Correction:Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
| العنوان: | Correction:Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database |
|---|---|
| المؤلفون: | Gabriel Capellá, Patricia Esperon, Christoph Engel, Rolf H. Sijmons, María Laura Gonzalez, Matilde Navarro, Francisco López-Köstner, Julian R. Sampson, Miquel Serra-Burriel, Karin Alvarez, Ingrid Winship, Nathan Gluck, Lone Sunde, Reinhard Büttner, Giulia Martina Cavestro, Wouter H. de Vos tot Nederveen Cappel, Jukka-Pekka Mecklin, Marc S. Greenblatt, Kate Green, Robert Hüneburg, Markus Loeffler, Maria Grazia Tibiletti, Tamara Alejandra Piñero, Florencia Neffa, Lucio Bertario, Ariadna Sánchez, Verena Steinke-Lange, Christina Therkildsen, Jane C. Figueiredo, Douglas Tjandra, Magnus von Knebel Doeberitz, Lior H. Katz, Steven Gallinger, Noralane M. Lindor, Gabriela Möslein, Adriana Della Valle, John L. Hopper, Einar Andreas Rødland, Miriam Mints, Annika Lindblom, Ian M. Frayling, Polly A. Newcomb, Pål Møller, Sanne W. ten Broeke, Laura Renkonen-Sinisalo, Sigve Nakken, Stefanie Holzapfel, Finlay A. Macrae, Stefan Aretz, Nils Rahner, Karin Wadt, Robert W. Haile, Francesc Balaguer, Revital Kariv, Stephen N. Thibodeau, Huw D. Thomas, Emma J Crosbie, Deepak Vangala, Monika Morak, Ignacio Blanco, Hans K. Schackert, Henrik Okkels, Mev Dominguez-Valentin, Oliver G. Denton, John-Paul Plazzer, Zohreh Ketabi, James Hill, Loic Le Marchand, Mark A. Jenkins, Inge Bernstein, D. Gareth Evans, Heike Görgens, Marta Pineda, John Burn, Kirsi Pylvänäinen, Eivind Hovig, Hans F. A. Vasen, Pablo Kalfayan, Toni T. Seppälä, Aung Ko Win, Maartje Nielsen, Wolff Schmiegel, Guy Rosner, Karl Heinimann, Fiona Lalloo, Carlos A. Vaccaro, Elke Holinski-Feder, Leticia Moreira |
| المساهمون: | HUS Abdominal Center, Clinicum, II kirurgian klinikka, University of Helsinki, Department of Surgery, ATG - Applied Tumor Genomics, Research Programs Unit, Dominguez-Valentin, M., Sampson, J. R., Seppala, T. T., ten Broeke, S. W., Plazzer, J. -P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Kostner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., Knebel Doeberitz, M., Loeffler, M., Rahner, N., Schackert, H. K., Steinke-Lange, V., Schmiegel, W., Vangala, D., Pylvanainen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Wadt, K., Therkildsen, C., Okkels, H., Ketabi, Z., Moreira, L., Sanchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Frayling, I. M., Rodland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Moslein, G., Mecklin, J. -P., Nielsen, M., Moller, P., Guided Treatment in Optimal Selected Cancer Patients (GUTS) |
| المصدر: | Dominguez-Valentin, M, Sampson, J R, Seppälä, T T, Ten Broeke, S W, Plazzer, J-P, Nakken, S, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, Hovig, E, de Vos Tot Nederveen Cappel, W H, Sijmons, R H, Bertario, L, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Köstner, F, Gluck, N, Katz, L H, Heinimann, K, Vaccaro, C A, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Knebel Doeberitz, M V, Loeffler, M, Rahner, N, Schackert, H K, Steinke-Lange, V, Schmiegel, W, Vangala, D, Pylvänäinen, K, Renkonen-Sinisalo, L, Hopper, J L, Win, A K, Haile, R W, Lindor, N M & Okkels, H 2020, ' Correction : Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database ', Genetics in Medicine, vol. 22, no. 9 . https://doi.org/10.1038/s41436-020-0892-4Test Dominguez-Valentin, M, Sampson, J R, Seppälä, T T, Ten Broeke, S W, Plazzer, J-P, Nakken, S, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, Hovig, E, de Vos Tot Nederveen Cappel, W H, Sijmons, R H, Bertario, L, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Köstner, F, Gluck, N, Katz, L H, Heinimann, K, Vaccaro, C A, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Knebel Doeberitz, M V, Loeffler, M, Rahner, N, Schackert, H K, Steinke-Lange, V, Schmiegel, W, Vangala, D, Pylvänäinen, K, Renkonen-Sinisalo, L, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Wadt, K, Therkildsen, C, Okkels, H, Ketabi, Z, Moreira, L, Sánchez, A, Serra-Burriel, M, Pineda, M, Navarro, M, Blanco, I, Green, K, Lalloo, F, Crosbie, E J, Hill, J, Denton, O G, Frayling, I M, Rødland, E A, Vasen, H, Mints, M, Neffa, F, Esperon, P, Alvarez, K, Kariv, R, Rosner, G, Pinero, T A, Gonzalez, M L, Kalfayan, P, Tjandra, D, Winship, I M, Macrae, F, Möslein, G, Mecklin, J-P, Nielsen, M & Møller, P 2020, ' Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants : findings from the Prospective Lynch Syndrome Database ', Genetics in Medicine, vol. 22, no. 1, pp. 15-25 . https://doi.org/10.1038/s41436-019-0596-9Test Dipòsit Digital de la UB Universidad de Barcelona Evans, D G, Crosbie, E, Hill, J & et al. 2019, ' Cancer risks by gene, age and gender in 6,350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0596-9Test Genetics in Medicine, 22(1), 15-25. NATURE PUBLISHING GROUP Genetics in Medicine Dominguez-Valentin, M, Sampson, J R, Seppälä, T T, ten Broeke, S W, Plazzer, J P, Nakken, S, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, Hovig, E, de Vos tot Nederveen Cappel, W H, Sijmons, R H, Bertario, L, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Köstner, F, Gluck, N, Katz, L H, Heinimann, K, Vaccaro, C A, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Knebel Doeberitz, M V, Loeffler, M, Rahner, N, Schackert, H K, Steinke-Lange, V, Schmiegel, W, Vangala, D, Pylvänäinen, K, Renkonen-Sinisalo, L, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Wadt, K, Therkildsen, C, Okkels, H, Ketabi, Z, Moreira, L, Sánchez, A, Serra-Burriel, M, Pineda, M, Navarro, M, Blanco, I, Green, K, Lalloo, F, Crosbie, E J, Hill, J, Denton, O G, Frayling, I M, Rødland, E A, Vasen, H, Mints, M, Neffa, F, Esperon, P, Alvarez, K, Kariv, R, Rosner, G, Pinero, T A, Gonzalez, M L, Kalfayan, P, Tjandra, D, Winship, I M, Macrae, F, Möslein, G, Mecklin, J P, Nielsen, M & Møller, P 2020, ' Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants : findings from the Prospective Lynch Syndrome Database ', Genetics in Medicine, vol. 22, no. 1, pp. 15-25 . https://doi.org/10.1038/s41436-019-0596-9Test Genetics in Medicine, 22(1), 15-25. Nature Publishing Group |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Oncology, Male, Colorectal cancer, Lynch syndrome, Penetrance, DNA Mismatch Repair, 0302 clinical medicine, Databases, Genetic, Malalties hereditàries, Prospective Studies, Càncer, PMS2, Genetics (clinical), Mismatch Repair Endonuclease PMS2, Cancer, 0303 health sciences, Sex Characteristics, Factors de risc en les malalties, 1184 Genetics, developmental biology, physiology, MLH1, Middle Aged, 16. Peace & justice, 3. Good health, DNA-Binding Proteins, MutS Homolog 2 Protein, syöpägeenit, MSH2, 030220 oncology & carcinogenesis, MSH6, 030211 gastroenterology & hepatology, DNA mismatch repair, Female, geneettiset tekijät, MutL Protein Homolog 1, Genetic diseases, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Risk factors in diseases, suolistosyövät, MUTATION CARRIERS, Risk Assessment, Article, sukupuoli, Age and gender, 03 medical and health sciences, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Lynchin oireyhtymä, Gene, 030304 developmental biology, Aged, business.industry, Endometrial cancer, Correction, nutritional and metabolic diseases, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Survival Analysis, digestive system diseases, Mutation, 3111 Biomedicine, ikä, business, Ovarian cancer |
| الوصف: | Lynch syndrome (LS) results from pathogenic variants in the mismatch repair (MMR) genes and is the most common hereditary cancer syndrome, affecting an estimated 1 in 300 individuals. Pathogenic variants in each of the MMR genes path_MLH1, path_MSH2, path_MSH6, and path_PMS2 result in different risks for cancers in organs including the colorectum, endometrium, ovaries, stomach, small bowel, bile duct, pancreas, and upper urinary tract. Accurate estimates of these risks are essential for planning appropriate approaches to the prevention or early diagnosis of cancers but the robustness of previous studies has been limited by factors including retrospective design,1,2 lack of validation in independent cohorts,3-5 and inconsistent classification of genetic variants. Unexpected findings from previous studies have included path_MLH1 and path_MSH2 carriers appearing to have a lifetime risk of colorectal cancer (CRC) of approximately 50%, despite surveillance colonoscopy,6-8 and that shorter intervals between colonoscopies do not seem to reduce the incidence of CRC in LS.9,10 These findings challenge the assumptions that CRC in LS usually develops from a noninfiltrative adenoma precursor and that CRC can be prevented by colonoscopic detection and removal of adenomas in the colon and rectum. Additionally, previous studies in the Prospective Lynch Syndrome Database (PLSD) have shown no increase in cancer risk in path_PMS2 carriers before 40 years of age and, although observation years were limited in older path_PMS2 carriers, LS-associated cancers other than endometrial and prostate were not observed.6-8 In this study we collected prospective data from a new large cohort of path_MMR carriers to validate previous findings from PLSD. We also updated information on the original cohort to ensure consistent classification of pathogenicity of MMR gene variants. We then combined both data sets, providing larger numbers that allowed us to derive more precise risk estimates for cancers in LS categorized by gene and gender. |
| وصف الملف: | application/pdf; fulltext |
| اللغة: | English |
| تدمد: | 1098-3600 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::347fa11199294fa0eb757b6ff6ba0788Test https://vbn.aau.dk/ws/files/394936730/Correction_Dominguez_Valentin_et_al._2020_.pdfTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....347fa11199294fa0eb757b6ff6ba0788 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10983600 |
|---|