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2. Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia

Author

Olkinuora, Alisa, Nieminen, Taina T., Douglas, Suvi, Kauppinen, Anni, Kontro, Mika, Väänänen, Juho, Kankainen, Matti, Ristimäki, Ari, Mäkinen, Markus, Lahermo, Päivi, Heckman, Caroline, Saarela, Janna, Salonen, Milla, Lepistö, Anna, Järvinen, Heikki, Mecklin, Jukka-Pekka, Kilpivaara, Outi, Wartiovaara-Kautto, Ulla, Porkka, Kimmo, and Peltomäki, Päivi

Published
2023
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5. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Author

Dominguez-Valentin, Mev, Haupt, Saskia, Seppälä, Toni T., Sampson, Julian R., Sunde, Lone, Bernstein, Inge, Jenkins, Mark A., Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Balaguer, Francesc, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Della Valle, Adriana, Heinimann, Karl, Dębniak, Tadeusz, Fruscio, Robert, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Katz, Lior H., Laish, Ido, Vainer, Elez, Vaccaro, Carlos, Carraro, Dirce Maria, Monahan, Kevin, Half, Elizabeth, Stakelum, Aine, Winter, Des, Kennelly, Rory, Gluck, Nathan, Sheth, Harsh, Abu-Freha, Naim, Greenblatt, Marc, Rossi, Benedito Mauro, Bohorquez, Mabel, Cavestro, Giulia Martina, Lino-Silva, Leonardo S., Horisberger, Karoline, Tibiletti, Maria Grazia, Nascimento, Ivana do, Thomas, Huw, Rossi, Norma Teresa, Apolinário da Silva, Leandro, Zaránd, Attila, Ruiz-Bañobre, Juan, Heuveline, Vincent, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Therkildsen, Christina, Madsen, Mia Gebauer, Burgdorf, Stefan Kobbelgaard, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Schröck, Evelin, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, Redler, Silke, Büttner, Reinhard, Weitz, Jürgen, Pineda, Marta, Duenas, Nuria, Vidal, Joan Brunet, Moreira, Leticia, Sánchez, Ariadna, Hovig, Eivind, Nakken, Sigve, Green, Kate, Lalloo, Fiona, Hill, James, Crosbie, Emma, Mints, Miriam, Goldberg, Yael, Tjandra, Douglas, ten Broeke, Sanne W., Kariv, Revital, Rosner, Guy, Advani, Suresh H., Thomas, Lidiya, Shah, Pankaj, Shah, Mithun, Neffa, Florencia, Esperon, Patricia, Pavicic, Walter, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia Alejandra, Moslein, Gabriela, and Moller, Pål

Published
2023
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7. Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Author

Dominguez-Valentin, Mev, Crosbie, Emma J., Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Thomas, Huw, Nakken, Sigve, Hovig, Eivind, Nielsen, Maartje, Sijmons, Rolf H., Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Mints, Miriam, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Green, Kate, Lalloo, Fiona, Hill, James, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Strauß, Hans-Georg, Tecklenburg, Johanna, Holinski-Feder, Elke, Steinke-Lange, Verena, Mecklin, Jukka-Pekka, Plazzer, John-Paul, Pineda, Marta, Navarro, Matilde, Vidal, Joan Brunet, Kariv, Revital, Rosner, Guy, Piñero, Tamara Alejandra, Gonzalez, María Laura, Kalfayan, Pablo, Ryan, Neil, ten Broeke, Sanne W., Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Burn, John, Greenblatt, Marc, de Vos tot Nederveen Cappel, Wouter H., Della Valle, Adriana, Lopez-Koestner, Francisco, Alvarez, Karin, Büttner, Reinhard, Görgens, Heike, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Weitz, Jürgen, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Auranen, Annika, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Denton, Oliver G., Rødland, Einar Andreas, Vasen, Hans, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Sampson, Julian R., Evans, D. Gareth, Seppälä, Toni T., and Møller, Pål

Published
2021
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12. Short- and Long-Term Survival among Elderly Colorectal Cancer Patients in Finland, 2006–2015: A Nationwide Population-Based Registry Study.

Author

Hukkinen, Tanja, Olenius, Tobias, Koskensalo, Selja, Lepistö, Anna, Koskenvuo, Laura, and Böckelman, Camilla

Subjects
REPORTING of diseases, CONFIDENCE intervals, TIME, AGE distribution, METASTASIS, COLORECTAL cancer, SEX distribution, TUMOR classification, DESCRIPTIVE statistics, POSTOPERATIVE period, RESEARCH funding, OVERALL survival, LONGITUDINAL method, OLD age
Abstract

Simple Summary: This study aimed to assess the short- and long-term survival of elderly (≥75 years old) CRC patients. Survival was analyzed according to tumor location, cancer stage, and age group. Our results showed that CRC survival among elderly patients with localized or locally advanced disease is generally good when considering the age of patients. In particular, the 75–79 and 80–84 age groups exhibited fairly good survival when compared with younger age groups. The long-term overall survival of patients aged ≥ 85 was, as expected, worse than in younger patients. However, the postoperative short-term survival for patients eligible for surgery was good, taking into account that we also included emergency procedures. These findings emphasize the importance of optimizing care for elderly CRC patients. This population-based registry study aimed to report 30-day and one-year postoperative survival, five-year overall survival (OS), and disease-specific survival (DSS) among elderly (≥75 years old) colorectal cancer (CRC) patients. All new colorectal cancer cases from 2006–2015 were included and followed until death or the end of follow-up (end of 2016). Among 27,088 CRC patients, 11,306 patients were ≥75 years old. Among patients ≥ 75 years, 36.8% (n = 4160) had right-sided colon cancer, 21.9% (n = 2478) left-sided colon cancer, and 32.3% (n = 3650) rectal cancer. In this study population, 932 patients were aged ≥ 90. The 30-day postoperative OS for patients aged 75–79 was 96.1% (95% confidence interval [CI] 95.3–96.9) falling to 93.2% (95% CI 92.0–94.4) for patients aged 80–84. The one-year postoperative OS among patients aged 75–79 was 86.3% (95% CI 84.7–87.9) compared with 80.5% (95% CI 78.7–82.3) among patients aged 80–84. Five-year OS among patients aged 75–79 was 47.6% (95% CI 46.0–49.2) and 36.6% (95% CI 34.8–38.4) among patients aged 80–84, compared with 61.7% (95% CI 60.9–62.5) among younger patients (<75 years old). Survival among elderly CRC patients (≥75 years old) was in general fairly good when compared with younger patients, especially among patients aged 75–79 and 80–84 with localized or locally advanced disease. [ABSTRACT FROM AUTHOR]

Published
2024
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16. Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

Author

May-Wilson, Sebastian, Sud, Amit, Law, Philip J., Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy S., Fisher, David, Kerr, Rachel, Kerr, David, Passarelli, Michael N., Figueiredo, Jane C., Buchanan, Daniel D., Win, Aung K., Hopper, John L., Jenkins, Mark A., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steven, Conti, David, Schumacher, Fred, Casey, Graham, Aaltonen, Lauri A., Cheadle, Jeremy P., Tomlinson, Ian P., Dunlop, Malcolm G., and Houlston, Richard S.

Published
2017
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17. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment:a report from the prospective Lynch syndrome database

Author

Dominguez-Valentin, Mev, Haupt, Saskia, Seppälä, Toni T., Sampson, Julian R., Sunde, Lone, Bernstein, Inge, Jenkins, Mark A., Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Balaguer, Francesc, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John Paul, Sijmons, Rolf, Laghi, Luigi, Della Valle, Adriana, Heinimann, Karl, Dębniak, Tadeusz, Fruscio, Robert, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Katz, Lior H., Laish, Ido, Vainer, Elez, Vaccaro, Carlos, Carraro, Dirce Maria, Monahan, Kevin, Half, Elizabeth, Stakelum, Aine, Winter, Des, Kennelly, Rory, Gluck, Nathan, Sheth, Harsh, Abu-Freha, Naim, Greenblatt, Marc, Rossi, Benedito Mauro, Bohorquez, Mabel, Cavestro, Giulia Martina, Lino-Silva, Leonardo S., Horisberger, Karoline, Tibiletti, Maria Grazia, Nascimento, Ivana do, Thomas, Huw, Rossi, Norma Teresa, Apolinário da Silva, Leandro, Zaránd, Attila, Ruiz-Bañobre, Juan, Heuveline, Vincent, Mecklin, Jukka Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Therkildsen, Christina, Madsen, Mia Gebauer, Burgdorf, Stefan Kobbelgaard, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Schröck, Evelin, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, Redler, Silke, Büttner, Reinhard, Weitz, Jürgen, Pineda, Marta, Duenas, Nuria, Vidal, Joan Brunet, Moreira, Leticia, Sánchez, Ariadna, Hovig, Eivind, Nakken, Sigve, Green, Kate, Lalloo, Fiona, Hill, James, Crosbie, Emma, Mints, Miriam, Goldberg, Yael, Tjandra, Douglas, ten Broeke, Sanne W., Kariv, Revital, Rosner, Guy, Advani, Suresh H., Thomas, Lidiya, Shah, Pankaj, Shah, Mithun, Neffa, Florencia, Esperon, Patricia, Pavicic, Walter, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia Alejandra, Moslein, Gabriela, Moller, Pål, Dominguez-Valentin, Mev, Haupt, Saskia, Seppälä, Toni T., Sampson, Julian R., Sunde, Lone, Bernstein, Inge, Jenkins, Mark A., Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Balaguer, Francesc, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John Paul, Sijmons, Rolf, Laghi, Luigi, Della Valle, Adriana, Heinimann, Karl, Dębniak, Tadeusz, Fruscio, Robert, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Katz, Lior H., Laish, Ido, Vainer, Elez, Vaccaro, Carlos, Carraro, Dirce Maria, Monahan, Kevin, Half, Elizabeth, Stakelum, Aine, Winter, Des, Kennelly, Rory, Gluck, Nathan, Sheth, Harsh, Abu-Freha, Naim, Greenblatt, Marc, Rossi, Benedito Mauro, Bohorquez, Mabel, Cavestro, Giulia Martina, Lino-Silva, Leonardo S., Horisberger, Karoline, Tibiletti, Maria Grazia, Nascimento, Ivana do, Thomas, Huw, Rossi, Norma Teresa, Apolinário da Silva, Leandro, Zaránd, Attila, Ruiz-Bañobre, Juan, Heuveline, Vincent, Mecklin, Jukka Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Therkildsen, Christina, Madsen, Mia Gebauer, Burgdorf, Stefan Kobbelgaard, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Schröck, Evelin, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, Redler, Silke, Büttner, Reinhard, Weitz, Jürgen, Pineda, Marta, Duenas, Nuria, Vidal, Joan Brunet, Moreira, Leticia, Sánchez, Ariadna, Hovig, Eivind, Nakken, Sigve, Green, Kate, Lalloo, Fiona, Hill, James, Crosbie, Emma, Mints, Miriam, Goldberg, Yael, Tjandra, Douglas, ten Broeke, Sanne W., Kariv, Revital, Rosner, Guy, Advani, Suresh H., Thomas, Lidiya, Shah, Pankaj, Shah, Mithun, Neffa, Florencia, Esperon, Patricia, Pavicic, Walter, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia Alejandra, Moslein, Gabriela, and Moller, Pål

Abstract

Background The Prospective Lynch Syndrome Database (PLSD) collates information on carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who are receiving medical follow-up, including colonoscopy surveillance, which aims to the achieve early diagnosis and treatment of cancers. Here we use the most recent PLSD cohort that is larger and has wider geographical representation than previous versions, allowing us to present mortality as an outcome, and median ages at cancer diagnoses for the first time. Methods The PLSD is a prospective observational study without a control group that was designed in 2012 and updated up to October 2022. Data for 8500 carriers of path_MMR variants from 25 countries were included, providing 71,713 years of follow up. Cumulative cancer incidences at 65 years of age were combined with 10-year crude survival following cancer, to derive estimates of mortality up to 75 years of age by organ, gene, and gender. Findings Gynaecological cancers were more frequent than colorectal cancers in path_MSH2, path_MSH6 and path_PMS2 carriers [cumulative incidence: 53.3%, 49.6% and 23.3% at 75 years, respectively]. Endometrial, colon and ovarian cancer had low mortality [8%, 13% and 15%, respectively] and prostate cancers were frequent in male path_MSH2 carriers [cumulative incidence: 39.7% at 75 years]. Pancreatic, brain, biliary tract and ureter and kidney and urinary bladder cancers were associated with high mortality [83%, 66%, 58%, 27%, and 29%, respectively]. Among path_MMR carriers undergoing colonoscopy surveillance, particularly path_MSH2 carriers, more deaths followed non-colorectal Lynch syndrome cancers than colorectal cancers. Interpretation In path_MMR carriers undergoing colonoscopy surveillance, non-colorectal Lynch syndrome cancers were associated with more deaths than were colorectal cancers. Reducing deaths from non-colorectal cancers presents a key challenge in contemporary medical ca, Background: The Prospective Lynch Syndrome Database (PLSD) collates information on carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who are receiving medical follow-up, including colonoscopy surveillance, which aims to the achieve early diagnosis and treatment of cancers. Here we use the most recent PLSD cohort that is larger and has wider geographical representation than previous versions, allowing us to present mortality as an outcome, and median ages at cancer diagnoses for the first time. Methods: The PLSD is a prospective observational study without a control group that was designed in 2012 and updated up to October 2022. Data for 8500 carriers of path_MMR variants from 25 countries were included, providing 71,713 years of follow up. Cumulative cancer incidences at 65 years of age were combined with 10-year crude survival following cancer, to derive estimates of mortality up to 75 years of age by organ, gene, and gender. Findings: Gynaecological cancers were more frequent than colorectal cancers in path_MSH2, path_MSH6 and path_PMS2 carriers [cumulative incidence: 53.3%, 49.6% and 23.3% at 75 years, respectively]. Endometrial, colon and ovarian cancer had low mortality [8%, 13% and 15%, respectively] and prostate cancers were frequent in male path_MSH2 carriers [cumulative incidence: 39.7% at 75 years]. Pancreatic, brain, biliary tract and ureter and kidney and urinary bladder cancers were associated with high mortality [83%, 66%, 58%, 27%, and 29%, respectively]. Among path_MMR carriers undergoing colonoscopy surveillance, particularly path_MSH2 carriers, more deaths followed non-colorectal Lynch syndrome cancers than colorectal cancers. Interpretation: In path_MMR carriers undergoing colonoscopy surveillance, non-colorectal Lynch syndrome cancers were associated with more deaths than were colorectal cancers. Reducing deaths from non-colorectal cancers presents a key challenge in contemporary medical care in Lynch syndrome. Funding: We ac

Published
2023

18. Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

Author

Dominguez-Valentin, Mev, Seppälä, Toni T., Sampson, Julian R., Macrae, Finlay, Winship, Ingrid, Evans, D. Gareth, Scott, Rodney J., Burn, John, Möslein, Gabriela, Bernstein, Inge, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Lindblom, Annika, Plazzer, John-Paul, Tjandra, Douglas, Thomas, Huw, Green, Kate, Lalloo, Fiona, Crosbie, Emma J., Hill, James, Capella, Gabriel, Pineda, Marta, Navarro, Matilde, Vidal, Joan Brunet, Rønlund, Karina, Nielsen, Randi Thyregaard, Yilmaz, Mette, Elvang, Louise Laurberg, Katz, Lior, Nielsen, Maartje, ten Broeke, Sanne W., Nakken, Sigve, Hovig, Eivind, Sunde, Lone, Kloor, Matthias, Knebel Doeberitz, Magnus v, Ahadova, Aysel, Lindor, Noralane, Steinke-Lange, Verena, Holinski-Feder, Elke, Mecklin, Jukka-Pekka, and Møller, Pål

Published
2019
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20. Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity

Author

Kansikas, Minttu, primary, Vähätalo, Laura, additional, Kantelinen, Jukka, additional, Kasela, Mariann, additional, Putula, Jaana, additional, Døhlen, Anni, additional, Paloviita, Pauliina, additional, Kärkkäinen, Emmi, additional, Lahti, Niklas, additional, Arnez, Philippe, additional, Kilpinen, Sami, additional, Alcala-Repo, Beatriz, additional, Pylvänäinen, Kirsi, additional, Pöyhönen, Minna, additional, Peltomäki, Päivi, additional, Järvinen, Heikki J., additional, Seppälä, Toni T., additional, Renkonen-Sinisalo, Laura, additional, Lepistö, Anna, additional, Mecklin, Jukka-Pekka, additional, and Nyström, Minna, additional

Published
2023
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25. Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival

Author

Cajuso, Tatiana, Sulo, Päivi, Tanskanen, Tomas, Katainen, Riku, Taira, Aurora, Hänninen, Ulrika A., Kondelin, Johanna, Forsström, Linda, Välimäki, Niko, Aavikko, Mervi, Kaasinen, Eevi, Ristimäki, Ari, Koskensalo, Selja, Lepistö, Anna, Renkonen-Sinisalo, Laura, Seppälä, Toni, Kuopio, Teijo, Böhm, Jan, Mecklin, Jukka-Pekka, Kilpivaara, Outi, Pitkänen, Esa, Palin, Kimmo, and Aaltonen, Lauri A.

Published
2019
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27. Association analyses identify 31 new risk loci for colorectal cancer susceptibility

Author

Law, Philip J., Timofeeva, Maria, Fernandez-Rozadilla, Ceres, Broderick, Peter, Studd, James, Fernandez-Tajes, Juan, Farrington, Susan, Svinti, Victoria, Palles, Claire, Orlando, Giulia, Sud, Amit, Holroyd, Amy, Penegar, Steven, Theodoratou, Evropi, Vaughan-Shaw, Peter, Campbell, Harry, Zgaga, Lina, Hayward, Caroline, Campbell, Archie, Harris, Sarah, Deary, Ian J., Starr, John, Gatcombe, Laura, Pinna, Maria, Briggs, Sarah, Martin, Lynn, Jaeger, Emma, Sharma-Oates, Archana, East, James, Leedham, Simon, Arnold, Roland, Johnstone, Elaine, Wang, Haitao, Kerr, David, Kerr, Rachel, Maughan, Tim, Kaplan, Richard, Al-Tassan, Nada, Palin, Kimmo, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Buchanan, Daniel D., Win, Aung-Ko, Hopper, John, Jenkins, Mark E., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steven, Duggan, David, Casey, Graham, Hoffmann, Per, Nöthen, Markus M., Jöckel, Karl-Heinz, Easton, Douglas F., Pharoah, Paul D. P., Peto, Julian, Canzian, Federico, Swerdlow, Anthony, Eeles, Rosalind A., Kote-Jarai, Zsofia, Muir, Kenneth, Pashayan, Nora, The PRACTICAL consortium, Harkin, Andrea, Allan, Karen, McQueen, John, Paul, James, Iveson, Timothy, Saunders, Mark, Butterbach, Katja, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Kirac, Iva, Matošević, Petar, Hofer, Philipp, Brezina, Stefanie, Gsur, Andrea, Cheadle, Jeremy P., Aaltonen, Lauri A., Tomlinson, Ian, Houlston, Richard S., and Dunlop, Malcolm G.

Published
2019
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28. Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

Author

Seppälä, Toni T., Ahadova, Aysel, Dominguez-Valentin, Mev, Macrae, Finlay, Evans, D. Gareth, Therkildsen, Christina, Sampson, Julian, Scott, Rodney, Burn, John, Möslein, Gabriela, Bernstein, Inge, Holinski-Feder, Elke, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Lautrup, Charlotte Kvist, Lindblom, Annika, Plazzer, John-Paul, Winship, Ingrid, Tjandra, Douglas, Katz, Lior H., Aretz, Stefan, Hüneburg, Robert, Holzapfel, Stefanie, Heinimann, Karl, Valle, Adriana Della, Neffa, Florencia, Gluck, Nathan, de Vos tot Nederveen Cappel, Wouter H., Vasen, Hans, Morak, Monika, Steinke-Lange, Verena, Engel, Christoph, Rahner, Nils, Schmiegel, Wolff, Vangala, Deepak, Thomas, Huw, Green, Kate, Lalloo, Fiona, Crosbie, Emma J., Hill, James, Capella, Gabriel, Pineda, Marta, Navarro, Matilde, Blanco, Ignacio, ten Broeke, Sanne, Nielsen, Maartje, Ljungmann, Ken, Nakken, Sigve, Lindor, Noralane, Frayling, Ian, Hovig, Eivind, Sunde, Lone, Kloor, Matthias, Mecklin, Jukka-Pekka, Kalager, Mette, and Møller, Pål

Published
2019
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29. Systemic circulating microRNA landscape in Lynch syndrome

Author

Sievänen, Tero, primary, Korhonen, Tia‐Marje, additional, Jokela, Tiina, additional, Ahtiainen, Maarit, additional, Lahtinen, Laura, additional, Kuopio, Teijo, additional, Lepistö, Anna, additional, Sillanpää, Elina, additional, Mecklin, Jukka‐Pekka, additional, Seppälä, Toni T., additional, and Laakkonen, Eija K., additional

Published
2022
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30. Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents

Author

Olkinuora, Alisa Petriina, primary, Mayordomo, Andrea Constanza, additional, Kauppinen, Anni Katariina, additional, Cerliani, María Belén, additional, Coraglio, Mariana, additional, Collia, Ávila Karina, additional, Gutiérrez, Alejandro, additional, Alvarez, Karin, additional, Cassana, Alessandra, additional, Lopéz-Köstner, Francisco, additional, Jauk, Federico, additional, García-Rivello, Hernán, additional, Ristimäki, Ari, additional, Koskenvuo, Laura, additional, Lepistö, Anna, additional, Nieminen, Taina Tuulikki, additional, Vaccaro, Carlos Alberto, additional, Pavicic, Walter Hernán, additional, and Peltomäki, Päivi, additional

Published
2022
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31. Genome‐wide association study and meta‐analysis in Northern European populations replicate multiple colorectal cancer risk loci

Author

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.

Published
2018
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35. Contribution of allelic imbalance to colorectal cancer

Author

Palin, Kimmo, Pitkänen, Esa, Turunen, Mikko, Sahu, Biswajyoti, Pihlajamaa, Päivi, Kivioja, Teemu, Kaasinen, Eevi, Välimäki, Niko, Hänninen, Ulrika A., Cajuso, Tatiana, Aavikko, Mervi, Tuupanen, Sari, Kilpivaara, Outi, van den Berg, Linda, Kondelin, Johanna, Tanskanen, Tomas, Katainen, Riku, Grau, Marta, Rauanheimo, Heli, Plaketti, Roosa-Maria, Taira, Aurora, Sulo, Päivi, Hartonen, Tuomo, Dave, Kashyap, Schmierer, Bernhard, Botla, Sandeep, Sokolova, Maria, Vähärautio, Anna, Gladysz, Kornelia, Ongen, Halit, Dermitzakis, Emmanouil, Bramsen, Jesper Bertram, Ørntoft, Torben Falck, Andersen, Claus Lindbjerg, Ristimäki, Ari, Lepistö, Anna, Renkonen-Sinisalo, Laura, Mecklin, Jukka-Pekka, Taipale, Jussi, and Aaltonen, Lauri A.

Published
2018
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40. Systemic circulating microRNA landscape in Lynch syndrome.

Author

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]

Published
2023
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46. Genetic and Epigenetic Characteristics of Inflammatory Bowel Disease–Associated Colorectal Cancer

Author

Rajamäki, Kristiina, primary, Taira, Aurora, additional, Katainen, Riku, additional, Välimäki, Niko, additional, Kuosmanen, Anna, additional, Plaketti, Roosa-Maria, additional, Seppälä, Toni T., additional, Ahtiainen, Maarit, additional, Wirta, Erkki-Ville, additional, Vartiainen, Emilia, additional, Sulo, Päivi, additional, Ravantti, Janne, additional, Lehtipuro, Suvi, additional, Granberg, Kirsi J., additional, Nykter, Matti, additional, Tanskanen, Tomas, additional, Ristimäki, Ari, additional, Koskensalo, Selja, additional, Renkonen-Sinisalo, Laura, additional, Lepistö, Anna, additional, Böhm, Jan, additional, Taipale, Jussi, additional, Mecklin, Jukka-Pekka, additional, Aavikko, Mervi, additional, Palin, Kimmo, additional, and Aaltonen, Lauri A., additional

Published
2021
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48. Identification of DHX40as a candidate susceptibility gene for colorectal and hematological neoplasia

Author

Olkinuora, Alisa, Nieminen, Taina T., Douglas, Suvi, Kauppinen, Anni, Kontro, Mika, Väänänen, Juho, Kankainen, Matti, Ristimäki, Ari, Mäkinen, Markus, Lahermo, Päivi, Heckman, Caroline, Saarela, Janna, Salonen, Milla, Lepistö, Anna, Järvinen, Heikki, Mecklin, Jukka-Pekka, Kilpivaara, Outi, Wartiovaara-Kautto, Ulla, Porkka, Kimmo, and Peltomäki, Päivi

Published
2023
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50. Repeated centralized multidisciplinary team assessment of resectability, clinical behavior, and outcomes in 1086 Finnish metastatic colorectal cancer patients (RAXO) : A nationwide prospective intervention study

Author

Osterlund, Pia, Salminen, Tapio, Soveri, Leena-Maija, Kallio, Raija, Kellokumpu, Ilmo, Lamminmäki, Annamarja, Halonen, Päivi, Ristamäki, Raija, Lantto, Eila, Uutela, Aki, Österlund, Emerik, Ovissi, Ali, Nordin, Arno, Heervä, Eetu, Lehtomäki, Kaisa, Räsänen, Jari, Murashev, Maija, Aroviita, Laura, Jekunen, Antti, Lindvall-Andersson, Renee, Nyandoto, Paul, Kononen, Juha, Lepistö, Anna, Poussa, Tuija, Muhonen, Timo, Ålgars, Annika, Isoniemi, Helena, Osterlund, Pia, Salminen, Tapio, Soveri, Leena-Maija, Kallio, Raija, Kellokumpu, Ilmo, Lamminmäki, Annamarja, Halonen, Päivi, Ristamäki, Raija, Lantto, Eila, Uutela, Aki, Österlund, Emerik, Ovissi, Ali, Nordin, Arno, Heervä, Eetu, Lehtomäki, Kaisa, Räsänen, Jari, Murashev, Maija, Aroviita, Laura, Jekunen, Antti, Lindvall-Andersson, Renee, Nyandoto, Paul, Kononen, Juha, Lepistö, Anna, Poussa, Tuija, Muhonen, Timo, Ålgars, Annika, and Isoniemi, Helena

Abstract

Background: Resection of colorectal cancer (CRC) metastases provides good survival but is probably underused in real-world practice. Methods: A prospective Finnish nationwide study enrolled treatable metastatic CRC patients. The intervention was the assessment of resectability upfront and twice during first-line therapy by the multidisciplinary team (MDT) at Helsinki tertiary referral centre. The primary outcome was resection rates and survival. Findings: In 2012-2018, 1086 patients were included. Median follow-up was 58 months. Multiple metastatic sites were present in 500 (46%) patients at baseline and in 820 (76%) during disease trajectory. In MDT assessments, 447 (41%) were classified as resectable, 310 (29%) upfront and 137 (18%) after conversion therapy. Sixhundred and ninety curative intent resections or local ablative therapies (LAT) were performed in 399 patients (89% of 447 resectable). Multiple metastasectomies for multisite or later developing metastases were performed in 148 (37%) patients. Overall, 414 liver, 112 lung, 57 peritoneal, and 107 other metastasectomies were performed. Median OS was 80.4 months in R0/1-resected (HR 0.15; CI95% 0.12-0.19), 39.1 months in R2-resected/LAT (0.39; 0.29-0.53) patients, and 20.8 months in patients treated with "systemic therapy alone" (reference), with 5-year OS rates of 66%, 40%, and 6%, respectively. Interpretation: Repeated centralized MDT assessment in real-world metastatic CRC patients generates high resectability (41%) and resection rates (37%) with impressive survival, even when multisite metastases are present or develop later.

Published
2021
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