9 results on '"Lepistö, Anna"'
Search Results
2. Genome‐wide association study and meta‐analysis in Northern European populations replicate multiple colorectal cancer risk loci
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Tanskanen, Tomas, van den Berg, Linda, Välimäki, Niko, Aavikko, Mervi, Ness‐Jensen, Eivind, Hveem, Kristian, Wettergren, Yvonne, Bexe Lindskog, Elinor, Tõnisson, Neeme, Metspalu, Andres, Silander, Kaisa, Orlando, Giulia, Law, Philip J., Tuupanen, Sari, Gylfe, Alexandra E., Hänninen, Ulrika A., Cajuso, Tatiana, Kondelin, Johanna, Sarin, Antti‐Pekka, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Järvinen, Heikki, Renkonen‐Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka‐Pekka, Al‐Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Tenesa, Albert, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Tim S., Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchanan, Daniel D., Win, Aung K., Hopper, John, Jenkins, Mark A., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fredrick R., Casey, Graham, Cheadle, Jeremy P., Dunlop, Malcolm G., Tomlinson, Ian P., Houlston, Richard S., Palin, Kimmo, and Aaltonen, Lauri A.
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- 2018
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3. Systemic circulating microRNA landscape in Lynch syndrome.
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Sievänen, Tero, Korhonen, Tia‐Marje, Jokela, Tiina, Ahtiainen, Maarit, Lahtinen, Laura, Kuopio, Teijo, Lepistö, Anna, Sillanpää, Elina, Mecklin, Jukka‐Pekka, Seppälä, Toni T., and Laakkonen, Eija K.
- Subjects
HEREDITARY nonpolyposis colorectal cancer ,TUMOR suppressor genes ,MICRORNA ,GENE expression ,GENETIC variation ,NON-coding RNA - Abstract
Circulating microRNAs (c‐miRs) are small noncoding RNA molecules that migrate throughout the body and regulate gene expression. Global c‐miR expression patterns (c‐miRnomes) change with sporadic carcinogenesis and have predictive potential in early detection of cancers. However, there are no studies that have assessed whether c‐miRnomes display similar potential in carriers of inherited pathogenic mismatch‐repair gene variants (path_MMR), known as Lynch syndrome (LS), who are predisposed to highly increased cancer risk. Using high‐throughput sequencing and bioinformatic approaches, we conducted an exploratory analysis to characterize systemic c‐miRnomes of path_MMR carriers, sporadic rectal cancer patients and non‐LS controls. We showed for the first time that cancer‐free path_MMR carriers have a systemic c‐miRnome of 40 differentially expressed c‐miRs that can distinguish them from non‐LS controls. The systemic c‐miRnome of cancer‐free path_MMR carriers also resembles the systemic c‐miRnomes of cancer patients with or without path_MMR. Our pathway analysis linked the found differentially expressed c‐miRs to carcinogenesis. A total of 508 putative target genes were identified for 32 out of 40 differentially expressed c‐miRs, and 238 of them were enriched in cancer‐related pathways. The most enriched c‐miR‐target genes include well‐known oncogenes and tumor suppressor genes such as BCL2, AKT3, PIK3CA, KRAS, NRAS, CDKN1A and PIK3R1. Taken together, our findings suggest that LS and sporadic carcinogenesis share common biological pathways and alterations in these pathways can produce a c‐miR signature which can track potential oncogenic stress in cancer‐free path_MMR carriers. Therefore, c‐miRs hold potential in monitoring the LS risk stratification patterns during clinical surveillance or cancer management. [ABSTRACT FROM AUTHOR]
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- 2023
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4. Genomic profile of pseudomyxoma peritonei analyzed using next-generation sequencing and immunohistochemistry
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Nummela, Pirjo, Saarinen, Lilli, Thiel, Alexandra, Järvinen, Petrus, Lehtonen, Rainer, Lepistö, Anna, Järvinen, Heikki, Aaltonen, Lauri A, Hautaniemi, Sampsa, and Ristimäki, Ari
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- 2015
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5. Somatic mutation profiles as molecular classifiers of ulcerative colitis‐associated colorectal cancer
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Mäki‐Nevala, Satu, primary, Ukwattage, Sanjeevi, additional, Olkinuora, Alisa, additional, Almusa, Henrikki, additional, Ahtiainen, Maarit, additional, Ristimäki, Ari, additional, Seppälä, Toni, additional, Lepistö, Anna, additional, Mecklin, Jukka‐Pekka, additional, and Peltomäki, Päivi, additional
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- 2021
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6. Genome‐wide association study and meta‐analysis in Northern European populations replicate multiple colorectal cancer risk loci
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Tanskanen, Tomas, primary, van den Berg, Linda, additional, Välimäki, Niko, additional, Aavikko, Mervi, additional, Ness‐Jensen, Eivind, additional, Hveem, Kristian, additional, Wettergren, Yvonne, additional, Bexe Lindskog, Elinor, additional, Tõnisson, Neeme, additional, Metspalu, Andres, additional, Silander, Kaisa, additional, Orlando, Giulia, additional, Law, Philip J., additional, Tuupanen, Sari, additional, Gylfe, Alexandra E., additional, Hänninen, Ulrika A., additional, Cajuso, Tatiana, additional, Kondelin, Johanna, additional, Sarin, Antti‐Pekka, additional, Pukkala, Eero, additional, Jousilahti, Pekka, additional, Salomaa, Veikko, additional, Ripatti, Samuli, additional, Palotie, Aarno, additional, Järvinen, Heikki, additional, Renkonen‐Sinisalo, Laura, additional, Lepistö, Anna, additional, Böhm, Jan, additional, Mecklin, Jukka‐Pekka, additional, Al‐Tassan, Nada A., additional, Palles, Claire, additional, Martin, Lynn, additional, Barclay, Ella, additional, Tenesa, Albert, additional, Farrington, Susan M., additional, Timofeeva, Maria N., additional, Meyer, Brian F., additional, Wakil, Salma M., additional, Campbell, Harry, additional, Smith, Christopher G., additional, Idziaszczyk, Shelley, additional, Maughan, Tim S., additional, Kaplan, Richard, additional, Kerr, Rachel, additional, Kerr, David, additional, Buchanan, Daniel D., additional, Win, Aung K., additional, Hopper, John, additional, Jenkins, Mark A., additional, Newcomb, Polly A., additional, Gallinger, Steve, additional, Conti, David, additional, Schumacher, Fredrick R., additional, Casey, Graham, additional, Cheadle, Jeremy P., additional, Dunlop, Malcolm G., additional, Tomlinson, Ian P., additional, Houlston, Richard S., additional, Palin, Kimmo, additional, and Aaltonen, Lauri A., additional
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- 2017
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7. Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer
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Rodriguez‐Broadbent, Henry, primary, Law, Philip J., additional, Sud, Amit, additional, Palin, Kimmo, additional, Tuupanen, Sari, additional, Gylfe, Alexandra, additional, Hänninen, Ulrika A., additional, Cajuso, Tatiana, additional, Tanskanen, Tomas, additional, Kondelin, Johanna, additional, Kaasinen, Eevi, additional, Sarin, Antti‐Pekka, additional, Ripatti, Samuli, additional, Eriksson, Johan G., additional, Rissanen, Harri, additional, Knekt, Paul, additional, Pukkala, Eero, additional, Jousilahti, Pekka, additional, Salomaa, Veikko, additional, Palotie, Aarno, additional, Renkonen‐Sinisalo, Laura, additional, Lepistö, Anna, additional, Böhm, Jan, additional, Mecklin, Jukka‐Pekka, additional, Al‐Tassan, Nada A., additional, Palles, Claire, additional, Martin, Lynn, additional, Barclay, Ella, additional, Farrington, Susan M., additional, Timofeeva, Maria N., additional, Meyer, Brian F., additional, Wakil, Salma M., additional, Campbell, Harry, additional, Smith, Christopher G., additional, Idziaszczyk, Shelley, additional, Maughan, Timothy S., additional, Kaplan, Richard, additional, Kerr, Rachel, additional, Kerr, David, additional, Passarelli, Michael N., additional, Figueiredo, Jane C., additional, Buchanan, Daniel D., additional, Win, Aung K., additional, Hopper, John L., additional, Jenkins, Mark A., additional, Lindor, Noralane M., additional, Newcomb, Polly A., additional, Gallinger, Steven, additional, Conti, David, additional, Schumacher, Fred, additional, Casey, Graham, additional, Aaltonen, Lauri A., additional, Cheadle, Jeremy P., additional, Tomlinson, Ian P., additional, Dunlop, Malcolm G., additional, and Houlston, Richard S., additional
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- 2017
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8. Genomic profile of pseudomyxoma peritonei analyzed using next-generation sequencing and immunohistochemistry
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Nummela, Pirjo, primary, Saarinen, Lilli, additional, Thiel, Alexandra, additional, Järvinen, Petrus, additional, Lehtonen, Rainer, additional, Lepistö, Anna, additional, Järvinen, Heikki, additional, Aaltonen, Lauri A, additional, Hautaniemi, Sampsa, additional, and Ristimäki, Ari, additional
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- 2014
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9. GWAS and meta-analysis of CRC
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Tanskanen, Tomas, van den Berg, Linda, Välimäki, Niko, Aavikko, Mervi, Ness-Jensen, Eivind, Hveem, Kristian, Wettergren, Yvonne, Bexe Lindskog, Elinor, Tõnisson, Neeme, Metspalu, Andres, Silander, Kaisa, Orlando, Giulia, Law, Philip J., Tuupanen, Sari, Gylfe, Alexandra E., Hänninen, Ulrika A., Cajuso, Tatiana, Kondelin, Johanna, Sarin, Antti-Pekka, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Järvinen, Heikki, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Tenesa, Albert, Farrington, Susan, Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Tim S., Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchanan, Daniel D., Win, Aung K., Hopper, John, Jenkins, Mark, Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fredrick R., Casey, Graham, Cheadle, Jeremy P., Dunlop, Malcolm G., Tomlinson, Ian P., Houlston, Richard S., Palin, Kimmo, Aaltonen, Lauri A., Research Programs Unit, Lauri Antti Aaltonen / Principal Investigator, Genome-Scale Biology (GSB) Research Program, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Institute for Molecular Medicine Finland, Samuli Olli Ripatti / Principal Investigator, Biostatistics Helsinki, Aarno Palotie / Principal Investigator, Heikki Järvinen / Principal Investigator, Department of Surgery, II kirurgian klinikka, Clinicum, Centre of Excellence in Complex Disease Genetics, Centre of Excellence in Stem Cell Metabolism, Nutrient sensing laboratory, HUS Abdominal Center, Complex Disease Genetics, and Genomics of Neurological and Neuropsychiatric Disorders
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Estonia ,genetic predisposition to disease ,genome-wide association study ,COLON-CANCER ,3122 Cancers ,EFFICIENT ,colorectal cancer ,single-nucleotide polymorphism ,VARIANTS ,Polymorphism, Single Nucleotide ,Article ,DISEASE ,Cohort Studies ,MIXED-MODEL ,Case-Control Studies ,IMPUTATION ,Humans ,Registries ,Colorectal Neoplasms ,SUSCEPTIBILITY LOCUS ,COMMON VARIATION ,Finland ,CHROMOSOME 8Q24 ,SCAN - Abstract
Genome-wide association studies have been successful in elucidating the genetic basis of colorectal cancer (CRC), but there remains unexplained variability in genetic risk. To identify new risk variants and to confirm reported associations, we conducted a genome-wide association study in 1,701 CRC cases and 14,082 cancer-free controls from the Finnish population. A total of 9,068,015 genetic variants were imputed and tested, and 30 promising variants were studied in additional 11,647 cases and 12,356 controls of European ancestry. The previously reported association between the single-nucleotide polymorphism (SNP) rs992157 (2q35) and CRC was independently replicated (p = 2.08 × 10−4; OR, 1.14; 95% CI, 1.06–1.23), and it was genome-wide significant in combined analysis (p = 1.50 × 10−9; OR, 1.12; 95% CI, 1.08–1.16). Variants at 2q35, 6p21.2, 8q23.3, 8q24.21, 10q22.3, 10q24.2, 11q13.4, 11q23.1, 14q22.2, 15q13.3, 18q21.1, 20p12.3 and 20q13.33 were associated with CRC in the Finnish population (false discovery rate
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