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2. 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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4. 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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7. 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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8. 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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9. 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

10. 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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11. 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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13. 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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14. 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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15. 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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16. 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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17. Comprehensive evaluation of coding region point mutations in microsatellite‐unstable colorectal cancer

Author

Kondelin, Johanna, Salokas, Kari, Saarinen, Lilli, Ovaska, Kristian, Rauanheimo, Heli, Plaketti, Roosa‐Maria, Hamberg, Jiri, Liu, Xiaonan, Yadav, Leena, Gylfe, Alexandra E, Cajuso, Tatiana, Hänninen, Ulrika A, Palin, Kimmo, Ristolainen, Heikki, Katainen, Riku, Kaasinen, Eevi, Tanskanen, Tomas, Aavikko, Mervi, Taipale, Minna, Taipale, Jussi, Renkonen‐Sinisalo, Laura, Lepistö, Anna, Koskensalo, Selja, Böhm, Jan, Mecklin, Jukka‐Pekka, Ongen, Halit, Dermitzakis, Emmanouil T, Kilpivaara, Outi, Vahteristo, Pia, Turunen, Mikko, Hautaniemi, Sampsa, Tuupanen, Sari, Karhu, Auli, Välimäki, Niko, Varjosalo, Markku, Pitkänen, Esa, and Aaltonen, Lauri A

Published
2018
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21. 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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23. No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

Author

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

Published
2021
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24. Distinct Mutational Profile of Lynch Syndrome Colorectal Cancers Diagnosed under Regular Colonoscopy Surveillance

Author

Ahadova, Aysel, primary, Pfuderer, Pauline Luise, additional, Ahtiainen, Maarit, additional, Ballhausen, Alexej, additional, Bohaumilitzky, Lena, additional, Kösegi, Svenja, additional, Müller, Nico, additional, Tang, Yee Lin, additional, Kosmalla, Kosima, additional, Witt, Johannes, additional, Endris, Volker, additional, Stenzinger, Albrecht, additional, von Knebel Doeberitz, Magnus, additional, Bläker, Hendrik, additional, Renkonen-Sinisalo, Laura, additional, Lepistö, Anna, additional, Böhm, Jan, additional, Mecklin, Jukka-Pekka, additional, Seppälä, Toni T., additional, and Kloor, Matthias, additional

Published
2021
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25. Mechanical bowel preparation and oral antibiotics versus mechanical bowel preparation only prior rectal surgery (MOBILE2) : A multicentre, double-blinded, randomised controlled trial—study protocol

Author

Koskenvuo, Laura, Lunkka, Pipsa, Varpe, Pirita, Hyöty, Marja, Satokari, Reetta, Haapamäki, Carola, Lepistö, Anna, Sallinen, Ville, Tampere University, Department of Gastroenterology, HUS Abdominal Center, II kirurgian klinikka, Department of Surgery, University of Helsinki, Faculty of Medicine, Reetta Maria Satokari / Principal Investigator, HUMI - Human Microbiome Research, Clinicum, Pertti Panula / Principal Investigator, and Department of Anatomy

Subjects
COMPLICATIONS, Colon, Rectum, Gastroenterology and Hepatology, ELECTIVE COLON SURGERY, 3126 Surgery, anesthesiology, intensive care, radiology, Anti-Bacterial Agents, surgery, gastrointestinal tumours, Preoperative Care, Humans, Multicenter Studies as Topic, Surgical Wound Infection, Medicine, colorectal surgery, Randomized Controlled Trials as Topic, Retrospective Studies
Abstract

Introduction Mechanical bowel preparation (MBP) prior to rectal surgery is widely used. Based on retrospective data many guidelines recommend mechanical and oral antibiotic bowel preparation (MOABP) to reduce postoperative complications and specifically surgical site infections (SSIs). The primary aim of this study is to examine whether MOABP reduces complications of rectal surgery. Methods and analysis The MOBILE2 (Mechanical Bowel Preparation and Oral Antibiotics vs Mechanical Bowel Preparation Only Prior Rectal Surgery) trial is a multicentre, double-blinded, parallel group, superiority, randomised controlled trial comparing MOABP to MBP among patients scheduled for rectal surgery with colorectal or coloanal anastomosis. The patients randomised to the MOABP group receive 1 g neomycin and 1 g metronidazole two times on a day prior to surgery and patients randomised to the MBP group receive identical placebo. Based on power calculations, 604 patients will be enrolled in the study. The primary outcome is Comprehensive Complication Index within 30 days after surgery. Secondary outcomes are SSIs within 30 days after surgery, the number and classification of anastomosis dehiscences, the length of hospital stay, mortality within 90 days after surgery and the number of patients who received adjuvant treatment if needed. Tertiary outcomes are overall survival, disease-specific survival, recurrence-free survival and difference in quality-of-life before and 1 year after surgery. In addition, the microbiota differences in colon mucosa are analysed. Ethics and dissemination The Ethics Committee of Helsinki University Hospital approved the study. The findings will be disseminated in peer-reviewed academic journals. Trial registration number NCT04281667.

Published
2021

26. 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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27. No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

Author

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

Abstract

Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the MLH1 and MSH2 genes. Methods. Carriers of pathogenic variants of MLH1 (path_MLH1) and MSH2 (path_MSH2) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of path MLH1 and path_MSH2.

Published
2021

28. Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants:a Prospective Lynch Syndrome Database report

Author

Seppälä, Toni T., Dominguez-Valentin, Mev, Crosbie, Emma J., Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Thomas, Huw, Hovig, Eivind, Nielsen, Maartje, Sijmons, Rolf H., Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria G., Cavestro, Giulia M., 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, Vida, Joan B., Kariv, Revital, Rosner, Guy, Piñero, Tamara A., Pavicic, Walter, Kalfayan, Pablo, 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, Redler, Silke, Weitz, Jürgen, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Hopper, John L., Win, Aung K., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Wadt, Karin A.W., Mourits, Marian J.E., Ketabi, Zohreh, Denton, Oliver G., Rødland, Einar A., Vasen, Hans, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Rokkones, Erik, Sampson, Julian R., Evans, D. G., Møller, Pål, Seppälä, Toni T., Dominguez-Valentin, Mev, Crosbie, Emma J., Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Thomas, Huw, Hovig, Eivind, Nielsen, Maartje, Sijmons, Rolf H., Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria G., Cavestro, Giulia M., 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, Vida, Joan B., Kariv, Revital, Rosner, Guy, Piñero, Tamara A., Pavicic, Walter, Kalfayan, Pablo, 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, Redler, Silke, Weitz, Jürgen, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Hopper, John L., Win, Aung K., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Wadt, Karin A.W., Mourits, Marian J.E., Ketabi, Zohreh, Denton, Oliver G., Rødland, Einar A., Vasen, Hans, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Rokkones, Erik, Sampson, Julian R., Evans, D. G., and Møller, Pål

Abstract

Purpose: This study aimed to report the uptake of hysterectomy and/or bilateral salpingo-oophorectomy (BSO) to prevent gynaecological cancers (risk-reducing surgery [RRS]) in carriers of pathogenic MMR (path_MMR) variants. Methods: The Prospective Lynch Syndrome Database (PLSD) was used to investigate RRS by a cross-sectional study in 2292 female path_MMR carriers aged 30–69 years. Results: Overall, 144, 79, and 517 carriers underwent risk-reducing hysterectomy, BSO, or both combined, respectively. Two-thirds of procedures before 50 years of age were combined hysterectomy and BSO, and 81% of all procedures included BSO. Risk-reducing hysterectomy was performed before age 50 years in 28%, 25%, 15%, and 9%, and BSO in 26%, 25%, 14% and 13% of path_MLH1, path_MSH2, path_MSH6, and path_PMS2 carriers, respectively. Before 50 years of age, 107 of 188 (57%) BSO and 126 of 204 (62%) hysterectomies were performed in women without any prior cancer, and only 5% (20/392) were performed simultaneously with colorectal cancer (CRC) surgery. Conclusion: Uptake of RRS before 50 years of age was low, and RRS was rarely undertaken in association with surgical treatment of CRC. Uptake of RRS aligned poorly with gene- and age-associated risk estimates for endometrial or ovarian cancer that were published recently from PLSD and did not correspond well with current clinical guidelines. The reasons should be clarified. Decision-making on opting for or against RRS and its timing should be better aligned with predicted risk and mortality for endometrial and ovarian cancer in Lynch syndrome to improve outcomes.

Published
2021

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

Published
2021
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31. Familiaalinen adenomatoottinen polypoosi (FAP)

Author

Koskenvuo, Laura, Pöyhönen, Minna, Lepistö, Anna, Kirurgian osasto, Clinicum, II kirurgian klinikka, HUS Vatsakeskus, Lääketieteellisen genetiikan ja perinnöllisyyslääketieteen osasto, HUSLAB, Minna Pöyhönen / Vastuullinen tutkija, Helsingin yliopisto, and Tutkimusohjelmayksikkö

Subjects
Genes, APC, Colon, Duodenum, +diagnosis, Genetic Counseling, Fibroma, +physiopathology, 1184 Genetiikka, kehitysbiologia, fysiologia, 3121 Yleislääketiede, sisätaudit ja muut kliiniset lääketieteet, Neoplasms, +complications, Mass Screening, +prevention & control, Intestine, Large, Duodenoscopy, Colectomy, 3126 Kirurgia, anestesiologia, tehohoito, radiologia, +genetics, Osteoma, Colonoscopy, Prophylactic Surgical Procedures, Prognosis, +pathology, Adenomatous Polyposis Coli, +therapy, Colonic Neoplasms, Mutation, +surgery
Abstract

English summary. Vertaisarvioitu

Published
2020

35. Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome

Author

Engel, Christoph, primary, Ahadova, Aysel, additional, Seppälä, Toni T., additional, Aretz, Stefan, additional, Bigirwamungu-Bargeman, Marloes, additional, Bläker, Hendrik, additional, Bucksch, Karolin, additional, Büttner, Reinhard, additional, de Vos tot Nederveen Cappel, Wouter T., additional, Endris, Volker, additional, Holinski-Feder, Elke, additional, Holzapfel, Stefanie, additional, Hüneburg, Robert, additional, Jacobs, Maarten A.J.M., additional, Koornstra, Jan J., additional, Langers, Alexandra M., additional, Lepistö, Anna, additional, Morak, Monika, additional, Möslein, Gabriela, additional, Peltomäki, Päivi, additional, Pylvänäinen, Kirsi, additional, Rahner, Nils, additional, Renkonen-Sinisalo, Laura, additional, Schulmann, Karsten, additional, Steinke-Lange, Verena, additional, Stenzinger, Albrecht, additional, Strassburg, Christian P., additional, van de Meeberg, Paul C., additional, van Kouwen, Mariette, additional, van Leerdam, Monique, additional, Vangala, Deepak B., additional, Vecht, Juda, additional, Verhulst, Marie-Louise, additional, von Knebel Doeberitz, Magnus, additional, Weitz, Jürgen, additional, Zachariae, Silke, additional, Loeffler, Markus, additional, Mecklin, Jukka-Pekka, additional, Kloor, Matthias, additional, and Vasen, Hans F., additional

Published
2020
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36. Association analyses identify 31 new risk loci for colorectal cancer susceptibility

Author

PRACTICAL Consortium, Law, Philip J., Timofeeva, Maria, Fernandez-Rozadilla, Ceres, Palin, Kimmo, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Eriksson, Johan G., Jousilahti, Pekka, Ripatti, Samuli, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Aaltonen, Lauri A., Rissanen, Harri, Salomaa, Veikko, Böhm, Jan, Mecklin, Jukka-Pekka, Pukkala, Eero, Lauri Antti Aaltonen / Principal Investigator, Genome-Scale Biology (GSB) Research Program, Research Programs Unit, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, CAN-PRO - Translational Cancer Medicine Program, Doctoral Programme in Biomedicine, Institute for Molecular Medicine Finland, Johan Eriksson / Principal Investigator, Department of General Practice and Primary Health Care, Clinicum, Centre of Excellence in Complex Disease Genetics, Department of Public Health, Samuli Olli Ripatti / Principal Investigator, Biostatistics Helsinki, Aarno Palotie / Principal Investigator, Department of Surgery, II kirurgian klinikka, HUS Abdominal Center, Complex Disease Genetics, and Genomics of Neurological and Neuropsychiatric Disorders

Subjects
CHROMATIN, IDENTIFICATION, HERITABILITY, COHORT PROFILE, IMPUTATION, 1184 Genetics, developmental biology, physiology, TRANSCRIPTION FACTOR-BINDING, GWAS, 3111 Biomedicine, GENOME-WIDE ASSOCIATION, neoplasms, digestive system diseases, METAANALYSIS
Abstract

Colorectal cancer (CRC) is a leading cause of cancer-related death worldwide, and has a strong heritable basis. We report a genome-wide association analysis of 34,627 CRC cases and 71,379 controls of European ancestry that identifies SNPs at 31 new CRC risk loci. We also identify eight independent risk SNPs at the new and previously reported European CRC loci, and a further nine CRC SNPs at loci previously only identified in Asian populations. We use in situ promoter capture Hi-C (CHi-C), gene expression, and in silico annotation methods to identify likely target genes of CRC SNPs. Whilst these new SNP associations implicate target genes that are enriched for known CRC pathways such as Wnt and BMP, they also highlight novel pathways with no prior links to colorectal tumourigenesis. These findings provide further insight into CRC susceptibility and enhance the prospects of applying genetic risk scores to personalised screening and prevention.

Published
2019

37. Lynchin oireyhtymä ei lisää rintasyövän riskiä

Author

Seppälä, Toni, Renkonen-Sinisalo, Laura, Lepistö, Anna, Clinicum, II kirurgian klinikka, Kirurgian osasto, and HUS Vatsakeskus

Subjects
1184 Genetiikka, kehitysbiologia, fysiologia, 3122 Syöpätaudit, +genetics, Breast Neoplasms, Genetic Predisposition to Disease, Lynch Syndrome II
Published
2019

38. 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, Lindskog, Elinor Bexe, Tönisson, 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

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

Published
2018

39. Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

Author

Olkinuora, Alisa, primary, Nieminen, Taina T., additional, Mårtensson, Emma, additional, Rohlin, Anna, additional, Ristimäki, Ari, additional, Koskenvuo, Laura, additional, Lepistö, Anna, additional, Gebre-Medhin, Samuel, additional, Nordling, Margareta, additional, Peltomäki, Päivi, additional, Silander, Gustav, additional, Kuchinskaya, Ekaterina, additional, Aravidis, Christos, additional, Zagoras, Theofanis, additional, Nilbert, Mef, additional, and Borg, Åke, additional

Published
2019
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40. Exome and immune cell score analyses reveal great variation within synchronous primary colorectal cancers

Author

Hänninen, Ulrika A., primary, Wirta, Erkki-Ville, additional, Katainen, Riku, additional, Tanskanen, Tomas, additional, Hamberg, Jiri, additional, Taipale, Minna, additional, Böhm, Jan, additional, Renkonen-Sinisalo, Laura, additional, Lepistö, Anna, additional, Forsström, Linda M., additional, Pitkänen, Esa, additional, Palin, Kimmo, additional, Seppälä, Toni T., additional, Mäkinen, Netta, additional, Mecklin, Jukka-Pekka, additional, and Aaltonen, Lauri A., additional

Published
2019
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41. DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression

Author

Mäki-Nevala, Satu, primary, Valo, Satu, additional, Ristimäki, Ari, additional, Sarhadi, Virinder, additional, Knuutila, Sakari, additional, Nyström, Minna, additional, Renkonen-Sinisalo, Laura, additional, Lepistö, Anna, additional, Mecklin, Jukka-Pekka, additional, and Peltomäki, Päivi, additional

Published
2019
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42. Altered linkage pattern of N-glycan sialic acids in pseudomyxoma peritonei.

Author

Nummela, Pirjo, Heiskanen, Annamari, Kytölä, Soili, Haglund, Caj, Lepistö, Anna, Satomaa, Tero, and Ristimäki, Ari

Subjects
SIALIC acids, APPENDIX (Anatomy), GLYCANS, MUCINOUS adenocarcinoma, FUCOSYLATION, PERITONEUM, MASS spectrometry
Abstract

Pseudomyxoma peritonei (PMP) is a highly mucinous adenocarcinoma growing in the peritoneal cavity and most commonly originating from the appendix. Glycans play an important role in carcinogenesis, and glycosylation is altered in malignant diseases, including PMP. We have previously demonstrated that fucosylation of N-glycans is increased in PMP, but we did not observe modulation of overall sialylation. As sialic acids can be attached to the rest of the glycan via α2,3- or α2,6-linkage, we have now analyzed the linkage patterns of sialic acids in tissue specimens of normal appendices, low-grade appendiceal mucinous neoplasms (LAMN), low-grade (LG) PMP and high-grade (HG) PMP. For the linkage analysis, the enzymatically released acidic N-glycans were first treated with ethyl esterification or α2,3-sialidase digestion followed by MALDI-TOF mass spectrometry. Significant increase in the relative abundance of α2,6-sialylated and decrease in α2,3-sialylated N-glycans was observed in PMP tumors as compared to the normal appendices (P  < 0.025). More specifically, increased α2,6-sialylation (P  < 0.05) and decreased α2,3-sialylation (P  < 0.01) were detected in afucosylated and monofucosylated N-glycans of PMPs, whereas the less abundant multifucosylated glycans, containing terminal fucose, demonstrated increased α2,3-sialylation (P  < 0.01). Importantly, the increase in α2,6-sialylation was also detected between PMP and the appendiceal precursor lesion LAMN (P  < 0.01). The identified glycosylation alterations produce ligands for sialic acid-binding immunoglobulin-like lectins (Siglecs) and sialofucosylated glycans binding selectins, which play a role in the peritoneal dissemination and progression of the disease. [ABSTRACT FROM AUTHOR]

Published
2021
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43. 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., Houlston, Richard S., Research Programs Unit, Lauri Antti Aaltonen / Principal Investigator, Genome-Scale Biology (GSB) Research Program, University of Helsinki, Medicum, Department of Medical and Clinical Genetics, Institute for Molecular Medicine Finland, Clinicum, Johan Eriksson / Principal Investigator, Department of General Practice and Primary Health Care, Samuli Olli Ripatti / Principal Investigator, Biostatistics Helsinki, Department of Public Health, Aarno Palotie / Principal Investigator, Department of Surgery, II kirurgian klinikka, HUS Abdominal Center, Complex Disease Genetics, and Genomics of Neurological and Neuropsychiatric Disorders

Subjects
EXPRESSION, Risk, OLIVE-OIL, PROSTAGLANDIN E-2, 3122 Cancers, Diet, Mediterranean, Polymorphism, Single Nucleotide, Risk Assessment, DISEASE, White People, Article, Risk Factors, Plasma fatty acids, Mendelian randomization, Biomarkers, Tumor, Odds Ratio, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, Fatty acids, Mendelian randomisation, AGING RESEARCH, Fatty Acids, CONSORTIUM, LINOLEIC-ACID, COHORTS, Mendelian Randomization Analysis, Protective Factors, Colorectal cancer, GENOTYPE, Diet, colorectal ancer, Phenotype, Case-Control Studies, Gene-Environment Interaction, 3111 Biomedicine, Diet, Healthy, Inflammation Mediators, Colorectal Neoplasms, Risk Reduction Behavior, Genome-Wide Association Study
Abstract

Background: While dietary fat has been established as a risk factor for colorectal cancer (CRC), associations between fatty acids (FAs) and CRC have been inconsistent. Using Mendelian randomisation (MR), we sought to evaluate associations between polyunsaturated (PUFA), monounsaturated (MUFA) and saturated FAs (SFAs) and CRC risk. Methods: We analysed genotype data on 9254 CRC cases and 18,386 controls of European ancestry. Externally weighted polygenic risk scores were generated and used to evaluate associations with CRC per one standard deviation increase in genetically defined plasma FA levels. Results: Risk reduction was observed for oleic and palmitoleic MUFAs (OROA = 0.77, 95% CI: 0.65-0.92, P = 3.9 x 10(-3); ORPOA = 0.36, 95% CI: 0.15-0.84, P = 0.018). PUFAs linoleic and arachidonic acid had negative and positive associations with CRC respectively (ORLA = 0.95, 95% CI: 0.93-0.98, P = 3.7 x 10(-4); ORAA = 1.05, 95% CI: 1.02-1.07, P Z 1.7 x 10(-4)). The SFA stearic acid was associated with increased CRC risk (ORSA Z 1.17, 95% CI: 1.01-1.35, P = 0.041). Conclusion: Results from our analysis are broadly consistent with a pro-inflammatory FA profile having a detrimental effect in terms of CRC risk. (C) 2017 The Authors. Published by Elsevier Ltd.

Published
2017

48. Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

Author

Jarvis, David, primary, Mitchell, Jonathan S, additional, Law, Philip J, 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, Kaprio, Jaakko, additional, Eriksson, Johan G, additional, Rissanen, Harri, additional, Knekt, Paul, 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, Meklin, 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, 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, Steve, additional, Conti, David, additional, Schumacher, Fred, additional, Casey, Graham, additional, Taipale, Jussi, additional, Aaltonen, Lauri A, additional, Cheadle, Jeremy P, additional, Dunlop, Malcolm G, additional, Tomlinson, Ian P, additional, and Houlston, Richard S, additional

Published
2016
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49. Variation at 2q35 (PNKDandTMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

Author

Orlando, Giulia, primary, Law, Philip J., 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, Kaprio, Jaakko, additional, Eriksson, Johan G., additional, Rissanen, Harri, additional, Knekt, Paul, 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, 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, Buchanan, Daniel D., additional, Ko Win, Aung, additional, Hopper, John, additional, Jenkins, Mark, additional, Lindor, Noralane M., additional, Newcomb, Polly A., additional, Gallinger, Steve, additional, Conti, David, additional, Schumacher, Fred, additional, Casey, Graham, additional, Taipale, Jussi, additional, Cheadle, Jeremy P., additional, Dunlop, Malcolm G., additional, Tomlinson, Ian P., additional, Aaltonen, Lauri A., additional, and Houlston, Richard S., additional

Published
2016
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50. Duodenal surveillance improves the prognosis after duodenal cancer in familial adenomatous polyposis

Author

Bülow, Steffen, Christensen, Ib Jarle, Højen, Helle, Björk, Jan, Elmberg, Maria, Järvinen, Heikki, Lepistö, Anna, Nieuwenhuis, Marry, Vasen, Hans, Bülow, Steffen, Christensen, Ib Jarle, Højen, Helle, Björk, Jan, Elmberg, Maria, Järvinen, Heikki, Lepistö, Anna, Nieuwenhuis, Marry, and Vasen, Hans

Abstract

Background and aim: Duodenal adenomatosis in FAP results in a cancer risk that increases with age. Endoscopic surveillance has been recommended, but the effect has not yet been documented. The aim of this study is to present results of long-term duodenal surveillance and to evaluate the risk of cancer development. Method: Follow-up of patients in a previous study with gastroduodenoscopy in 1990-2010. Statistical analysis included chi(2) test, actuarial method and Kaplan-Meier analysis. Results: Among 304 patients, 261 (86%) had more than one endoscopy. The median follow-up was 14 years (interquartile range 9-17). The cumulative lifetime risk of duodenal adenomatosis was 88% (95% CI 84-93), and of Spigelman stage IV 35% (95% CI 25-45). The Spigelman stage improved in 32 (12%), remained unchanged in 88 (34%) and worsened in 116 (44%). Twenty patients (7%) had duodenal cancer at a median age of 56 years (range 44-82). The cumulative cancer incidence was 18% at age 75 (95% CI 8-28) and increased with increasing Spigelman stage at the index endoscopy to 33% in stage IV (p

Published
2012

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