275 results on '"Gold, Bert"'
Search Results
2. Next Generation Sequencing Reveals High Prevalence of BRCA1 and BRCA2 Variants of Unknown Significance in Early-Onset Breast Cancer in African American Women
- Author
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Ricks-Santi, Luisel, McDonald, J. Tyson, Gold, Bert, Dean, Michael, Thompson, Nicole, Abbas, Muneer, Wilson, Bradford, Kanaan, Yasmine, Naab, Tammey J., and Dunston, Georgia
- Published
- 2017
3. Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping.
- Author
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Olshen, Adam B, Gold, Bert, Lohmueller, Kirk E, Struewing, Jeffery P, Satagopan, Jaya, Stefanov, Stefan A, Eskin, Eleazar, Kirchhoff, Tomas, Lautenberger, James A, Klein, Robert J, Friedman, Eitan, Norton, Larry, Ellis, Nathan A, Viale, Agnes, Lee, Catherine S, Borgen, Patrick I, Clark, Andrew G, Offit, Kenneth, and Boyd, Jeff
- Subjects
Humans ,Chromosome Mapping ,Gene Frequency ,Genotype ,Haplotypes ,Homozygote ,Linkage Disequilibrium ,Polymorphism ,Single Nucleotide ,Principal Component Analysis ,Jews ,Female ,Genetic Variation ,Polymorphism ,Single Nucleotide ,Genetics & Heredity ,Genetics - Abstract
BackgroundGenetic isolates such as the Ashkenazi Jews (AJ) potentially offer advantages in mapping novel loci in whole genome disease association studies. To analyze patterns of genetic variation in AJ, genotypes of 101 healthy individuals were determined using the Affymetrix EAv3 500 K SNP array and compared to 60 CEPH-derived HapMap (CEU) individuals. 435,632 SNPs overlapped and met annotation criteria in the two groups.ResultsA small but significant global difference in allele frequencies between AJ and CEU was demonstrated by a mean FST of 0.009 (P < 0.001); large regions that differed were found on chromosomes 2 and 6. Haplotype blocks inferred from pairwise linkage disequilibrium (LD) statistics (Haploview) as well as by expectation-maximization haplotype phase inference (HAP) showed a greater number of haplotype blocks in AJ compared to CEU by Haploview (50,397 vs. 44,169) or by HAP (59,269 vs. 54,457). Average haplotype blocks were smaller in AJ compared to CEU (e.g., 36.8 kb vs. 40.5 kb HAP). Analysis of global patterns of local LD decay for closely-spaced SNPs in CEU demonstrated more LD, while for SNPs further apart, LD was slightly greater in the AJ. A likelihood ratio approach showed that runs of homozygous SNPs were approximately 20% longer in AJ. A principal components analysis was sufficient to completely resolve the CEU from the AJ.ConclusionLD in the AJ versus was lower than expected by some measures and higher by others. Any putative advantage in whole genome association mapping using the AJ population will be highly dependent on regional LD structure.
- Published
- 2008
4. Supplementary Table 1 from The 6q22.33 Locus and Breast Cancer Susceptibility
- Author
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Kirchhoff, Tomas, primary, Chen, Zhang-qun, primary, Gold, Bert, primary, Pal, Prodipto, primary, Gaudet, Mia M., primary, Kosarin, Kristi, primary, Levine, Douglas A., primary, Gregersen, Peter, primary, Spencer, Sara, primary, Harlan, Megan, primary, Robson, Mark, primary, Klein, Robert J., primary, Hudis, Clifford A., primary, Norton, Larry, primary, Dean, Michael, primary, and Offit, Kenneth, primary
- Published
- 2023
- Full Text
- View/download PDF
5. Data from The 6q22.33 Locus and Breast Cancer Susceptibility
- Author
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Kirchhoff, Tomas, primary, Chen, Zhang-qun, primary, Gold, Bert, primary, Pal, Prodipto, primary, Gaudet, Mia M., primary, Kosarin, Kristi, primary, Levine, Douglas A., primary, Gregersen, Peter, primary, Spencer, Sara, primary, Harlan, Megan, primary, Robson, Mark, primary, Klein, Robert J., primary, Hudis, Clifford A., primary, Norton, Larry, primary, Dean, Michael, primary, and Offit, Kenneth, primary
- Published
- 2023
- Full Text
- View/download PDF
6. Supplementary Table Legend from The 6q22.33 Locus and Breast Cancer Susceptibility
- Author
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Kirchhoff, Tomas, primary, Chen, Zhang-qun, primary, Gold, Bert, primary, Pal, Prodipto, primary, Gaudet, Mia M., primary, Kosarin, Kristi, primary, Levine, Douglas A., primary, Gregersen, Peter, primary, Spencer, Sara, primary, Harlan, Megan, primary, Robson, Mark, primary, Klein, Robert J., primary, Hudis, Clifford A., primary, Norton, Larry, primary, Dean, Michael, primary, and Offit, Kenneth, primary
- Published
- 2023
- Full Text
- View/download PDF
7. Data from The Signatures of Autozygosity among Patients with Colorectal Cancer
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Bacolod, Manny D., primary, Schemmann, Gunter S., primary, Wang, Shuang, primary, Shattock, Richard, primary, Giardina, Sarah F., primary, Zeng, Zhaoshi, primary, Shia, Jinru, primary, Stengel, Robert F., primary, Gerry, Norman, primary, Hoh, Josephine, primary, Kirchhoff, Tomas, primary, Gold, Bert, primary, Christman, Michael F., primary, Offit, Kenneth, primary, Gerald, William L., primary, Notterman, Daniel A., primary, Ott, Jurg, primary, Paty, Philip B., primary, and Barany, Francis, primary
- Published
- 2023
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- View/download PDF
8. Supplementary Information from The Signatures of Autozygosity among Patients with Colorectal Cancer
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Bacolod, Manny D., primary, Schemmann, Gunter S., primary, Wang, Shuang, primary, Shattock, Richard, primary, Giardina, Sarah F., primary, Zeng, Zhaoshi, primary, Shia, Jinru, primary, Stengel, Robert F., primary, Gerry, Norman, primary, Hoh, Josephine, primary, Kirchhoff, Tomas, primary, Gold, Bert, primary, Christman, Michael F., primary, Offit, Kenneth, primary, Gerald, William L., primary, Notterman, Daniel A., primary, Ott, Jurg, primary, Paty, Philip B., primary, and Barany, Francis, primary
- Published
- 2023
- Full Text
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9. Breast Cancer Stem Cells
- Author
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Gold, Bert, Dean, Michael, and Majumder, Sadhan, editor
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- 2009
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10. Expanded Carrier Screening and Professional Society Guidelines: One Laboratory’s Experience [7E]
- Author
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Westemeyer, Maggie, Saucier, Jennifer, Gold, Bert, Hedriana, Herman, and Martin, Kimberly A.
- Published
- 2018
- Full Text
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11. Exosomes derived from endometriotic stromal cells have enhanced angiogenic effects in vitro
- Author
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Harp, Djana, Driss, Adel, Mehrabi, Sharifeh, Chowdhury, Indrajit, Xu, Wei, Liu, Dong, Garcia-Barrio, Minerva, Taylor, Robert N., Gold, Bert, Jefferson, Samantha, Sidell, Neil, and Thompson, Winston
- Published
- 2016
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12. Partial Retraction: Detection of an Infectious Retrovirus, XMRV, in Blood Cells of Patients with Chronic Fatigue Syndrome
- Author
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SILVERMAN, ROBERT H., GUPTA, JAYDIP DAS, LOMBARDI, VINCENT C., RUSCETTI, FRANCIS W., PFOST, MAX A., HAGEN, KATHRYN S., PETERSON, DANIEL L., RUSCETTI, SANDRA K., BAGNI, RACHEL K., PETROW-SADOWSKI, CARI, GOLD, BERT, DEAN, MICHAEL, and MIKOVITS, JUDY A.
- Published
- 2011
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13. Detection of an Infectious Retrovirus, XMRV, in Blood Cells of Patients with Chronic Fatigue Syndrome
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Lombardi, Vincent C., Ruscetti, Francis W., Gupta, Jaydip Das, Pfost, Max A., Hagen, Kathryn S., Peterson, Daniel L., Ruscetti, Sandra K., Bagni, Rachel K., Petrow-Sadowski, Cari, Gold, Bert, Dean, Michael, Silverman, Robert H., and Mikovits, Judy A.
- Published
- 2009
- Full Text
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14. Genome-Wide Association Study Provides Evidence for a Breast Cancer Risk Locus at 6q22.33
- Author
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Gold, Bert, Kirchhoff, Tomas, Stefanov, Stefan, Lautenberger, James, Viale, Agnes, Garber, Judy, Friedman, Eitan, Narod, Steven, Olshen, Adam B., Gregersen, Peter, Kosarin, Kristi, Olsh, Adam, Bergeron, Julie, Ellis, Nathan A., Klein, Robert J., Clark, Andrew G., Norton, Larry, Dean, Michael, Boyd, Jeff, and Offit, Kenneth
- Published
- 2008
- Full Text
- View/download PDF
15. Nucleotide Sequence of a Preferred Maize Chloroplast Genome Template for in vitro DNA Synthesis
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Gold, Bert, Carrillo, Nestor, Tewari, Krishna K., and Bogorad, Lawrence
- Published
- 1987
16. Promoter variants in the MSMB gene associated with prostate cancer regulate MSMB/NCOA4 fusion transcripts
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Lou, Hong, Li, Hongchuan, Yeager, Meredith, Im, Kate, Gold, Bert, Schneider, Thomas D., Fraumeni, Jr., Joseph F., Chanock, Stephen J., Anderson, Stephen K., and Dean, Michael
- Published
- 2012
- Full Text
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17. Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
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Im, Kate M., Kirchhoff, Tomas, Wang, Xianshu, Green, Todd, Chow, Clement Y., Vijai, Joseph, Korn, Joshua, Gaudet, Mia M., Fredericksen, Zachary, Shane Pankratz, V., Guiducci, Candace, Crenshaw, Andrew, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M., Mai, Phuong L., Greene, Mark H., Piedmonte, Marion, Rubinstein, Wendy S., Hogervorst, Frans B., Rookus, Matti A., Collée, J. Margriet, Hoogerbrugge, Nicoline, van Asperen, Christi J., Meijers-Heijboer, Hanne E. J., Van Roozendaal, Cees E., Caldes, Trinidad, Perez-Segura, Pedro, Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Blecharz, Paweł, Nevanlinna, Heli, Aittomäki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Barkardottir, Rosa B., Montagna, Marco, D’Andrea, Emma, Devilee, Peter, Olopade, Olufunmilayo I., Neuhausen, Susan L., Peissel, Bernard, Bonanni, Bernardo, Peterlongo, Paolo, Singer, Christian F., Rennert, Gad, Lejbkowicz, Flavio, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Toland, Amanda Ewart, Caligo, Maria Adelaide, Beattie, Mary S., Chan, Salina, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Phelan, Catherine, Narod, Steven, John, Esther M., Hopper, John L., Buys, Saundra S., Daly, Mary B., Southey, Melissa C., Terry, Mary-Beth, Tung, Nadine, Hansen, Thomas v. O., Osorio, Ana, Benitez, Javier, Durán, Mercedes, Weitzel, Jeffrey N., Garber, Judy, Hamann, Ute, Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Platte, Radka, Evans, D. Gareth, Eeles, Ros, Izatt, Louise, Paterson, Joan, Brewer, Carole, Hodgson, Shirley, Morrison, Patrick J., Porteous, Mary, Walker, Lisa, Rogers, Mark T., Side, Lucy E., Godwin, Andrew K., Schmutzler, Rita K., Wappenschmidt, Barbara, Laitman, Yael, Meindl, Alfons, Deissler, Helmut, Varon-Mateeva, Raymonda, Preisler-Adams, Sabine, Kast, Karin, Venat-Bouvet, Laurence, Stoppa-Lyonnet, Dominique, Chenevix-Trench, Georgia, Easton, Douglas F., Klein, Robert J., Daly, Mark J., Friedman, Eitan, Dean, Michael, Clark, Andrew G., Altshuler, David M., Antoniou, Antonis C., Couch, Fergus J., Offit, Kenneth, Gold, Bert, HEBON, kConFab, Ontario Cancer Genetics Network, SWE-BRCA, UKFOCR, and EMBRACE
- Published
- 2011
- Full Text
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18. Biological validation of increased schizophrenia risk with NRG1, ERBB4, and AKT1 epistasis via functional neuroimaging in healthy controls
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Nicodemus, Kristin K., Law, Amanda J., Radulescu, Eugenia, Luna, Augustin, Kolachana, Bhaskar, Vakkalanka, Radhakrishna, Rujescu, Dan, Giegling, Ina, Straub, Richard E., McGee, Kate, Gold, Bert, Dean, Michael, Muglia, Pierandrea, Callicott, Joseph H., Tan, Hao-Yang, and Weinberger, Daniel R.
- Subjects
Schizophrenia -- Risk factors ,Schizophrenia -- Genetic aspects ,Schizophrenia -- Research ,Genetic epistasis -- Research ,Neuroimaging -- Usage ,Neuroimaging -- Research ,Health ,Psychology and mental health - Published
- 2010
19. Strong association of fascin expression with triple negative breast cancer and basal-like phenotype in African-American women
- Author
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Esnakula, Ashwini K, Ricks-Santi, Luisel, Kwagyan, John, Kanaan, Yasmine M, DeWitty, Robert L, Wilson, Lori L, Gold, Bert, Frederick, Wayne A I, and Naab, Tammey J
- Published
- 2014
- Full Text
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20. Bayesian Risk Assessment in Genetic Testing for Autosomal Dominant Disorders with Age-Dependent Penetrance
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Ogino, Shuji, Wilson, Robert B., Gold, Bert, and Flodman, Pamela
- Published
- 2007
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21. Risk for HIV-1 infection associated with a common CXCL 12 (SDF1) polymorphism and CXCR4 variation in an African population
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Petersen, Desiree C., Glashoff, Richard H., Shrestha, Sadeep, Bergeron, Julie, Laten, Annette, Gold, Bert, van Rensburg, Estrelita Janse, Dean, Michael, and Hayes, Vanessa M.
- Subjects
Genetic polymorphisms -- Research ,Gene mutations -- Research ,Africans -- Genetic aspects ,Genetic research ,Health - Abstract
A study was conducted on African people to analyze the stromal cell derived factor 1 (SDF1)-3'A single nucleotide polymorphism (SNP) and performed mutation screening for polymorphic markers in the chemokine receptor 4 (CXCR4) gene to determine existence of significant associations with susceptibility to HIV-1 infection. Comprehensive mutation analysis of the CXCR4 gene confirmed a high degree of genetic conservation within the coding region of African ancient populations.
- Published
- 2005
22. Somatic Alterations Contributing to Metastasis of a Castration-Resistant Prostate Cancer
- Author
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Nickerson, Michael L., Im, Kate M., Misner, Kevin J., Tan, Wei, Lou, Hong, Gold, Bert, Wells, David W., Bravo, Hector C., Fredrikson, Karin M., Harkins, Timothy T., Milos, Patrice, Zbar, Berton, Linehan, Marston W., Yeager, Meredith, Andresson, Thorkell, Dean, Michael, and Bova, Steven G.
- Published
- 2013
- Full Text
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23. Two Rare Confounding Polymorphisms Proximal to the Factor V Leiden Mutation
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Gold, Bert, Hanson, Matthew, and Dean, Michael
- Published
- 2001
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24. Contributors
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Ahmed, Farid E., primary, Andersen, Claus L., additional, Ansorge, Wilhelm J., additional, Athanassiadou, Aglaia, additional, Baralle, Francisco E., additional, Barnett, Matthew P.G., additional, Bavari, Sina, additional, Belkum, Alex van, additional, Bell, Walter, additional, Benavides, Fernando, additional, Birkenkamp-Demtroder, Karin, additional, Blakesley, Lauryn, additional, Bosserhoff, Anja Katrin, additional, Budowle, Bruce, additional, Bui, Chinh Thien, additional, Burnett, David, additional, Campbell, Rowan S., additional, Caulfield, Timothy, additional, Chiotis, Maria, additional, Conze, Tim, additional, Corach, Daniel, additional, Cotton, Richard G.H., additional, Dalsgaard-Sørensen, Karina, additional, Delaney, Carol A., additional, Rycke, Martine de, additional, den Dunnen, Johan T., additional, Dyrskjøt, Lars, additional, Eisenberg, Arthur J., additional, Faca, Vitor, additional, Farrar, Jared S., additional, Ferguson, Lynnette R., additional, Fortina, Paolo, additional, Fredenburgh, Jerry, additional, Fruehauf, Stefan, additional, Giulietti, Anna-Paula, additional, Godwin, Andrew K., additional, Gold, Bert, additional, Göransson, Jenny, additional, Grizzle, William E., additional, Grodzinski, Piotr, additional, Grundberg, Ida, additional, Guénet, Jean-Louis, additional, Gut, Ivo G., additional, Hanash, Samir, additional, Hellerbrand, Claus, additional, Henriksson, Sara, additional, Innocenti, Federico, additional, Isaksson, Magnus, additional, Jarvius, Malin, additional, Jensen, Jens L., additional, Joly, Yann, additional, Kamali-Moghaddam, Masood, additional, Kehn-Hall, Kylene, additional, Köcher, Thomas, additional, Krjutskov, Kaarel, additional, Kruhøffer, Mogens, additional, Kurg, Ants, additional, Lambrinakos, Andreana, additional, Landegren, Ulf, additional, Larsson, Chatarina, additional, Laufs, Stephanie, additional, Leego, Merike, additional, Leuchowius, Karl-Johan, additional, Lind, Ilona, additional, Liu, Robin, additional, Maier, Patrick W., additional, Marsh, Sharon, additional, Mathieu, Chantal, additional, Menounos, Panayiotis G., additional, Metspalu, Andres, additional, Nicolas, Emmanuelle, additional, Nilsson, Mats, additional, Oitmaa, Eneli, additional, Ørntoft, Torben F., additional, Overbergh, Lut, additional, Pagani, Franco, additional, Papachatzopoulou, Adamandia, additional, Pardali, Katerina, additional, Patenaude, Andrea Farkas, additional, Patrinos, George P., additional, Perera, Minoli, additional, Peters, Hartmut, additional, Petrou, Mary, additional, Philpott, Martin, additional, Planz, John V., additional, Pullat, Janne, additional, Qiu, Ji, additional, Reed, Gudrun H., additional, Rees, Kylee, additional, Robinson, Peter N., additional, Sallmann, Georgina, additional, Schouten, Jan P., additional, Schubert, Luisa, additional, Scott, Kathryn E., additional, Sepers, Eline M., additional, Sermon, Karen, additional, Söderberg, Ola, additional, Stampe-Ostenfeld, Marie, additional, Stavrou, Eleana, additional, Stenberg, Johan, additional, Superti-Furga, Giulio, additional, Surrey, Saul, additional, Taylor, Graham. R., additional, Thorsen, Kasper, additional, Tonisson, Neeme, additional, Tönnies, Holger, additional, Tost, Jörg, additional, Trounce, Ian, additional, Valckx, Dirk, additional, Ward, Michael, additional, Weibrecht, Irene, additional, Wittwer, Carl T., additional, Yeung, Anthony T., additional, and Jens Zeller, W., additional
- Published
- 2010
- Full Text
- View/download PDF
25. Automated DNA Hybridization and Detection
- Author
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Gold, Bert, primary
- Published
- 2010
- Full Text
- View/download PDF
26. Diagnosis of Fragile X Syndrome by Southern Blot Hybridization Using a Chemiluminescent Probe: A Laboratory Protocol
- Author
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Gold, Bert, Radu, Daniela, Balanko, Alla, and Chiang, Chih-Sheng
- Published
- 2000
- Full Text
- View/download PDF
27. Reversed Line Blot Hybridization
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Gold, Bert, primary
- Published
- 2004
- Full Text
- View/download PDF
28. Long homopurine•homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region
- Author
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Bacolla, Albino, Collins, Jack R., Gold, Bert, Chuzhanova, Nadia, Yi, Ming, Stephens, Robert M., Stefanov, Stefan, Olsh, Adam, Jakupciak, John P., Dean, Michael, Lempicki, Richard A., Cooper, David N., and Wells, Robert D.
- Published
- 2006
29. DNA genotyping
- Author
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Gold, Bert, primary
- Published
- 2001
- Full Text
- View/download PDF
30. MC1R, ASIP, and DNA Repair in Sporadic and Familial Melanoma in a Mediterranean Population
- Author
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Landi, Maria Teresa, Kanetsky, Peter A., Tsang, Shirley, Gold, Bert, Munroe, David, Rebbeck, Timothy, Swoyer, Jennifer, Ter-Minassian, Monica, Hedayati, Mohammad, Grossman, Lawrence, Goldstein, Alisa M., Calista, Donato, and Pfeiffer, Ruth M.
- Published
- 2005
31. Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping
- Author
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Ellis Nathan A, Norton Larry, Friedman Eitan, Klein Robert J, Lautenberger James A, Kirchhoff Tomas, Eskin Eleazar, Stefanov Stefan A, Satagopan Jaya, Struewing Jeffery P, Lohmueller Kirk E, Gold Bert, Olshen Adam B, Viale Agnes, Lee Catherine S, Borgen Patrick I, Clark Andrew G, Offit Kenneth, and Boyd Jeff
- Subjects
Genetics ,QH426-470 - Abstract
Abstract Background Genetic isolates such as the Ashkenazi Jews (AJ) potentially offer advantages in mapping novel loci in whole genome disease association studies. To analyze patterns of genetic variation in AJ, genotypes of 101 healthy individuals were determined using the Affymetrix EAv3 500 K SNP array and compared to 60 CEPH-derived HapMap (CEU) individuals. 435,632 SNPs overlapped and met annotation criteria in the two groups. Results A small but significant global difference in allele frequencies between AJ and CEU was demonstrated by a mean FST of 0.009 (P < 0.001); large regions that differed were found on chromosomes 2 and 6. Haplotype blocks inferred from pairwise linkage disequilibrium (LD) statistics (Haploview) as well as by expectation-maximization haplotype phase inference (HAP) showed a greater number of haplotype blocks in AJ compared to CEU by Haploview (50,397 vs. 44,169) or by HAP (59,269 vs. 54,457). Average haplotype blocks were smaller in AJ compared to CEU (e.g., 36.8 kb vs. 40.5 kb HAP). Analysis of global patterns of local LD decay for closely-spaced SNPs in CEU demonstrated more LD, while for SNPs further apart, LD was slightly greater in the AJ. A likelihood ratio approach showed that runs of homozygous SNPs were approximately 20% longer in AJ. A principal components analysis was sufficient to completely resolve the CEU from the AJ. Conclusion LD in the AJ versus was lower than expected by some measures and higher by others. Any putative advantage in whole genome association mapping using the AJ population will be highly dependent on regional LD structure.
- Published
- 2008
- Full Text
- View/download PDF
32. Robot Printing of Reverse Dot Blot Arrays for Human Mutation Detection
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Lappin, Stephen, Cahlik, Jeff, and Gold, Bert
- Published
- 2001
- Full Text
- View/download PDF
33. Book Review
- Author
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Gold, Bert
- Published
- 2001
- Full Text
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34. The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function
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Egan, Michael F., Kojima, Masami, Callicott, Joseph H., Goldberg, Terry E., Kolachana, Bhaskar S., Bertolino, Alessandro, Zaitsev, Eugene, Gold, Bert, Goldman, David, Dean, Michael, Lu, Bai, and Weinberger, Daniel R.
- Subjects
Cell research -- Analysis ,Secretion -- Genetic aspects ,Secretion -- Physiological aspects ,Hippocampus (Brain) -- Genetic aspects ,Hippocampus (Brain) -- Physiological aspects ,Neurons -- Physiological aspects ,Methionine -- Physiological aspects ,Proteins -- Physiological aspects ,Brain-derived neurotrophic factor -- Research ,Biological sciences - Abstract
Research has been conducted on brain-derived neurotrophic factor. The role of valine to methionine substitution in the 5' pro-region of the human brain-derived neurotrophic factor proteins has been investigated, and the results are described.
- Published
- 2003
35. Do Circulating Tumor Cells, Exosomes, and Circulating Tumor Nucleic Acids Have Clinical Utility? A Report of the Association for Molecular Pathology
- Author
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Gold, Bert, Cankovic, Milena, Furtado, Larissa V., Meier, Frederick, and Gocke, Christopher D.
- Abstract
Diagnosing and screening for tumors through non-invasive means represents an important paradigm shift in precision medicine. In contrast to tissue biopsy, detection of circulating tumor cells and circulating tumor nucleic acids provides a minimally invasive method for predictive and prognostic marker detection. This allows early and serial assessment of metastatic disease including follow up during remission, characterization of treatment effects, and clonal evolution. Isolation and characterization of circulating tumor cells and circulating tumor DNA are likely to improve cancer diagnosis, treatment, and minimal residual disease monitoring. However, more trials are required to validate the clinical utility of precise molecular markers for a variety of tumor types. This review focuses on the clinical utility of circulating tumor cells and circulating tumor DNA testing in patients with solid tumors, including somatic and epigenetic alterations that can be detected. A comparison of methods used to isolate and detect circulating tumor cells and some of the intricacies of the characterization of the circulating tumor DNA will also be provided.
- Published
- 2024
- Full Text
- View/download PDF
36. Erratum to: Genotype distribution-based inference of collective effects in genome-wide association studies: insights to age-related macular degeneration disease mechanism
- Author
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Woo, Hyung Jun, primary, Yu, Chenggang, additional, Kumar, Kamal, additional, Gold, Bert, additional, and Reifman, Jaques, additional
- Published
- 2016
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37. Genotype distribution-based inference of collective effects in genome-wide association studies: insights to age-related macular degeneration disease mechanism
- Author
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Woo, Hyung Jun, primary, Yu, Chenggang, additional, Kumar, Kamal, additional, Gold, Bert, additional, and Reifman, Jaques, additional
- Published
- 2016
- Full Text
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38. Genome Analysis of Latin American Cervical Cancer: Frequent Activation of the PIK3CA Pathway
- Author
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Lou, Hong, primary, Villagran, Guillermo, additional, Boland, Joseph F., additional, Im, Kate M., additional, Polo, Sarita, additional, Zhou, Weiyin, additional, Odey, Ushie, additional, Juárez-Torres, Eligia, additional, Medina-Martínez, Ingrid, additional, Roman-Basaure, Edgar, additional, Mitchell, Jason, additional, Roberson, David, additional, Sawitzke, Julie, additional, Garland, Lisa, additional, Rodríguez-Herrera, Maria, additional, Wells, David, additional, Troyer, Jennifer, additional, Pinto, Francisco Castillo, additional, Bass, Sara, additional, Zhang, Xijun, additional, Castillo, Miriam, additional, Gold, Bert, additional, Morales, Hesler, additional, Yeager, Meredith, additional, Berumen, Jaime, additional, Alvirez, Enrique, additional, Gharzouzi, Eduardo, additional, and Dean, Michael, additional
- Published
- 2015
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39. Do Circulating Tumor Cells, Exosomes, and Circulating Tumor Nucleic Acids Have Clinical Utility?
- Author
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Gold, Bert, primary, Cankovic, Milena, additional, Furtado, Larissa V., additional, Meier, Frederick, additional, and Gocke, Christopher D., additional
- Published
- 2015
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40. Mo1704 Intra-Luminal Interleukin (IL)-27 Attenuates Acute Murine 2,4,6-Trinitrobenzene Sulfonic Acid (TNBS) Colitis and Is Associated With Down-Regulation of Mucosal Humoral Response
- Author
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McLean, Mairi H., primary, Gold, Bert, additional, Golubeva, Yelena, additional, Wu, Xiaolin, additional, Sun, David, additional, Anver, Miriam R., additional, Hanson, Miranda L., additional, Steidler, Lothar, additional, and Durum, Scott K., additional
- Published
- 2014
- Full Text
- View/download PDF
41. Breast cancer risk and 6q22.33 : combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2
- Author
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Kirchhoff, Tomas, Gaudet, Mia M, Antoniou, Antonis C, McGuffog, Lesley, Humphreys, Manjeet K, Dunning, Alison M, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schürmann, Peter, Karstens, Johann H, Hillemanns, Peter, Couch, Fergus J, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm W R, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, Schmidt, Marjanka K, Van 't Veer, Laura J, Braaf, Linde M, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, Southey, Melissa C, Hopper, John L, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, Andrulis, Irene L, Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Juri I, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, van Asperen, Christi J, Tollenaar, Robert A E M, Hooning, Maartje J, Devilee, Peter, Margolin, Sara, Lindblom, Annika, Milne, Roger L, Arias, José Ignacio, Zamora, M Pilar, Benítez, Javier, Severi, Gianluca, Baglietto, Laura, Giles, Graham G, Spurdle, Amanda B, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, Agnarsson, Bjarni A, Caligo, Maria A, Godwin, Andrew K, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, Nathanson, Katherine L, Domchek, Susan M, Loman, Niklas, Karlsson, Per, Stenmark Askmalm, Marie, Melin, Beatrice, von Wachenfeldt, Anna, Hogervorst, Frans B L, Verheus, Martijn, Rookus, Matti A, Seynaeve, Caroline, Oldenburg, Rogier A, Ligtenberg, Marjolijn J, Ausems, Margreet G E M, Aalfs, Cora M, Gille, Hans J P, Wijnen, Juul T, Gómez García, Encarna B, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Luccarini, Craig, Pichert, Gabriella, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Evans, D Gareth, Eeles, Rosalind, Gold, Bert, Pharoah, Paul D P, Offit, Kenneth, Chenevix-Trench, Georgia, Easton, Douglas F, Kirchhoff, Tomas, Gaudet, Mia M, Antoniou, Antonis C, McGuffog, Lesley, Humphreys, Manjeet K, Dunning, Alison M, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schürmann, Peter, Karstens, Johann H, Hillemanns, Peter, Couch, Fergus J, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm W R, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, Schmidt, Marjanka K, Van 't Veer, Laura J, Braaf, Linde M, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, Southey, Melissa C, Hopper, John L, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, Andrulis, Irene L, Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Juri I, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, van Asperen, Christi J, Tollenaar, Robert A E M, Hooning, Maartje J, Devilee, Peter, Margolin, Sara, Lindblom, Annika, Milne, Roger L, Arias, José Ignacio, Zamora, M Pilar, Benítez, Javier, Severi, Gianluca, Baglietto, Laura, Giles, Graham G, Spurdle, Amanda B, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, Agnarsson, Bjarni A, Caligo, Maria A, Godwin, Andrew K, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, Nathanson, Katherine L, Domchek, Susan M, Loman, Niklas, Karlsson, Per, Stenmark Askmalm, Marie, Melin, Beatrice, von Wachenfeldt, Anna, Hogervorst, Frans B L, Verheus, Martijn, Rookus, Matti A, Seynaeve, Caroline, Oldenburg, Rogier A, Ligtenberg, Marjolijn J, Ausems, Margreet G E M, Aalfs, Cora M, Gille, Hans J P, Wijnen, Juul T, Gómez García, Encarna B, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Luccarini, Craig, Pichert, Gabriella, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Evans, D Gareth, Eeles, Rosalind, Gold, Bert, Pharoah, Paul D P, Offit, Kenneth, Chenevix-Trench, Georgia, and Easton, Douglas F
- Abstract
Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95%CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
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- 2012
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42. UBIAD1 Mutation Alters a Mitochondrial Prenyltransferase to Cause Schnyder Corneal Dystrophy
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University of Helsinki, Silmäklinikka, Nickerson, Michael L., Kostiha, Brittany N., Brandt, Wolfgang, Fredericks, William, Xu, Ke-Ping, Yu, Fu-Shin, Gold, Bert, Chodosh, James, Goldberg, Marc, Lu, Da Wen, Yamada, Masakazu, Tervo, Timo M., Grutzmacher, Richard, Croasdale, Chris, Hoeltzenbein, Maria, Sutphin, John, Malkowicz, S. Bruce, Wessjohann, Ludger, Kruth, Howard S., Dean, Michael, Weiss, Jayne S., University of Helsinki, Silmäklinikka, Nickerson, Michael L., Kostiha, Brittany N., Brandt, Wolfgang, Fredericks, William, Xu, Ke-Ping, Yu, Fu-Shin, Gold, Bert, Chodosh, James, Goldberg, Marc, Lu, Da Wen, Yamada, Masakazu, Tervo, Timo M., Grutzmacher, Richard, Croasdale, Chris, Hoeltzenbein, Maria, Sutphin, John, Malkowicz, S. Bruce, Wessjohann, Ludger, Kruth, Howard S., Dean, Michael, and Weiss, Jayne S.
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- 2010
43. Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
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University of Helsinki, Department of Obstetrics and Gynecology, University of Helsinki, Research Program in Genome-Scale Biology, Gaudet, Mia M., Kirchhoff, Tomas, Green, Todd, Vijai, Joseph, Korn, Joshua M., Guiducci, Candace, Segre, Ayellet V., McGee, Kate, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Gauthier-Villars, Marion, Sobol, Hagay, Longy, Michel, Frenay, Marc, Hogervorst, Frans B. L., Rookus, Matti A., Collee, J. Margriet, Hoogerbrugge, Nicoline, van Roozendaal, Kees E. P., Piedmonte, Marion, Rubinstein, Wendy, Nerenstone, Stacy, Van Le, Linda, Blank, Stephanie V., Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Arason, Adalgeir, Johannsson, Oskar T., Barkardottir, Rosa B., Devilee, Peter, Olopade, Olofunmilayo I., Neuhausen, Susan L., Wang, Xianshu, Fredericksen, Zachary S., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Viel, Alessandra, Radice, Paolo, Phelan, Catherine M., Narod, Steven, Rennert, Gad, Lejbkowicz, Flavio, Flugelman, Anath, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Toland, Amanda E., Montagna, Marco, D'Andrea, Emma, Friedman, Eitan, Laitman, Yael, Borg, Ake, Beattie, Mary, Ramus, Susan J., Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Tim, Spurdle, Amanda B., Chen, Xiaoqing, Holland, Helene, John, Esther M., Hopper, John L., Buys, Saundra S., Daly, Mary B., Southey, Melissa C., Terry, Mary Beth, Tung, Nadine, Hansen, Thomas V. Overeem, Nielsen, Finn C., Greene, Mark I., Mai, Phuong L., Osorio, Ana, Duran, Mercedes, Andres, Raquel, Benitez, Javier, Weitzel, Jeffrey N., Garber, Judy, Hamann, Ute, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Walker, Lisa, Eason, Jacqueline, Barwell, Julian, Godwin, Andrew K., Schmutzler, Rita K., Wappenschmidt, Barbara, Engert, Stefanie, Arnold, Norbert, Gadzicki, Dorothea, Dean, Michael, Gold, Bert, Klein, Robert J., Couch, Fergus J., Chenevix-Trench, Georgia, Easton, Douglas F., Daly, Mark J., Antoniou, Antonis C., Altshuler, David M., Offit, Kenneth, kConFab, OCGN, HEBON Study Collaborators, GEMO Study Collaborators, University of Helsinki, Department of Obstetrics and Gynecology, University of Helsinki, Research Program in Genome-Scale Biology, Gaudet, Mia M., Kirchhoff, Tomas, Green, Todd, Vijai, Joseph, Korn, Joshua M., Guiducci, Candace, Segre, Ayellet V., McGee, Kate, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Gauthier-Villars, Marion, Sobol, Hagay, Longy, Michel, Frenay, Marc, Hogervorst, Frans B. L., Rookus, Matti A., Collee, J. Margriet, Hoogerbrugge, Nicoline, van Roozendaal, Kees E. P., Piedmonte, Marion, Rubinstein, Wendy, Nerenstone, Stacy, Van Le, Linda, Blank, Stephanie V., Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Arason, Adalgeir, Johannsson, Oskar T., Barkardottir, Rosa B., Devilee, Peter, Olopade, Olofunmilayo I., Neuhausen, Susan L., Wang, Xianshu, Fredericksen, Zachary S., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Viel, Alessandra, Radice, Paolo, Phelan, Catherine M., Narod, Steven, Rennert, Gad, Lejbkowicz, Flavio, Flugelman, Anath, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Toland, Amanda E., Montagna, Marco, D'Andrea, Emma, Friedman, Eitan, Laitman, Yael, Borg, Ake, Beattie, Mary, Ramus, Susan J., Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Tim, Spurdle, Amanda B., Chen, Xiaoqing, Holland, Helene, John, Esther M., Hopper, John L., Buys, Saundra S., Daly, Mary B., Southey, Melissa C., Terry, Mary Beth, Tung, Nadine, Hansen, Thomas V. Overeem, Nielsen, Finn C., Greene, Mark I., Mai, Phuong L., Osorio, Ana, Duran, Mercedes, Andres, Raquel, Benitez, Javier, Weitzel, Jeffrey N., Garber, Judy, Hamann, Ute, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Walker, Lisa, Eason, Jacqueline, Barwell, Julian, Godwin, Andrew K., Schmutzler, Rita K., Wappenschmidt, Barbara, Engert, Stefanie, Arnold, Norbert, Gadzicki, Dorothea, Dean, Michael, Gold, Bert, Klein, Robert J., Couch, Fergus J., Chenevix-Trench, Georgia, Easton, Douglas F., Daly, Mark J., Antoniou, Antonis C., Altshuler, David M., Offit, Kenneth, and kConFab, OCGN, HEBON Study Collaborators, GEMO Study Collaborators
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- 2010
44. Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
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Gaudet, Mia M., Kirchhoff, Tomas, Green, Todd, Vijai, Joseph, Korn, Joshua M., Guiducci, Candace, Segre, Ayellet V., McGee, Kate, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Gauthier-Villars, Marion, Sobol, Hagay, Longy, Michel, Frenay, Marc, Hogervorst, Frans B. L., Rookus, Matti A., Collee, J. Margriet, Hoogerbrugge, Nicoline, van Roozendaal, Kees E. P., Piedmonte, Marion, Rubinstein, Wendy, Nerenstone, Stacy, Van Le, Linda, Blank, Stephanie V., Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomaki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Arason, Adalgeir, Johannsson, Oskar T., Barkardottir, Rosa B., Devilee, Peter, Olopade, Olofunmilayo I., Neuhausen, Susan L., Wang, Xianshu, Fredericksen, Zachary S., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Viel, Alessandra, Radice, Paolo, Phelan, Catherine M., Narod, Steven, Rennert, Gad, Lejbkowicz, Flavio, Flugelman, Anath, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Toland, Amanda E., Montagna, Marco, D'Andrea, Emma, Friedman, Eitan, Laitman, Yael, Borg, Ake, Beattie, Mary, Ramus, Susan J., Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Tim, Spurdle, Amanda B., Chen, Xiaoqing, Holland, Helene, John, Esther M., Hopper, John L., Buys, Saundra S., Daly, Mary B., Southey, Melissa C., Terry, Mary Beth, Tung, Nadine, Hansen, Thomas V. Overeem, Nielsen, Finn C., Greene, Mark I., Mai, Phuong L., Osorio, Ana, Duran, Mercedes, Andres, Raquel, Benitez, Javier, Weitzel, Jeffrey N., Garber, Judy, Hamann, Ute, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Walker, Lisa, Eason, Jacqueline, Barwell, Julian, Godwin, Andrew K., Schmutzler, Rita K., Wappenschmidt, Barbara, Engert, Stefanie, Arnold, Norbert, Gadzicki, Dorothea, Dean, Michael, Gold, Bert, Klein, Robert J., Couch, Fergus J., Chenevix-Trench, Georgia, Easton, Douglas F., Daly, Mark J., Antoniou, Antonis C., Altshuler, David M., Offit, Kenneth, Gaudet, Mia M., Kirchhoff, Tomas, Green, Todd, Vijai, Joseph, Korn, Joshua M., Guiducci, Candace, Segre, Ayellet V., McGee, Kate, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Gauthier-Villars, Marion, Sobol, Hagay, Longy, Michel, Frenay, Marc, Hogervorst, Frans B. L., Rookus, Matti A., Collee, J. Margriet, Hoogerbrugge, Nicoline, van Roozendaal, Kees E. P., Piedmonte, Marion, Rubinstein, Wendy, Nerenstone, Stacy, Van Le, Linda, Blank, Stephanie V., Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomaki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Arason, Adalgeir, Johannsson, Oskar T., Barkardottir, Rosa B., Devilee, Peter, Olopade, Olofunmilayo I., Neuhausen, Susan L., Wang, Xianshu, Fredericksen, Zachary S., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Viel, Alessandra, Radice, Paolo, Phelan, Catherine M., Narod, Steven, Rennert, Gad, Lejbkowicz, Flavio, Flugelman, Anath, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Toland, Amanda E., Montagna, Marco, D'Andrea, Emma, Friedman, Eitan, Laitman, Yael, Borg, Ake, Beattie, Mary, Ramus, Susan J., Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Tim, Spurdle, Amanda B., Chen, Xiaoqing, Holland, Helene, John, Esther M., Hopper, John L., Buys, Saundra S., Daly, Mary B., Southey, Melissa C., Terry, Mary Beth, Tung, Nadine, Hansen, Thomas V. Overeem, Nielsen, Finn C., Greene, Mark I., Mai, Phuong L., Osorio, Ana, Duran, Mercedes, Andres, Raquel, Benitez, Javier, Weitzel, Jeffrey N., Garber, Judy, Hamann, Ute, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Walker, Lisa, Eason, Jacqueline, Barwell, Julian, Godwin, Andrew K., Schmutzler, Rita K., Wappenschmidt, Barbara, Engert, Stefanie, Arnold, Norbert, Gadzicki, Dorothea, Dean, Michael, Gold, Bert, Klein, Robert J., Couch, Fergus J., Chenevix-Trench, Georgia, Easton, Douglas F., Daly, Mark J., Antoniou, Antonis C., Altshuler, David M., and Offit, Kenneth
- Abstract
The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage 1 using the Affymetrix 6.0 platform, 592,163 filtered SNPs genotyped were available on 899 young (, 40 years) affected and 804 unaffected carriers of European ancestry. Associations were evaluated using a survival-based score test adjusted for familial correlations and stratified by country of the study and BRCA2*6174delT mutation status. The genomic inflation factor (lambda) was 1.011. The stage 1 association analysis revealed multiple variants associated with breast cancer risk: 3 SNPs had p-values, 10 25 and 39 SNPs had p-values<10(-4). These variants included several previously associated with sporadic breast cancer risk and two novel loci on chromosome 20 (rs311499) and chromosome 10 (rs16917302). The chromosome 10 locus was in ZNF365, which contains another variant that has recently been associated with breast cancer in an independent study of unselected cases. In stage 2, the top 85 loci from stage 1 were genotyped in 1,264 cases and 1,222 controls. Hazard ratios (HR) and 95% confidence intervals (CI) for stage 1 and 2 were combined and estimated using a retrospective likelihood approach, stratified by country of residence and the most common mutation, BRCA2*6174delT. The combined per allele HR of the minor allele for the novel loci rs16917302 was 0.75 (95% CI 0.66-0.86, p = 3: 8 x 10(-5)) and for rs311499 was 0.72 (95% CI 0.61-0.85, p = 6: 6 x 10(-5)). FGFR2 rs2981575 had the strongest association with breast cancer risk (per allele HR = 1.28, 95% CI 1.18-1.39, p = 1: 2 x 10(-8)). These results indicate that SNPs that modify BRCA2 penetrance identified by an agnostic approach thus far are limited to variants that also modify risk of sporadic BRCA2 wild
- Published
- 2010
45. Strong association of fascin expression with triple negative breast cancer and basal-like phenotype in African-American women
- Author
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Esnakula, Ashwini K, primary, Ricks-Santi, Luisel, additional, Kwagyan, John, additional, Kanaan, Yasmine M, additional, DeWitty, Robert L, additional, Wilson, Lori L, additional, Gold, Bert, additional, Frederick, Wayne A I, additional, and Naab, Tammey J, additional
- Published
- 2013
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46. Abstract 1333: Specific RB1 mutations and risk of subsequent neoplasms among survivors of hereditary retinoblastoma.
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Morton, Lindsay M., primary, Wong, Jeannette R., additional, Gallie, Brenda L., additional, Abramson, David H., additional, Seddon, Johanna M., additional, Dean, Michael, additional, Gold, Bert, additional, Goldstein, Alisa M., additional, Kleinerman, Ruth A., additional, and Tucker, Margaret A., additional
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- 2013
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47. Genotype distribution-based inference of collective effects in genome-wide association studies: insights to age-related macular degeneration disease mechanism.
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Hyung Jun Woo, Chenggang Yu, Kumar, Kamal, Gold, Bert, and Reifman, Jaques
- Subjects
SINGLE nucleotide polymorphisms ,GENOTYPES ,RETINAL degeneration ,DISCRIMINANT analysis ,MACHINE learning - Abstract
Background: Genome-wide association studies provide important insights to the genetic component of disease risks. However, an existing challenge is how to incorporate collective effects of interactions beyond the level of independent single nucleotide polymorphism (SNP) tests. While methods considering each SNP pair separately have provided insights, a large portion of expected heritability may reside in higher-order interaction effects. Results: We describe an inference approach (discrete discriminant analysis; DDA) designed to probe collective interactions while treating both genotypes and phenotypes as random variables. The genotype distributions in case and control groups are modeled separately based on empirical allele frequency and covariance data, whose differences yield disease risk parameters. We compared pairwise tests and collective inference methods, the latter based both on DDA and logistic regression. Analyses using simulated data demonstrated that significantly higher sensitivity and specificity can be achieved with collective inference in comparison to pairwise tests, and with DDA in comparison to logistic regression. Using age-related macular degeneration (AMD) data, we demonstrated two possible applications of DDA. In the first application, a genome-wide SNP set is reduced into a small number (~ 100) of variants via filtering and SNP pairs with significant interactions are identified. We found that interactions between SNPs with highest AMD association were epigenetically active in the liver, adipocytes, and mesenchymal stem cells. In the other application, multiple groups of SNPs were formed from the genome-wide data and their relative strengths of association were compared using cross-validation. This analysis allowed us to discover novel collections of loci for which interactions between SNPs play significant roles in their disease association. In particular, we considered pathway-based groups of SNPs containing up to ~ 10,000 variants in each group. In addition to pathways related to complement activation, our collective inference pointed to pathway groups involved in phospholipid synthesis, oxidative stress, and apoptosis, consistent with the AMD pathogenesis mechanism where the dysfunction of retinal pigment epithelium cells plays central roles. Conclusions: The simultaneous inference of collective interaction effects within a set of SNPs has the potential to reveal novel aspects of disease association. [ABSTRACT FROM AUTHOR]
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- 2016
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48. The genome of the sea urchin Strongylocentrotus purpuratus
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Sodergren, Erica, Weinstock, George M., Davidson, Eric H., Cameron, R. Andrew, Gibbs, Richard A., Angerer, Robert C., Angerer, Lynne M., Arnone, Maria Ina, Burgess, David R., Burke, Robert D., Coffman, James A., Dean, Michael, Elphick, Maurice R., Ettensohn, Charles A., Foltz, Kathy R., Hamdoun, Amro, Hynes, Richard O., Klein, William H., Marzluff, William, McClay, David R., Morris, Robert L., Mushegian, Arcady, Rast, Jonathan P., Smith, L. Courtney, Thorndyke, Michael C., Vacquier, Victor D., Wessel, Gary M., Wray, Greg, Zhang, Lan, Elsik, Christine G., Ermolaeva, Olga, Hlavina, Wratko, Hofmann, Gretchen, Kitts, Paul, Landrum, Melissa J., Mackey, Aaron J., Maglott, Donna, Panopoulou, Georgia, Poustka, Albert J., Pruitt, Kim, Sapojnikov, Victor, Song, Xingzhi, Souvorov, Alexandre, Solovyev, Victor, Wei, Zheng, Whittaker, Charles A., Worley, Kim, Durbin, K. James, Shen, Yufeng, Fedrigo, Olivier, Garfield, David, Haygood, Ralph, Primus, Alexander, Satija, Rahul, Severson, Tonya, Gonzalez-Garay, Manuel L., Jackson, Andrew R., Milosavljevic, Aleksandar, Tong, Mark, Killian, Christopher E., Livingston, Brian T., Wilt, Fred H., Adams, Nikki, Belle, Robert, Carbonneau, Seth, Cheung, Rocky, Cormier, Patrick, Cosson, Bertrand, Croce, Jenifer, Fernandez-Guerra, Antonio, Geneviere, Anne-Marie, Goel, Manisha, Kelkar, Hemant, Morales, Julia, Mulner-Lorillon, Odile, Robertson, Anthony J., Goldstone, Jared V., Cole, Bryan, Epel, David, Gold, Bert, Hahn, Mark E., Howard-Ashby, Meredith, Scally, Mark, Stegeman, John J., Allgood, Erin L., Cool, Jonah, Judkins, Kyle M., McCafferty, Shawn S., Musante, Ashlan M., Obar, Robert A., Rawson, Amanda P., Rossetti, Blair J., Gibbons, Ian R., Hoffman, Matthew P., Leone, Andrew, Istrail, Sorin, Materna, Stefan C., Samanta, Manoj P., Stolc, Viktor, Tongprasit, Waraporn, Tu, Qiang, Bergeron, Karl-Frederik, Brandhorst, Bruce P., Whittle, James, Berney, Kevin, Bottjer, David J., Calestani, Cristina, Peterson, Kevin, Chow, Elly, Yuan, Qiu Autumn, Elhaik, Eran, Graur, Dan, Reese, Justin T., Bosdet, Ian, Heesun, Shin, Marra, Marco A., Schein, Jacqueline, Anderson, Michele K., Brockton, Virginia, Buckley, Katherine M., Cohen, Avis H., Fugmann, Sebastian D., Hibino, Taku, Loza-Coll, Mariano, Majeske, Audrey J., Messier, Cynthia, Nair, Sham V., Pancer, Zeev, Terwilliger, David P., Agca, Cavit, Arboleda, Enrique, Chen, Nansheng, Churcher, Allison M., Hallböök, Finn, Humphrey, Glen W., Idris, Mohammed M., Kiyama, Takae, Liang, Shuguang, Mellott, Dan, Mu, Xiuqian, Murray, Greg, Olinski, Robert P., Raible, Florian, Rowe, Matthew, Taylor, John S., Tessmar-Raible, Kristin, Wang, D., Wilson, Karen H., Yaguchi, Shunsuke, Gaasterland, Terry, Galindo, Blanca E., Gunaratne, Herath J., Juliano, Celina, Kinukawa, Masashi, Moy, Gary W., Neill, Anna T., Nomura, Mamoru, Raisch, Michael, Reade, Anna, Roux, Michelle M., Song, Jia L., Su, Yi-Hsien, Townley, Ian K., Voronina, Ekaterina, Wong, Julian L., Amore, Gabriele, Branno, Margherita, Brown, Euan R., Cavalieri, Vincenzo, Duboc, Veronique, Duloquin, Louise, Flytzanis, Constantin, Gache, Christian, Lapraz, Francois, Lepage, Thierry, Locascio, Annamaria, Martinez, Pedro, Matassi, Giorgio, Matranga, Valeria, Range, Ryan, Rizzo, Francesca, Roettinger, Eric, Wilson, Karen, Beane, Wendy, Bradham, Cynthia, Byrum, Christine, Glenn, Tom, Hussain, Sofia, Loza, Mariano, Manning, Gerard, Miranda, Esther, Thomason, Rebecca, Walton, Katherine, Wikramanayke, Athula, Whittaker, Charles, Wu, Shu-Yu, Xu, Ronghui, Brown, C. Titus, Chen, Lili, Gray, Rachel F., Lee, Pei Yun, Nam, Jongmin, Oliveri, Paola, Smith, Joel, Muzny, Donna, Bell, Stephanie, Chacko, Joseph, Cree, Andrew, Curry, Stacey, Davis, Clay, Dinh, Huyen, Dugan-Rocha, Shannon, Fowler, Jerry, Gill, Rachel, Hamilton, Cerrissa, Hernandez, Judith, Hines, Sandra, Hume, Jennifer, Jackson, LaRonda, Jolivet, Angela, Kovar, Christie, Lee, Sandra, Lewis, Lora, Miner, George, Morgan, Margaret, Nazareth, Lynne V., Okwuonu, Geoffrey, Parker, David, Pu, Ling-Ling, Thom, Rachel, Wright, Rita, Sodergren, Erica, Weinstock, George M., Davidson, Eric H., Cameron, R. Andrew, Gibbs, Richard A., Angerer, Robert C., Angerer, Lynne M., Arnone, Maria Ina, Burgess, David R., Burke, Robert D., Coffman, James A., Dean, Michael, Elphick, Maurice R., Ettensohn, Charles A., Foltz, Kathy R., Hamdoun, Amro, Hynes, Richard O., Klein, William H., Marzluff, William, McClay, David R., Morris, Robert L., Mushegian, Arcady, Rast, Jonathan P., Smith, L. Courtney, Thorndyke, Michael C., Vacquier, Victor D., Wessel, Gary M., Wray, Greg, Zhang, Lan, Elsik, Christine G., Ermolaeva, Olga, Hlavina, Wratko, Hofmann, Gretchen, Kitts, Paul, Landrum, Melissa J., Mackey, Aaron J., Maglott, Donna, Panopoulou, Georgia, Poustka, Albert J., Pruitt, Kim, Sapojnikov, Victor, Song, Xingzhi, Souvorov, Alexandre, Solovyev, Victor, Wei, Zheng, Whittaker, Charles A., Worley, Kim, Durbin, K. James, Shen, Yufeng, Fedrigo, Olivier, Garfield, David, Haygood, Ralph, Primus, Alexander, Satija, Rahul, Severson, Tonya, Gonzalez-Garay, Manuel L., Jackson, Andrew R., Milosavljevic, Aleksandar, Tong, Mark, Killian, Christopher E., Livingston, Brian T., Wilt, Fred H., Adams, Nikki, Belle, Robert, Carbonneau, Seth, Cheung, Rocky, Cormier, Patrick, Cosson, Bertrand, Croce, Jenifer, Fernandez-Guerra, Antonio, Geneviere, Anne-Marie, Goel, Manisha, Kelkar, Hemant, Morales, Julia, Mulner-Lorillon, Odile, Robertson, Anthony J., Goldstone, Jared V., Cole, Bryan, Epel, David, Gold, Bert, Hahn, Mark E., Howard-Ashby, Meredith, Scally, Mark, Stegeman, John J., Allgood, Erin L., Cool, Jonah, Judkins, Kyle M., McCafferty, Shawn S., Musante, Ashlan M., Obar, Robert A., Rawson, Amanda P., Rossetti, Blair J., Gibbons, Ian R., Hoffman, Matthew P., Leone, Andrew, Istrail, Sorin, Materna, Stefan C., Samanta, Manoj P., Stolc, Viktor, Tongprasit, Waraporn, Tu, Qiang, Bergeron, Karl-Frederik, Brandhorst, Bruce P., Whittle, James, Berney, Kevin, Bottjer, David J., Calestani, Cristina, Peterson, Kevin, Chow, Elly, Yuan, Qiu Autumn, Elhaik, Eran, Graur, Dan, Reese, Justin T., Bosdet, Ian, Heesun, Shin, Marra, Marco A., Schein, Jacqueline, Anderson, Michele K., Brockton, Virginia, Buckley, Katherine M., Cohen, Avis H., Fugmann, Sebastian D., Hibino, Taku, Loza-Coll, Mariano, Majeske, Audrey J., Messier, Cynthia, Nair, Sham V., Pancer, Zeev, Terwilliger, David P., Agca, Cavit, Arboleda, Enrique, Chen, Nansheng, Churcher, Allison M., Hallböök, Finn, Humphrey, Glen W., Idris, Mohammed M., Kiyama, Takae, Liang, Shuguang, Mellott, Dan, Mu, Xiuqian, Murray, Greg, Olinski, Robert P., Raible, Florian, Rowe, Matthew, Taylor, John S., Tessmar-Raible, Kristin, Wang, D., Wilson, Karen H., Yaguchi, Shunsuke, Gaasterland, Terry, Galindo, Blanca E., Gunaratne, Herath J., Juliano, Celina, Kinukawa, Masashi, Moy, Gary W., Neill, Anna T., Nomura, Mamoru, Raisch, Michael, Reade, Anna, Roux, Michelle M., Song, Jia L., Su, Yi-Hsien, Townley, Ian K., Voronina, Ekaterina, Wong, Julian L., Amore, Gabriele, Branno, Margherita, Brown, Euan R., Cavalieri, Vincenzo, Duboc, Veronique, Duloquin, Louise, Flytzanis, Constantin, Gache, Christian, Lapraz, Francois, Lepage, Thierry, Locascio, Annamaria, Martinez, Pedro, Matassi, Giorgio, Matranga, Valeria, Range, Ryan, Rizzo, Francesca, Roettinger, Eric, Wilson, Karen, Beane, Wendy, Bradham, Cynthia, Byrum, Christine, Glenn, Tom, Hussain, Sofia, Loza, Mariano, Manning, Gerard, Miranda, Esther, Thomason, Rebecca, Walton, Katherine, Wikramanayke, Athula, Whittaker, Charles, Wu, Shu-Yu, Xu, Ronghui, Brown, C. Titus, Chen, Lili, Gray, Rachel F., Lee, Pei Yun, Nam, Jongmin, Oliveri, Paola, Smith, Joel, Muzny, Donna, Bell, Stephanie, Chacko, Joseph, Cree, Andrew, Curry, Stacey, Davis, Clay, Dinh, Huyen, Dugan-Rocha, Shannon, Fowler, Jerry, Gill, Rachel, Hamilton, Cerrissa, Hernandez, Judith, Hines, Sandra, Hume, Jennifer, Jackson, LaRonda, Jolivet, Angela, Kovar, Christie, Lee, Sandra, Lewis, Lora, Miner, George, Morgan, Margaret, Nazareth, Lynne V., Okwuonu, Geoffrey, Parker, David, Pu, Ling-Ling, Thom, Rachel, and Wright, Rita
- Abstract
We report the sequence and analysis of the 814-megabase genome of the sea urchin Strongylocentrotus purpuratus, a model for developmental and systems biology. The sequencing strategy combined whole-genome shotgun and bacterial artificial chromosome (BAC) sequences. This use of BAC clones, aided by a pooling strategy, overcame difficulties associated with high heterozygosity of the genome. The genome encodes about 23,300 genes, including many previously thought to be vertebrate innovations or known only outside the deuterostomes. This echinoderm genome provides an evolutionary outgroup for the chordates and yields insights into the evolution of deuterostomes.
- Published
- 2006
- Full Text
- View/download PDF
49. Haploid accumulation and translational control of phosphoglycerate kinase-2 messenger RNA during mouse spermatogenesis
- Author
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Department of Human Genetics, Box 015, University of Michigan School of Medicine, Ann Arbor, Michigan 48109, USA, Tufts University, Department of Biology, Medford, Massachusetts 02155, USA, Gold, Bert, Fujimoto, Hirokazu, Kramer, James M., Erickson, Robert P., Hecht, Norman B., Department of Human Genetics, Box 015, University of Michigan School of Medicine, Ann Arbor, Michigan 48109, USA, Tufts University, Department of Biology, Medford, Massachusetts 02155, USA, Gold, Bert, Fujimoto, Hirokazu, Kramer, James M., Erickson, Robert P., and Hecht, Norman B.
- Abstract
The intracellular location of the mRNA for the testis-specific isozyme of phosphoglycerate kinase-2 (PGK-2) has been determined for two spermatogenic cell types. The mRNA activity for PGK-2 from the polysomal and nonpolysomal fractions of pachytene primary spermatocytes or round spermatids has been assayed by cell-free translation with the polypeptide products monitored by immunoprecipitation, followed by one-dimensional or two-dimensional electrophoresis and fluorography. The results reveal that the majority of PGK-2 mRNA activity of round spermatids was present in the polysomal fraction while the relatively less abundant PGK-2 mRNA of pachytene primary spermatocytes was present in the nonpolysomal fraction. No PGK-2 mRNA activity was observed in the cytoplasmic RNA from primitive type A spermatogonia or prepubertal Sertoli cells. These data indicate that mature PGK-2 mRNA first appears in the cytoplasm of spermatogenic cells during the prophase of meiosis and increases in amount after meiosis. Although mature PGK-2 mRNA is present in meiotic cells it is not actively translated until after meiosis has been completed. Thus, mRNA accumulation and translational mechanisms are involved in the control of phosphoglycerate kinase-2 synthesis during spermatogenesis.
- Published
- 2006
50. Author reply
- Author
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Gold, Bert, primary, Sawitzke, Julie, additional, Im, Kate, additional, Kostiha, Brittany, additional, and Dean, Michael, additional
- Published
- 2012
- Full Text
- View/download PDF
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