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543 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
Biological Sciences, Genetics, Lymphatic Research, Cancer Genomics, Cancer, Hematology, Prevention, Lymphoma, Rare Diseases, Human Genome, 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, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational 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
Biological Sciences, Genetics, Rare Diseases, Lymphatic Research, Lymphoma, Human Genome, Prevention, Cancer, Hematology, 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, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational 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

10. 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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12. 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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14. 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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16. 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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17. 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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21. 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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25. 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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30. 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

32. 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

34. 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

35. 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

40. Optimal ascertainment strategies to detect linkage to common disease

Author

Badner, Judith A., Gershon, Elliot S., and Goldin, Lynn R.

Subjects
Linkage (Genetics) -- Research, Genetic disorders -- Research, Biological sciences
Abstract

Collecting extended pedigrees is most appropriate when the susceptibility allele is rare, and pedigrees with first or second cousins are most effective for linkage detection. The extended pedigree is not very helpful, however, for qualitative traits with common alleles in single-locus, additive or multiplicative models. In addition, the power decreases when the pedigrees include many affected individuals.

Published
1998

45. Additional file 1: of Sex-related DNA methylation differences in B cell chronic lymphocytic leukemia

Author

Shuchun Lin, Liu, Yun, Goldin, Lynn, Lyu, Chen, Xiangyin Kong, Zhang, Yan, Caporaso, Neil, Xiang, Song, and Gao, Ying

Abstract

Table S1. Samples for RNA-Seq analysis and replication of DNA methylation. Table S2. CLL subgroups of this study classified by Queiros et al. Table S3. Normal B cells subtypes samples from Kulis et al. Figure S1. Sex-related X chromosomal DMPs stratified by gene features and CpG features. Figure S2a. Thirty-six replicated autosomal DMPs. b. The 7 X chromosomal DMPs of figure 2d in EGA data. c. Genes with numbers of X chromosomal DMPs ≥ 4 in EGA data. Figure S3a. CLL sex-related DEGs. b. The 18 DNAm-DEGs and their DMPs. Figure S4a. There were 549 X chromosomal DMPs with median β 0.8 in CLL females. b. Genes with at least 3 DMPs in Figure S4a (N=43). Figure S5. MED14 hotspot detected by FEM algorithm. (DOCX 3039 kb)

Published
2019
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46. Environment And Genetics in Lung cancer Etiology (EAGLE) study: An integrative population-based case-control study of lung cancer

Author

Colombi Antonio, Albetti Benedetta, Marinelli Barbara, Rubagotti Maurizia, Corno Massimo, Linnoila Ilona, Previdi Fabrizio, Subar Amy F, Morgan Glen, Alavanja Michael, Goldin Lynn, Lubin Jay H, Goldstein Alisa M, Bergen Andrew W, Rotunno Melissa, Consonni Dario, Landi Maria Teresa, Tucker Margaret, Wacholder Sholom, Pesatori Angela C, Caporaso Neil E, and Bertazzi Pier Alberto

Subjects
Public aspects of medicine, RA1-1270
Abstract

Abstract Background Lung cancer is the leading cause of cancer mortality worldwide. Tobacco smoking is its primary cause, and yet the precise molecular alterations induced by smoking in lung tissue that lead to lung cancer and impact survival have remained obscure. A new framework of research is needed to address the challenges offered by this complex disease. Methods/Design We designed a large population-based case-control study that combines a traditional molecular epidemiology design with a more integrative approach to investigate the dynamic process that begins with smoking initiation, proceeds through dependency/smoking persistence, continues with lung cancer development and ends with progression to disseminated disease or response to therapy and survival. The study allows the integration of data from multiple sources in the same subjects (risk factors, germline variation, genomic alterations in tumors, and clinical endpoints) to tackle the disease etiology from different angles. Before beginning the study, we conducted a phone survey and pilot investigations to identify the best approach to ensure an acceptable participation in the study from cases and controls. Between 2002 and 2005, we enrolled 2101 incident primary lung cancer cases and 2120 population controls, with 86.6% and 72.4% participation rate, respectively, from a catchment area including 216 municipalities in the Lombardy region of Italy. Lung cancer cases were enrolled in 13 hospitals and population controls were randomly sampled from the area to match the cases by age, gender and residence. Detailed epidemiological information and biospecimens were collected from each participant, and clinical data and tissue specimens from the cases. Collection of follow-up data on treatment and survival is ongoing. Discussion EAGLE is a new population-based case-control study that explores the full spectrum of lung cancer etiology, from smoking addiction to lung cancer outcome, through examination of epidemiological, molecular, and clinical data. We have provided a detailed description of the study design, field activities, management, and opportunities for research following this integrative approach, which allows a sharper and more comprehensive vision of the complex nature of this disease. The study is poised to accelerate the emergence of new preventive and therapeutic strategies with potentially enormous impact on public health.

Published
2008
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47. Additional file 2: of Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls

Author

Kim, Jung, Luo, Wen, Mingyi Wang, Wegman-Ostrosky, Talia, Frone, Megan, Johnston, Jennifer, Nickerson, Michael, Rotunno, Melissa, Shengchao Li, Achatz, Maria, Brodie, Seth, Dean, Michael, Andrade, Kelvin, Fortes, Fernanda, Gianferante, Matthew, Payal Khincha, McMaster, Mary, McReynolds, Lisa, Pemov, Alexander, Pinheiro, Maisa, Santiago, Karina, Alter, Blanche, Caporaso, Neil, Shahinaz Gadalla, Goldin, Lynn, Greene, Mark, Loud, Jennifer, Xiaohong Yang, Freedman, Neal, Gapstur, Susan, Gaudet, Mia, Calista, Donato, Ghiorzo, Paola, Fargnoli, Maria, Nagore, Eduardo, Peris, Ketty, Puig, Susana, Landi, Maria, Belynda Hicks, Zhu, Bin, Liu, Jia, Sampson, Joshua, Chanock, Stephen, Mirabello, Lisa, Morton, Lindsay, Biesecker, Leslie, Tucker, Margaret, Savage, Sharon, Goldstein, Alisa, and Stewart, Douglas

Abstract

Figure S1. Population stratification of cancer cases and controls. Figure S2. Principal component analysis of cancer cases and controls. Table S1. Study names and predominant cancer types in DCEG Familial Exome cohort. (PDF 449 kb)

Published
2018
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48. Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

Author

Law, Philip J, Berndt, Sonja I, Speedy, Helen E, Camp, Nicola J, Sava, Georgina P, Skibola, Christine F, Holroyd, Amy, Joseph, Vijai, Sunter, Nicola J, Nieters, Alexandra, Bea, Silvia, Monnereau, Alain, Martin-Garcia, David, Goldin, Lynn R, Clot, Guillem, Teras, Lauren R, Quintela, Inés, Birmann, Brenda M, Jayne, Sandrine, Cozen, Wendy, Majid, Aneela, Smedby, Karin E, Lan, Qing, Dearden, Claire, Brooks-Wilson, Angela R., Hall, Andrew G, Purdue, Mark P, Mainou-Fowler, Tryfonia, Vajdic, Claire M, Jackson, Graham H, Cocco, Pierluigi, Marr, Helen, Zhang, Yawei, Zheng, Tongzhang, Giles, Graham G, Lawrence, Charles, Call, Timothy G, Liebow, Mark, Melbye, Mads, Glimelius, Bengt, Mansouri, Larry, Glenn, Martha, Curtin, Karen, Diver, W Ryan, Link, Brian K, Conde, Lucia, Bracci, Paige M., Holly, Elizabeth A, Jackson, Rebecca D, Tinker, Lesley F, Benavente, Yolanda, Boffetta, Paolo, Brennan, Paul, Maynadie, Marc, McKay, James, Albanes, Demetrius, Weinstein, Stephanie, Wang, Zhaoming, Caporaso, Neil E., Morton, Lindsay M, Severson, Richard K, Riboli, Elio, Vineis, Paolo, Vermeulen, Roel C H, Southey, Melissa C, Milne, Roger L., Clavel, Jacqueline, Topka, Sabine, Spinelli, John J, Kraft, Peter, Ennas, Maria Grazia, Summerfield, Geoffrey, Ferri, Giovanni M, Harris, Robert J, Miligi, Lucia, Pettitt, Andrew R, North, Kari E, Allsup, David J, Fraumeni, Joseph F, Bailey, James R, Offit, Kenneth, Pratt, Guy, Hjalgrim, Henrik, Pepper, Christopher, Chanock, Stephen J, Fegan, Chris, Rosenquist, Richard, de Sanjose, Silvia, Carracedo, Angel, Dyer, Martin J S, Catovsky, Daniel, Campo, Elias, Cerhan, James R., Allan, James M, Rothman, Nathanial, Houlston, Richard, Slager, Susan, National Cancer Institute [Bethesda] (NCI-NIH), National Institutes of Health [Bethesda] (NIH), Microsoft Research [Redmond], Microsoft Corporation [Redmond, Wash.], Department of Physics, Loyola College, Nungambakkam, Chennai – 600 034, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona (UB), University of Aleppo [Aleppo], Sea Mammal Research Unit [University of St Andrews] (SMRU), School of Biology [University of St Andrews], University of St Andrews [Scotland]-University of St Andrews [Scotland]-Natural Environment Research Council (NERC), Department of Chemical Engineering, Imperial College London, De la Molécule aux Nanos-objets : Réactivité, Interactions et Spectroscopies (MONARIS), Institut de Chimie du CNRS (INC)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), The Cancer Council Victoria, University of Oulu, Uppsala Universitet [Uppsala], Université Paris Nanterre (UPN), University of Iowa [Iowa City], Registre des hémopathies malignes de Côte d'Or, Institut de Radioprotection et de Sûreté Nucléaire (IRSN), B.B. Brodie Department of Neuroscience, Pennsylvania State University (Penn State), Penn State System, University of Newcastle [Australia] (UoN), Astrophysique Interprétation Modélisation (AIM (UMR_7158 / UMR_E_9005 / UM_112)), Centre National de la Recherche Scientifique (CNRS)-Institut national des sciences de l'Univers (INSU - CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Diderot - Paris 7 (UPD7), Department of Haematology, School of Medicine, Cardiff University, CIBER de Enfermedades Raras (CIBERER), University of Leeds, Haemato-oncology, Institute of cancer research, Mayo Clinic [Rochester], Northern Institute for Cancer Research [Newcastle] (NICR), Newcastle University [Newcastle], Institute of Cancer Research, Belmont, Sutton, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut national des sciences de l'Univers (INSU - CNRS)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Sea Mammal Research Unit, Scottish Oceans Institute, University of St Andrews [Scotland], Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), University of Cardiff, Équipe Instrumentation embarquée et systèmes de surveillance intelligents (LAAS-S4M), Laboratoire d'analyse et d'architecture des systèmes (LAAS), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse 1 Capitole (UT1)-Université Toulouse - Jean Jaurès (UT2J)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse 1 Capitole (UT1)-Université Toulouse - Jean Jaurès (UT2J), University of Newcastle [Callaghan, Australia] (UoN), Astrophysique Interprétation Modélisation (AIM (UMR7158 / UMR_E_9005 / UM_112)), LS IRAS EEPI GRA (Gezh.risico-analyse), dIRAS RA-2, Université Toulouse 1 Capitole (UT1)-Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse 1 Capitole (UT1)-Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), and Université Fédérale Toulouse Midi-Pyrénées

Subjects
Adult, Male, RM, Cancer och onkologi, B-Lymphocytes, [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT], Science, Chromosome Mapping, Middle Aged, Leukemia, Lymphocytic, Chronic, B-Cell, Polymorphism, Single Nucleotide, Article, Young Adult, Cancer and Oncology, Case-Control Studies, Antibody Formation, Chromosomes, Human, Humans, Female, Genetic Predisposition to Disease, RC, Genome-Wide Association Study
Abstract

Several chronic lymphocytic leukaemia (CLL) susceptibility loci have been reported; however, much of the heritable risk remains unidentified. Here we perform a meta-analysis of six genome-wide association studies, imputed using a merged reference panel of 1,000 Genomes and UK10K data, totalling 6,200 cases and 17,598 controls after replication. We identify nine risk loci at 1p36.11 (rs34676223, P=5.04 × 10−13), 1q42.13 (rs41271473, P=1.06 × 10−10), 4q24 (rs71597109, P=1.37 × 10−10), 4q35.1 (rs57214277, P=3.69 × 10−8), 6p21.31 (rs3800461, P=1.97 × 10−8), 11q23.2 (rs61904987, P=2.64 × 10−11), 18q21.1 (rs1036935, P=3.27 × 10−8), 19p13.3 (rs7254272, P=4.67 × 10−8) and 22q13.33 (rs140522, P=2.70 × 10−9). These new and established risk loci map to areas of active chromatin and show an over-representation of transcription factor binding for the key determinants of B-cell development and immune response., Chronic lymphocytic leukaemia has a hereditary component, much of which remains to be identified. Here, the authors perform a genome-wide association study and find new risk loci for the disease, which are associated with genes involved in immune function.

Published
2017
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49. Whole exome sequencing in families with CLL detects a variant in Integrin β 2 associated with disease susceptibility

Author

Goldin, Lynn R., McMaster, Mary L., Rotunno, Melissa, Herman, Sarah E.M., Jones, Kristine, Zhu, Bin, Boland, Joseph, Burdett, Laurie, Hicks, Belynda, Ravichandran, Sarangan, Luke, Brian T., Yeager, Meredith, Fontaine, Laura, Goldstein, Alisa M., Chanock, Stephen J., Tucker, Margaret A., Wiestner, Adrian, Marti, Gerald, and Caporaso, Neil E.

Published
2016
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50. Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls

Author

Kim, Jung, primary, Luo, Wen, additional, Wang, Mingyi, additional, Wegman-Ostrosky, Talia, additional, Frone, Megan N., additional, Johnston, Jennifer J., additional, Nickerson, Michael L., additional, Rotunno, Melissa, additional, Li, Shengchao A., additional, Achatz, Maria I., additional, Brodie, Seth A., additional, Dean, Michael, additional, de Andrade, Kelvin C., additional, Fortes, Fernanda P., additional, Gianferante, Matthew, additional, Khincha, Payal, additional, McMaster, Mary L., additional, McReynolds, Lisa J., additional, Pemov, Alexander, additional, Pinheiro, Maisa, additional, Santiago, Karina M., additional, Alter, Blanche P., additional, Caporaso, Neil E., additional, Gadalla, Shahinaz M., additional, Goldin, Lynn R., additional, Greene, Mark H., additional, Loud, Jennifer, additional, Yang, Xiaohong R., additional, Freedman, Neal D., additional, Gapstur, Susan M., additional, Gaudet, Mia M., additional, Calista, Donato, additional, Ghiorzo, Paola, additional, Fargnoli, Maria Concetta, additional, Nagore, Eduardo, additional, Peris, Ketty, additional, Puig, Susana, additional, Landi, Maria Teresa, additional, Hicks, Belynda, additional, Zhu, Bin, additional, Liu, Jia, additional, Sampson, Joshua N., additional, Chanock, Stephen J., additional, Mirabello, Lisa J., additional, Morton, Lindsay M., additional, Biesecker, Leslie G., additional, Tucker, Margaret A., additional, Savage, Sharon A., additional, Goldstein, Alisa M., additional, and Stewart, Douglas R., additional

Published
2018
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