a genome-wide DNA methylation association study using the Infinium HumanMethylation450 BeadChip, profiling the DNA methylation of CD19+ B Cells from 48 CLL cases and 28 healthy controls. By integrating methylation data and expression data from public databases, gene sets were jointly screened, and then the relationship between methylation sites in promoter and body region and expression of each gene was explored. In addition, support vector machine (SVM) classification algorithm was used to identify subgroups of CLL cases based on methylation pattern, and the effect of B-cell differentiation related methylation sites on CLL-related sites was observed. Results: We identified 34,797 DMPs related to CLL across the genome, most of which were hypomethylated; the majority were located in gene body regions. By combining these DMPs with published DNA methylation and RNA sequencing data, we detected 26,244 replicated DMPs associated with 1,130 genes whose expression were significantly different in CLL cases. Among these DMEGs, nine low expressed DMEGs were selected with hypermethylated in promoter and hypomethylated in body region, and 83 high expressed DMEGs were selected with both hypomethylated in promoter and body region. The 48 CLL cases were divided into 3 subgroups based on methylation site by SVM algorithm. Over 92% of CpGs associated with B cell subtypes were found in CLL-related DMPs. Conclusion: The DNAmethylation pattern was altered across the genome in CLL patients. The methylation of ZAP70, FMOD, and ADAMTS17 was significantly different between CLL cases and controls. Further studies are warranted to confirm our findings and identify the underlying mechanisms through which these methylation markers are associated with CLL. [ABSTRACT FROM AUTHOR]

Published
2023
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35. A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma

Author

Landi, Maria Teresa, Chatterjee, Nilanjan, Kai Yu, Goldin, Lynn R., Goldstein, Alisa M., Rotunno, Melissa, Mirabello, Lisa, Jacobs, Kevin, Wheeler, William, Yeager, Meredith, Bergen, Andrew W., Qizhai Li, Consonni, Dario, Pesatori, Angela C., Wacholder, Sholom, Thun, Michael, Diver, Ryan, Oken, Martin, Virtamo, Jarmo, Albanes, Demetrius, Zhaoming Wang, Burdette, Laurie, Doheny, Kimberly F., Pugh, Elizabeth W., Laurie, Cathy, Brennan, Paul, Rayjean Hung, Gaborieau, Valerie, McKay, James D., Lathrop, Mark, McLaughlin, John, Ying Wang, Ming-Sound Tsao, Spitz, Margaret R., Yufei Wang, Krokan, Hans, Vatten, Lars, Skorpen, Frank, Arnesen, Egil, and Benhamou, Simone

Subjects
Adenocarcinoma -- Genetic aspects, Human genome -- Research, Single nucleotide polymorphisms -- Analysis, Biological sciences
Abstract

Several genome-wide association studies are conducted to identify the different genetic loci that can be associated with lung cancer in humans. The analysis reveals the presence of a region of chromosome 5p15, which is shown to be widely related to the risk of adenocarcinoma.

Published
2009

36. Prevalence of monoclonal gammopathy of undetermined significance among men in Ghana

Author

Landgren, Ola, Katzmann, Jerry A., Hsing, Ann W., Pfeiffer, Ruth M., Kyle, Robert A., Yeboah, Edward D., Biritwum, Richard B., Tettey, Yao, Adjei, Andrew A., Larson, Dirk R., Dispenzieri, Angela, Melton, L. Joseph, III, Goldin, Lynn R., McMaster, Mary L., Caporaso, Neil E., and Rajkumar, S. Vincent

Subjects
Monoclonal gammopathies -- Risk factors, Monoclonal gammopathies -- Demographic aspects
Abstract

OBJECTIVES: To determine the prevalence of monoclonal gammopathy of undetermined significance (MGUS), a precursor of multiple myeloma (MM), in Ghanaian men vs white men and to test for evidence to [...]

Published
2007

38. Genomewide linkage screen for Waldenstrom macroglobulinemia susceptibility loci in high-risk families

Author

McMaster, Mary L., Goldin, Lynn R., Yan Bai, Ter-Minassian, Monica, Boehringer, Stefan, Giambarresi, Therese R., Vasquez, Linda G., and Tucker, Margaret A.

Subjects
Macroglobulinemia -- Genetic aspects, Macroglobulinemia -- Diagnosis, Macroglobulinemia -- Research, Genetic susceptibility -- Research, Genetic markers -- Usage, Biological sciences
Abstract

A systematic genetic analysis of familial Waldenstrom macroglobulinemia (WM) was conducted in 11 high-risk families to apply highly informative, densely spaced markers in a whole-genome search for linkage analysis. Results strongly suggest linkage to regions on chromosomes 1q and 4q when immunoglobulin M monoclonal gammopathy of undetermined significance (IgM MGUS) is also considered a phenotypic marker of susceptibility in these families.

Published
2006

39. Genome-Wide DNA Methylation Profiling in Chronic Lymphocytic Leukaemia

Author

Gao, Ying, primary, Zhang, Qiuyi, additional, Lin, Shuchun, additional, Goldin, Lynn R., additional, Wang, Yonghong, additional, Stevenson, Holly, additional, Edelman, Daniel C., additional, Killian, Keith, additional, Marti, Gerald, additional, Meltzer, Paul S., additional, Xiang, Song, additional, and Caporaso, Neil E., additional

Published
2021
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40. Genetics in Lymphomagenesis

Author

Kristinsson, Sigurdur Y., primary, Rosenquist, Richard, additional, Landgren, Ola, additional, Goldin, Lynn R., additional, and Björkholm, Magnus, additional

Published
2012
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41. Genome scan meta-analysis of schizophrenia and bipolar disorder, Part III: bipolar disorder

Author

Segurado, Ricardo, Detera-Wadleigh, Sevilla D., Levinson, Douglas F., Lewis, Cathryn M., Gill, Michael, Nurnberger, John I., Jr., Craddock, Nick, DePaulo, J. Raymond, Baron, Miron, Gershon, Elliot S., Ekholm, Jenny, Cichon, Sven, Turecki, Gustavo, Claes, Stephan, Kelsoe, John R., Schofield, Peter R., Badenhop, Renee F., Morissette, J., Coon, Hilary, Blackwood, Douglas, McInnes, L. Alison, Foroud, Tatiana, Edenberg, Howard J., Reich, Theodore, Rice, John P., Goate, Alison, McInnis, Melvin G., McMahon, Francis J., Badner, Judith A., Goldin, Lynn R., Bennett, Phil, Willour, Virginia L., Zandi, Peter P., Liu, Jianjun, Gilliam, Conrad, Juo, Suh-Hang, Berrettini, Wade H., Yoshikawa, Takeo, Peltonen, Leena, Lonnqvist, Jouko, Nothen, Markus M., Schumacher, Johannes, Windemuth, Christine, Rietschel, Marcella, Propping, Peter, Maier, Wolfgang, Alda, Martin, Grof, Paul, Rouleau, Guy A., Del-Favero, Jurgen, Van Broeckhoven, Christine, Mendlewicz, Julien, Adolfsson, Rolf, Spence, M. Anne, Luebbert, Hermann, Adams, Linda J., Donald, Jennifer A., Mitchell, Philip B., Barden, Nicholas, Shink, Eric, Byerley, William, Muir, Walter, Visscher, Peter M., Macgregor, Stuart, Gurling, Hugh, Kalsi, Gursharan, McQuillin, Andrew, Escamilla, Michael A., Reus, Victor I., Leon, Pedro, Freimer, Nelson B., Ewald, Henrik, Kruse, Torben A., Mors, Ole, Radhakrishna, Uppala, Blouin, Jean-Louis, Antonarakis, Stylianos E., and Akarsu, Nurten

Subjects
Bipolar disorder -- Research, Bipolar disorder -- Genetic aspects, Schizophrenia -- Research, Schizophrenia -- Genetic aspects, Biological sciences
Published
2003

43. Common occurrence of monoclonal B-cell lymphocytosis among members of high-risk CLL families

Author

Goldin, Lynn R., Lanasa, Mark C., Slager, Susan L., Cerhan, James R., Vachon, Celine M., Strom, Sara S., Camp, Nicola J., Spector, Logan G., Leis, Jose F., Morrison, Vicki A., Glenn, Martha, Rabe, Kari G., Achenbach, Sara J., Algood, Sallie D., Abbasi, Fatima, Fontaine, Laura, Yau, Michelle, Rassenti, Laura Z., Kay, Neil E., Call, Timothy G., Hanson, Curtis A., Weinberg, Brice J., Marti, Gerald E., and Caporaso, Neil E.

Published
2010
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