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1. Full Text Whole-genome sequencing in healthy people
by Lindor, Noralane M and Thibodeau, Stephen N and Burke, Wylie
Mayo Clinic Proceedings, ISSN 0025-6196, 01/2017, Volume 92, Issue 1, p. 159
Pharmacogenetics | Usage | Research | Nucleotide sequencing | Genetic screening | DNA sequencing | Type 2 diabetes | Medical research | Medicine, Experimental | Genomes
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2. Full Text Immunohistochemistry versus microsatellite instability testing in phenotyping coloreetal tumors
by Lindor, Noralane M and Burgart, Lawrence J and Leontovich, Olga and Goldberg, Richard M and Cunningham, Julie M and Sargent, Daniel J and Walsh-Vockley, Catherine and Petersen, Gloria M and Walsh, Michael D and Leggett, Barbara A and Young, Joanne P and Barker, Melissa A and Jass, Jeremy R and Hopper, John and Gallinger, Steve and Bapat, Bharati and Redston, Mark and Thibodeau, Stephen N
Journal of Clinical Oncology, ISSN 0732-183X, 02/2002, Volume 20, Issue 4, pp. 1043 - 1048
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3. Full Text Type 2 diabetes mellitus, blood cholesterol, triglyceride and colorectal cancer risk in Lynch syndrome
by Dashti, S. Ghazaleh and Li, Wing Yan and Buchanan, Daniel D and Clendenning, Mark and Rosty, Christophe and Winship, Ingrid M and Macrae, Finlay A and Giles, Graham G and Hardikar, Sheetal and Hua, Xinwei and Thibodeau, Stephen N and Figueiredo, Jane C and Casey, Graham and Haile, Robert W and Gallinger, Steven and Le Marchand, Loïc and Newcomb, Polly A and Potter, John D and Lindor, Noralane M and Hopper, John L and Jenkins, Mark A and Win, Aung Ko
British Journal of Cancer, ISSN 0007-0920, 09/2019
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4. Full Text BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair
by Wang, Liang and Cunningham, Julie M and Winters, Jennifer L and Guenther, Jennifer C and French, Amy J and Boardman, Lisa A and Burgart, Lawrence J and McDonnell, Shannon K and Schaid, Daniel J and Thibodeau, Stephen N
Cancer Research, ISSN 0008-5472, 09/2003, Volume 63, Issue 17, pp. 5209 - 5212
Frequent BRAF mutations were reported recently in a variety of human malignancies, including colorectal cancer. In this study, we screened 293 colorectal... 
PROMOTER HYPERMETHYLATION | HMLH1 PROMOTER | ONCOLOGY | GENE O-6-METHYLGUANINE-DNA METHYLTRANSFERASE | G-C | TUMORIGENESIS | EXPRESSION | TUMORS | P53 | MutL Protein Homolog 1 | Oncogene Proteins - genetics | Colonic Neoplasms - genetics | Frameshift Mutation | Humans | Middle Aged | Gene Expression Regulation, Neoplastic | Base Pair Mismatch | DNA Repair - genetics | Mutation, Missense | DNA Methylation | Aged, 80 and over | Germ-Line Mutation | Neoplasm Proteins - genetics | Proto-Oncogene Proteins B-raf | Carrier Proteins | DNA-Binding Proteins | Promoter Regions, Genetic | Gene Silencing | Exons - genetics | Proto-Oncogene Proteins - genetics | MutS Homolog 2 Protein | Nuclear Proteins | Adaptor Proteins, Signal Transducing | Aged | Mutation
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5. Full Text Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability
by Cunningham, Julie M and Christensen, Eric R and Tester, David J and Kim, Cheong-Yong and Roche, Patrick C and Burgart, Lawrence J and Thibodeau, Stephen N
Cancer Research, ISSN 0008-5472, 08/1998, Volume 58, Issue 15, pp. 3455 - 3460
Recent studies have demonstrated the presence of microsatellite instability (MSI) in tumors from patients with hereditary nonpolyposis colon cancer and in a... 
HMSH2 | METHYLATION | ONCOLOGY | NONPOLYPOSIS COLORECTAL-CANCER | CPG ISLAND | MISMATCH REPAIR GENES | EXPRESSION | SOMATIC MUTATIONS | MutL Protein Homolog 1 | Colonic Neoplasms - genetics | DNA, Neoplasm - metabolism | Humans | Proto-Oncogene Proteins - genetics | MutS Homolog 2 Protein | Colonic Neoplasms - metabolism | Nuclear Proteins | Adaptor Proteins, Signal Transducing | DNA Methylation | Promoter Regions, Genetic - physiology | Polymerase Chain Reaction | Germ-Line Mutation | DNA, Neoplasm - genetics | Neoplasm Proteins - genetics | Microsatellite Repeats | Carrier Proteins | DNA-Binding Proteins
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6. Full Text Abstract 2247: Associations between total T-lymphocytes and colorectal cancer survival in a prospective cohort study of older women
by Prizment, Anna E and Vierkant, Robert A and Smyrk, Thomas C and Tillmans, Lori S and Nelson, Heather H and Lynch, Charles F and Thibodeau, Stephen N and Church, Timothy R and Cerhan, James R and Anderson, Kristin E and Limburg, Paul J
Cancer Research, ISSN 0008-5472, 07/2017, Volume 77, Issue 13 Supplement, pp. 2247 - 2247
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7. Full Text Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci
by Schumacher, Fredrick R and Al Olama, Ali Amin and Berndt, Sonja I and Benlloch, Sara and Ahmed, Mahbubl and Saunders, Edward J and Dadaev, Tokhir and Leongamornlert, Daniel and Anokian, Ezequiel and Cieza-Borrella, Clara and Goh, Chee and Brook, Mark N and Sheng, Xin and Fachal, Laura and Dennis, Joe and Tyrer, Jonathan and Muir, Kenneth and Lophatananon, Artitaya and Stevens, Victoria L and Gapstur, Susan M and Carter, Brian D and Tangen, Catherine M and Goodman, Phyllis J and Thompson, Ian M and Batra, Jyotsna and Chambers, Suzanne and Moya, Leire and Clements, Judith and Horvath, Lisa and Tilley, Wayne and Risbridger, Gail P and Gronberg, Henrik and Aly, Markus and Nordström, Tobias and Pharoah, Paul and Pashayan, Nora and Schleutker, Johanna and Tammela, Teuvo L. J and Sipeky, Csilla and Auvinen, Anssi and Albanes, Demetrius and Weinstein, Stephanie and Wolk, Alicja and Håkansson, Niclas and West, Catharine M. L and Dunning, Alison M and Burnet, Neil and Mucci, Lorelei A and Giovannucci, Edward and Andriole, Gerald L and Cussenot, Olivier and Cancel-Tassin, Géraldine and Koutros, Stella and Beane Freeman, Laura E and Sorensen, Karina Dalsgaard and Orntoft, Torben Falck and Borre, Michael and Maehle, Lovise and Grindedal, Eli Marie and Neal, David E and Donovan, Jenny L and Hamdy, Freddie C and Martin, Richard M and Travis, Ruth C and Key, Tim J and Hamilton, Robert J and Fleshner, Neil E and Finelli, Antonio and Ingles, Sue Ann and Stern, Mariana C and Rosenstein, Barry S and Kerns, Sarah L and Ostrer, Harry and Lu, Yong-Jie and Zhang, Hong-Wei and Feng, Ninghan and Mao, Xueying and Guo, Xin and Wang, Guomin and Sun, Zan and Giles, Graham G and Southey, Melissa C and MacInnis, Robert J and Fitzgerald, Liesel M and Kibel, Adam S and Drake, Bettina F and Vega, Ana and Gómez-Caamaño, Antonio and Szulkin, Robert and Eklund, Martin and Kogevinas, Manolis and Llorca, Javier and Castaño-Vinyals, Gemma and Penney, Kathryn L and Stampfer, Meir and Park, Jong Y and Sellers, Thomas A and Lin, Hui-Yi and Stanford, Janet L and Cybulski, Cezary and ... and Profile Study and Canary PASS Investigators and Canc Prostate Sweden CAPS and IMPACT Study and Prostate Canc Genome-wide As and APCB and Breast Prostate Canc Cohort Consor and PRACTICAL Prostate Canc As and Genetic Assoc Mech Oncology GAME and Breast and Prostate Cancer Cohort Consortium (BPC3) and Prostate Cancer Genome-wide Association Study of Uncommon Susceptibility Loci (PEGASUS) and Australian Prostate Cancer BioResource (APCB) and Genetic Associations and Mechanisms in Oncology (GAME-ON)/Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) Consortium and Cancer of the Prostate in Sweden (CAPS) and PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium and The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium and The IMPACT Study and The Profile Study and The Genetic Associations and Mechanisms in Oncology (GAME-ON)/Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) Consortium and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Ortopedi and Uppsala universitet and Institutionen för kirurgiska vetenskaper
Nature Genetics, ISSN 1061-4036, 07/2018, Volume 50, Issue 7, pp. 928 - 936
Genome-wide association studies (GWAS) and fine-mapping efforts to date have identified more than 100 prostate cancer (PrCa)-susceptibility loci. We... 
CONSORTIUM | METAANALYSIS | GENE | VARIANTS | PATHWAY | GENETICS & HEREDITY | RISK | MULTIPLE LOCI | IDENTIFICATION | GENOME-WIDE ASSOCIATION | PREDICTION | Genetic Predisposition to Disease | Prostatic Neoplasms - genetics | Humans | Genotype | Male | Risk | Polymorphism, Single Nucleotide | Genetic Loci | Genome-Wide Association Study - methods | Case-Control Studies | Case studies | Genome-wide association studies | Usage | Men | Genetic aspects | Health aspects | Prostate cancer | Risk factors | Genealogy | Data processing | Genomes | Mapping | Biology | Family medical history | Loci | Meta-analysis | Confidence intervals | Consortia | Signal transduction | Software | Gene mapping | Health risk assessment | Prostate | Genotypes | Cancer | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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8. Racial Differences in BRAF/KRAS Mutation Rates and Survival in Stage III Colon Cancer Patients
by Harry H Yoon and Qian Shi and Steven R Alberts and Richard M Goldberg and Stephen N Thibodeau and Daniel J Sargent and Frank A Sinicrope
Journal of the National Cancer Institute, ISSN 0027-8874, 10/2015, Volume 107, Issue 10, p. 1
  It is unknown if, after controlling for clinicopathologic variables and treatment, racial disparities in colon cancer outcomes persist. Molecular marker... 
Confidence intervals | Survival analysis | Racial differences | Colorectal cancer | Mutation
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9. Full Text Characterization of human plasma-derived exosomal RNAs by deep sequencing
by Huang, Xiaoyi and Yuan, Tiezheng and Tschannen, Michael and Sun, Zhifu and Jacob, Howard and Du, Meijun and Liang, Meihua and Dittmar, Rachel L and Liu, Yong and Liang, Mingyu and Kohli, Manish and Thibodeau, Stephen N and Boardman, Lisa and Wang, Liang
BMC Genomics, ISSN 1471-2164, 05/2013, Volume 14, Issue 1, pp. 319 - 319
Background: Exosomes, endosome-derived membrane microvesicles, contain specific RNA transcripts that are thought to be involved in cell-cell communication.... 
Plasma | Biomarker | MicroRNA | Exosome | Next generation sequencing | DENDRITIC CELLS | DIAGNOSTIC BIOMARKERS | OVARIAN-CANCER | CEREBROSPINAL-FLUID | MESSENGER-RNAS | HUMAN SALIVA | GASTRIC-CANCER | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | PROSTATE-CANCER | GENETICS & HEREDITY | microRNA | CELL-DIFFERENTIATION | PROTEOMIC ANALYSIS | Humans | Plasma - cytology | Transcriptome | Exosomes - genetics | Extracellular Space - genetics | Chromosome Mapping | RNA Stability | Blood Donors | Sequence Analysis, RNA | Base Sequence | High-Throughput Nucleotide Sequencing | MicroRNAs - genetics | MicroRNAs - chemistry | Genomic libraries | Physiological aspects | Research | Nucleotide sequencing | Methods | DNA sequencing | RNA sequencing | RNA | DNA | Proteins | Gene expression | Data bases
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10. Full Text A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer
by Al Olama, Ali Amin and Kote-Jarai, Zsofia and Berndt, Sonja I and Conti, David V and Schumacher, Fredrick and Han, Ying and Benlloch, Sara and Hazelett, Dennis J and Wang, Zhaoming and Saunders, E and Leongamornlert, Daniel and Lindstrom, Sara and Jugurnauth-Little, Sara and Dadaev, Tokhir and Tymrakiewicz, Malgorzata and Stram, Daniel O and Rand, Kristin and Wan, Peggy and Stram, Alex and Sheng, Xin and Pooler, Loreall C and Park, Karen and Xia, Lucy and Tyrer, Jonathan and Kolonel, Laurence N and Le Marchand, Loic and Hoover, Robert N and Machiela, Mitchell J and Yeager, Merideth and Burdette, Laurie and Chung, Charles C and Hutchinson, Amy and Yu, Kai and Goh, Chee and Ahmed, Mahbubl and Govindasami, Koveela and Guy, Michelle and Tammela, Teuvo L J and Auvinen, Anssi and Wahlfors, Tiina and Schleutker, Johanna and Visakorpi, Tapio and Leinonen, Katri A and Xu, Jianfeng and Aly, Markus and Donovan, Jenny and Travis, Ruth C and Key, Tim J and Siddiq, Afshan and Canzian, Federico and Khaw, Kay-Tee and Takahashi, Atsushi and Kubo, Michiaki and Pharoah, Paul and Pashayan, Nora and Weischer, Maren and Nordestgaard, Borge G and Nielsen, Sune F and Klarskov, Peter and Røder, Martin Andreas and Iversen, Peter and Thibodeau, Stephen N and McDonnell, Shannon K and Schaid, Daniel J and Stanford, Janet L and Kolb, Suzanne and Holt, Sarah and Knudsen, Beatrice and Coll, Antonio Hurtado and Gapstur, Susan M and Diver, W Ryan and Stevens, Victoria L and Maier, Christiane and Luedeke, Manuel and Herkommer, Kathleen and Rinckleb, Antje E and Strom, Sara S and Pettaway, Curtis and Yeboah, Edward D and Tettey, Yao and Biritwum, Richard B and Adjei, Andrew A and Tay, Evelyn and Truelove, Ann and Niwa, Shelley and Chokkalingam, Anand P and Cannon-Albright, Lisa and Cybulski, Cezary and Wokołorczyk, Dominika and Kluźniak, Wojciech and Park, Jong and Sellers, Thomas and Lin, Hui-Yi and Isaacs, William B and Partin, Alan W and Brenner, Hermann and Dieffenbach, Aida Karina and Stegmaier, Christa and Chen, Constance and Giovannucci, Edward L and ... and Practical Prostate Canc Associatio and GAME-ON ELLIPSE Consortium and Breast Prostate Canc Cohort Consor and COGS Consortium and Breast and Prostate Cancer Cohort Consortium (BPC3) and GAME-ON/ELLIPSE Consortium and COGS (Collaborative Oncological Gene-environment Study) Consortium and PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium and The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium and The Breast and Prostate Cancer Cohort Consortium (BPC3) and The COGS (Collaborative Oncological Gene-environment Study) Consortium and The GAME-ON/ELLIPSE Consortium
Nature Genetics, ISSN 1061-4036, 09/2014, Volume 46, Issue 10, pp. 1103 - 1109
Genome-wide association studies (GWAS) have identified 76 variants associated with prostate cancer risk predominantly in populations of European ancestry. To... 
COMMON VARIANTS | GLIOMA | MEN | GENETICS & HEREDITY | RISK | JAPANESE | MYOSIN VI | 22Q13 | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Prostatic Neoplasms - genetics | Risk Assessment | Humans | Risk Factors | Genetic Loci - genetics | Genotype | Male | Polymorphism, Single Nucleotide | Quantitative trait loci | Genetic aspects | Prostate cancer | Identification and classification | Health aspects | Risk factors | Studies | Genealogy | Men | Genomes | Health risk assessment | Meta-analysis
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11. Full Text Abstract 1536: Whole genome sequencing of high-grade treatment-naïve prostate tumors
by Decker, Brennan J and Karyadi, Danielle M and Karlins, Eric and Davis, Brian W and Tillmans, Lori S and Thibodeau, Stephen N and Ostrander, Elaine A
Cancer Research, ISSN 0008-5472, 10/2014, Volume 74, Issue 19 Supplement, pp. 1536 - 1536
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12. Full Text Abstract 2636: Tumor-infiltrating cytotoxic T-cells are associated with improved survival of colorectal cancer patients
by Prizment, Anna E and Vierkant, Robert A and Smyrk, Thomas C and Tillmans, Lori S and Nelson, Heather H and Lynch, Charles F and Thibodeau, Stephen N and Church, Timothy R and Cerhan, James R and Anderson, Kristin E and Limburg, Paul J
Cancer Research, ISSN 0008-5472, 07/2016, Volume 76, Issue 14 Supplement, pp. 2636 - 2636
Background: The immune response has been shown to impact the course of colorectal cancer (CRC). Our goal was to examine the survival of CRC patients in... 
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13. Full Text Diagnosis of α-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping
by Snyder, Melissa R and Katzmann, Jerry A and Butz, Malinda L and Yang, Ping and Dawson, D. Brian and Halling, Kevin C and Highsmith, W. Edward and Thibodeau, Stephen N
Clinical Chemistry, ISSN 0009-9147, 12/2006, Volume 52, Issue 12, pp. 2236 - 2242
Background: Laboratory testing in suspected alpha-1-antitrypsin (MAT) deficiency involves analysis of A1AT concentrations and identification of specific... 
PI-ASTERISK-S | ALPHA1-ANTITRYPSIN | ALPHA-ANTITRYPSIN DEFICIENCY | SEQUENCE | MUTATION | DEGRADATION | MEDICAL LABORATORY TECHNOLOGY | INHIBITOR | Nephelometry and Turbidimetry | Phenotype | Algorithms | alpha 1-Antitrypsin - genetics | Humans | Genotype | Retrospective Studies | Early Diagnosis | alpha 1-Antitrypsin Deficiency - diagnosis
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14. Full Text Shared heritability and functional enrichment across six solid cancers
by Jiang, Xia and Jiang, Xia and Finucane, Hilary K and Finucane, Hilary K and Schumacher, Fredrick R and Schumacher, Fredrick R and Schmit, Stephanie L and Tyrer, Jonathan P and Tyrer, Jonathan P and Han, Younghun and Han, Younghun and Michailidou, Kyriaki and Michailidou, Kyriaki and Lesseur, Corina and Kuchenbaecker, Karoline B and Kuchenbaecker, Karoline B and Dennis, Joe and Conti, David V and Casey, Graham and Gaudet, Mia M and Huyghe, Jeroen R and Albanes, Demetrius and Aldrich, Melinda C and Aldrich, Melinda C and Andrew, Angeline S and Andrew, Angeline S and Andrulis, Irene L and Anton-Culver, Hoda and Anton-Culver, Hoda and Antoniou, Antonis C and Antoniou, Antonis C and Antonenkova, Natalia N and Antonenkova, Natalia N and Arnold, Susanne M and Aronson, Kristan J and Aronson, Kristan J and Arun, Banu K and Arun, Banu K and Bandera, Elisa V and Bandera, Elisa V and Barkardottir, Rosa B and Barnes, Daniel R and Batra, Jyotsna and Beckmann, Matthias W and Benitez, Javier and Benitez, Javier and Benlloch, Sara and Benlloch, Sara and Berchuck, Andrew and Berchuck, Andrew and Berndt, Sonja I and Bickeböller, Heike and Bien, Stephanie A and Bien, Stephanie A and Blomqvist, Carl and Blomqvist, Carl and Boccia, Stefania and Bogdanova, Natalia V and Bogdanova, Natalia V and Bojesen, Stig E and Bolla, Manjeet K and Bolla, Manjeet K and Brauch, Hiltrud and Brenner, Hermann and Brenton, James D and Brenton, James D and Brook, Mark N and Brook, Mark N and Brunet, Joan and Brunet, Joan and Brunnström, Hans and Buchanan, Daniel D and Buchanan, Daniel D and Burwinkel, Barbara and Burwinkel, Barbara and Butzow, Ralf and Cadoni, Gabriella and Caldés, Trinidad and Caldés, Trinidad and Caligo, Maria A and Caligo, Maria A and Campbell, Ian and Campbell, Ian and Campbell, Peter T and Cancel-Tassin, Géraldine and Cancel-Tassin, Géraldine and Cannon-Albright, Lisa and Cannon-Albright, Lisa and Campa, Daniele and Campa, Daniele and Caporaso, Neil and Carvalho, André L and Carvalho, André L and Chan, Andrew T and Chan, Andrew T and Chang-Claude, Jenny and Chang-Claude, Jenny and Chanock, Stephen J and Chanock, Stephen J and Chen, Chu and ...
Nature Communications, ISSN 2041-1723, 01/2019, Volume 10, Issue 1, pp. 431 - 23
Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association... 
BREAST-CANCER | LUNG-CANCER | RISK-FACTORS | PARTITIONING HERITABILITY | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY LOCI | GENETIC ARCHITECTURE | ANALYSES IDENTIFY | MENDELIAN RANDOMIZATION | CELL-TYPES | GENOME-WIDE ASSOCIATION | Lung Neoplasms - ethnology | Colorectal Neoplasms - genetics | Humans | Ovarian Neoplasms - pathology | Lung Neoplasms - pathology | Male | Prostatic Neoplasms - diagnosis | Case-Control Studies | Colorectal Neoplasms - diagnosis | Ovarian Neoplasms - ethnology | Inheritance Patterns | Ovarian Neoplasms - genetics | Mental Disorders - genetics | Prostatic Neoplasms - genetics | Smoking - physiopathology | Head and Neck Neoplasms - ethnology | Female | Neoplasm Proteins - genetics | Breast Neoplasms - ethnology | Lung Neoplasms - genetics | Prostatic Neoplasms - pathology | Genetic Predisposition to Disease | Genome-Wide Association Study | Colorectal Neoplasms - ethnology | Ovarian Neoplasms - diagnosis | European Continental Ancestry Group | Smoking - genetics | Prostatic Neoplasms - ethnology | Head and Neck Neoplasms - pathology | Mental Disorders - physiopathology | Smoking - ethnology | Phenotype | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Head and Neck Neoplasms - diagnosis | Head and Neck Neoplasms - genetics | Breast Neoplasms - diagnosis | Mental Disorders - ethnology | Polymorphism, Single Nucleotide | Colorectal Neoplasms - pathology | Lung Neoplasms - diagnosis | Enrichment | Correlation | Statistical analysis | Ovarian carcinoma | Mental disorders | Lung cancer | Colorectal carcinoma | Genomes | Breast cancer | Regulatory sequences | Ovarian cancer | Etiology | Breast | Heritability | Neck | Solid tumors | Prostate cancer | Prostate | Cancer | Smoking
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