المؤلفون: Li, Ming, Gu, Yahong

المصدر: Molecular Genetics and Genomics. April 2015 290(2):461-469

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

المساهمون: Guided Treatment in Optimal Selected Cancer Patients (GUTS), HUS Abdominal Center, Department of Surgery, Genome-Scale Biology (GSB) Research Program, II kirurgian klinikka, ATG - Applied Tumor Genomics, Research Programs Unit, Clinicum, Department of Medical and Clinical Genetics, Dominguez-Valentin, M., Plazzer, J. -P., Sampson, J. R., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Macrae, F., Winship, I. M., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Nielsen, M., Bertario, L., Bonanni, B., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Kostner, F., Alvarez, K., Gluck, N., Katz, L., Heinimann, K., Vaccaro, C. A., Nakken, S., Hovig, E., Green, K., Lalloo, F., Hill, J., Vasen, H. F. A., Perne, C., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., Doeberitz, M. V. K., Loeffler, M., Rahner, N., Weitz, J., Steinke-Lange, V., Schmiegel, W., Vangala, D., Crosbie, E. J., Pineda, M., Navarro, M., Brunet, J., Moreira, L., Sanchez, A., Serra-Burriel, M., Mints, M., Kariv, R., Rosner, G., Pinero, T. A., Pavicic, W. H., Kalfayan, P., Ten Broeke, S. W., Mecklin, J. -P., Pylvanainen, K., Renkonen-Sinisalo, L., Lepisto, A., Peltomaki, P., Hopper, J. L., Win, A. K., Buchanan, D. D., Lindor, N. M., Gallinger, S., Marchand, L. L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Therkildsen, C., Hansen, T. V. O., Lindberg, L., Rodland, E. A., Neffa, F., Esperon, P., Tjandra, D., Moslein, G., Seppala, T. T., Moller, P.

المصدر: Journal of Clinical Medicine, 10(13):2856. MDPI AG
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Clinical Medicine, Vol 10, Iss 2856, p 2856 (2021)
Dominguez-Valentin, M, Plazzer, J P, Sampson, J R, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, I M, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, de Vos tot Nederveen Cappel, W H, Sijmons, R H, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, H F A, Perne, C, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Doeberitz, M V K, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, E J, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sánchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Piñero, T A, Pavicic, W H, Kalfayan, P, Ten Broeke, S W, Mecklin, J P, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Hopper, J L, Win, A K, Buchanan, D D, Lindor, N M, Gallinger, S, Marchand, L L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Hansen, T V O, Lindberg, L, Rødland, E A, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Seppälä, T T & Møller, P 2021, ' No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2 : A prospective lynch syndrome database study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Journal of Clinical Medicine
Dominguez-Valentin, M, Plazzer, J-P, Sampson, J R, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, I M, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, de Vos Tot Nederveen Cappel, W H, Sijmons, R H, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Lindblom, A, Valle, A D, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, H F A, Perne, C, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, E J, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sánchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Piñero, T A, Pavicic, W H, Kalfayan, P, Broeke, S W T, Mecklin, J-P, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Hopper, J L, Win, A K, Buchanan, D D, Lindor, N M, Gallinger, S, Marchand, L L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Hansen, T V O, Lindberg, L, Rødland, E A, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Seppälä, T T & Møller, P 2021, ' No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2 : A Prospective Lynch Syndrome Database Study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Evans, D G, Crosbie, E, Hill, J & et al. 2021, ' No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Volume 10
Issue 13
Journal of Clinical Medicine, 10(13). MDPI

مصطلحات موضوعية: cancer incidence, 0302 clinical medicine, Malalties hereditàries, Missense mutation, 8Q23.3, Càncer, Cancer, Genetics, 0303 health sciences, medicine.diagnostic_test, Factors de risc en les malalties, MISMATCH REPAIR GENES, MLH1, General Medicine, Penetrance, Lynch syndrome, 3. Good health, syöpägeenit, 030220 oncology & carcinogenesis, Medicine, syöpätaudit, ilmaantuvuus, Genetic diseases, congenital, hereditary, and neonatal diseases and abnormalities, missense, 11Q23.1, Risk factors in diseases, CANCER-RISK, Article, aberrant splicing, 03 medical and health sciences, AGE, medicine, Genetic predisposition, ddc:610, MSH2, Lynchin oireyhtymä, penetrance, 030304 developmental biology, Genetic testing, truncating, perinnölliset taudit, business.industry, MUTATIONS, HMSH2, nutritional and metabolic diseases, medicine.disease, digestive system diseases, 3121 General medicine, internal medicine and other clinical medicine, business

وصف الملف: application/pdf; fulltext

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76a724a577132e178f2435d01b2921fa
https://research.rug.nl/en/publications/f2566b72-3f15-4434-8fa2-7b01e2ee1c88

المؤلفون: Liesbeth Spruijt, Encarna Gomez Garcia, Maartje Nielsen, Tom van Wezel, Maran J. W. Olderode-Berends, Ewout W. Steyerberg, Hans J. J. P. Gille, Liselot P. van Hest, Juul T. Wijnen, Lisa Pagan, Manon Suerink, Sanne W. ten Broeke, Carli M. J. Tops, Theo A. M. van Os, Arjen R. Mensenkamp, B. Redeker, Tom G.W. Letteboer, Yvonne J. Vos, Fadwa A. Elsayed, Lizet E. van der Kolk, Anja Wagner

المساهمون: CCA - Cancer biology and immunology, Human genetics, Human Genetics, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Clinical Genetics

المصدر: Familial Cancer, 17(4), 507-515. Springer Netherlands
Familial Cancer, 17, 507-515
Ten Broeke, S W, Elsayed, F A, Pagan, L, Olderode-Berends, M J W, Garcia, E G, Gille, H J P, van Hest, L P, Letteboer, T G W, van der Kolk, L E, Mensenkamp, A R, van Os, T A, Spruijt, L, Redeker, B J W, Suerink, M, Vos, Y J, Wagner, A, Wijnen, J T, Steyerberg, E W, Tops, C M J, van Wezel, T & Nielsen, M 2018, ' SNP association study in PMS2-associated Lynch syndrome ', Familial Cancer, vol. 17, no. 4, pp. 507-515 . https://doi.org/10.1007/s10689-017-0061-3
Familial Cancer, 17(4), 507-515. SPRINGER
Familial Cancer
Familial cancer, 17(4), 507-515. Springer Netherlands
Familial Cancer, 17(4), 507. Springer Netherlands
Familial Cancer, 17(4), 507-515. Springer, Cham
Familial Cancer, 17(4), 507-515
Familial Cancer, 17, 4, pp. 507-515

مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Cancer Research, Genome-wide association study, Kaplan-Meier Estimate, VARIANTS, Cancer risk, 0302 clinical medicine, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Genetics(clinical), 8Q23.3, Genetics (clinical), Mismatch Repair Endonuclease PMS2, Aged, 80 and over, Hazard ratio, MLH1, Middle Aged, Lynch syndrome, 3. Good health, 030220 oncology & carcinogenesis, Female, Original Article, Colorectal Neoplasms, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Chromosomes, Human, Pair 8, Adult, Heterozygote, 11Q23.1, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, GENES, Concordance, SNP, Single-nucleotide polymorphism, MUTATION CARRIERS, Polymorphism, Single Nucleotide, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, COHORT, Allele, Aged, COLORECTAL-CANCER RISK, PMS2 MUTATIONS, Proportional hazards model, business.industry, Chromosomes, Human, Pair 11, Modifiers, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Colorectal cancer, digestive system diseases, BODY-MASS INDEX, PMS2, 030104 developmental biology, Case-Control Studies, business, Genome-Wide Association Study

وصف الملف: application/pdf; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b7f654b58d61da072c7628164449a54
https://research.vumc.nl/en/publications/3333469a-41bd-4a3f-a348-7644d0e64a7b

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