المؤلفون: Judith Balmaña, Douglas F. Easton, Adeline Cuggia, Kenneth Offit, Heli Nevanlinna, Judy Garber, Florentia Fostira, Kelly A. Metcalfe, Jana Soukupova, Carlo Tondini, Orland Diez, George Zogopoulos, James Scarth, Marketa Janatova, Tuya Pal, Mark E. Robson, James E. Redman, Laura Ottini, Patrick Concannon, Ann S.G. Lee, Åke Borg, Anders Kvist, Sandra Schneider, Valentina Silvestri, Christoph Engel, Rachel Silva-Smith, Antoine De Pauw, Tu Nguyen-Dumont, Inga Plaskocinska, Katherine L. Nathanson, Hans Ehrencrona, Susan J. Ramus, Rita K. Schmutzler, Craig Luccarini, Mitul Shah, Sophia George, Goska Leslie, Jeffrey N. Weitzel, Irene Konstantopoulou, Carl Blomqvist, William D. Foulkes, Georgia Chenevix-Trench, Marc Tischkowitz, Thomas van Overeem Hansen, Pei Sze Ng, Kathleen Claes, Ellen L. Goode, Olufunmilayo I. Olopade, Sarah M. Nielsen, Andy C. H. Lee, Melissa C. Southey, Ramunas Janavicius, Jill S. Dolinsky, Alfons Meindl, Paolo Peterlongo, Julie O. Culver, Kristiina Aittomäki, Robert Winqvist, Alison H. Trainer, Tuomas Heikkinen, Paolo Radice, David E. Goldgar, Florian Obermair, Marie E. Wood, Jonine L. Bernstein, Sook-Yee Yoon, Paul D.P. Pharoah, Christopher R. Hake, Claude Houdayer, Irene L. Andrulis, Aaron Elliott, Zaki El-Haffaf, Petra Kleiblova, Jukka S. Moilanen, Judith Hurley, Antonis C. Antoniou, Siranoush Manoukian, Fergus J. Couch, Anne-Bine Skytte, Susan L. Neuhausen, Gary Unzeitig, D. Gareth Evans, Eamonn R. Maher, John L. Hopper, Rachel McFarland, James A. G. Whitworth, Judith Penkert, Julian Barwell, Susan M. Domchek, Zdenek Kleibl, Leila Dorling, Lisa Golmard, Peter Ang, Brennan Decker, Cheng Har Yip, Nur Aishah Taib, Vilius Rudaitis, Julian Adlard, Xin Yang, Jamie Allen, Lydia Usha, Francesca Damiola, Amal Yussuf, Katri Pylkäs, Alicja Doroszuk, Eric Hahnen, Muriel A. Adank, Karen A. Pooley, Soo Hwang Teo, Kristie Bobolis, Paul A. James, Alison M. Dunning, Holly LaDuca, Stephen B. Gruber, Wendy McKinnon, Fabienne Lesueur, Lucy Side, Arto Mannermaa, Thomas P. Slavin

المساهمون: Medicum, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics

المصدر: Yang, X, Leslie, G, Doroszuk, A, Schneider, S, Allen, J, Decker, B, Dunning, A M, Redman, J, Scarth, J, Plaskocinska, I, Luccarini, C, Shah, M, Pooley, K, Dorling, L, Leei, A, Adank, M A, Adlard, J, Aittomäki, K, Andrulis, I L, Ang, P, Barwell, J, Bernstein, J L, Bobolis, K, Borg, Å, Blomqvist, C, Claes, K B M, Concannon, P, Cuggia, A, Culver, J O, Damiola, F, De Pauw, A, Diez, O, Dolinsky, J S, Domchek, S M, Engel, C, Evans, D G, Fostira, F, Garber, J, Golmard, L, Goode, E L, Gruber, S B, Hahnen, E, Hake, C, Heikkinen, T, Hurley, J E, Janavicius, R, Kleibl, Z, Kleiblova, P, Konstantopoulou, I, Kvist, A, Laduca, H, Lee, A S G, Lesueur, F, Maher, E R, Mannermaa, A, Manoukian, S, McFarland, R, McKinnon, W, Meindl, A, Metcalfe, K, Taib, N A M, Moilanen, J, Nathanson, K L, Neuhausen, S, Ng, P S, Nguyen-Dumont, T, Nielsen, S M, Obermair, F, Offit, K, Olopade, O I, Ottini, L, Penkert, J, Pylkäs, K, Radice, P, Ramus, S J, Rudaitis, V, Side, L, Silva-Smith, R, Silvestri, V, Skytte, A B, Slavin, T, Soukupova, J, Tondini, C, Trainer, A H, Unzeitig, G, Usha, L, Van Overeem Hansen, T, Whitworth, J, Wood, M, Yip, C H, Yoon, S Y, Yussuf, A, Zogopoulos, G, Goldgar, D, Hopper, J L, Chenevix-Trench, G, Pharoah, P, George, S H L, Balmaña, J, Houdayer, C, James, P, El-Haffaf, Z, Ehrencrona, H, Janatova, M, Peterlongo, P, Nevanlinna, H, Schmutzler, R, Teo, S H, Robson, M, Pal, T, Couch, F, Weitzel, J N, Elliott, A, Southey, M, Winqvist, R, Easton, D F, Foulkes, W D, Antoniou, A C & Tischkowitz, M 2020, ' Cancer risks associated with germline PALB2 pathogenic variants : An international study of 524 families ', Journal of Clinical Oncology, vol. 38, no. 7, pp. 674-685 . https://doi.org/10.1200/JCO.19.01907

مصطلحات موضوعية: 0301 basic medicine, Oncology, PENETRANCE, Cancer Research, medicine.medical_specialty, PALB2, 3122 Cancers, ASCERTAINMENT SAMPLING PROBLEM, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Breast cancer, Prostate, Internal medicine, Pancreatic cancer, HISTORY, medicine, BREAST-CANCER, business.industry, BRCA2-INTERACTING PROTEIN PALB2, Cancer, OVARIAN, medicine.disease, BRCA2, PANCREATIC-CANCER, 3. Good health, SUSCEPTIBILITY GENE-MUTATIONS, 030104 developmental biology, medicine.anatomical_structure, RESOLUTION, 030220 oncology & carcinogenesis, Palb2, pathogenic variants, cancer risk, business, Ovarian cancer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa6efd9d1ddf683873bdcb0c64763fb9
https://doi.org/10.1200/jco.19.01907

المؤلفون: Seçil Aksoy, Michael O. Woods, Heinric Williams, Bruno Buecher, Finlay A. Macrae, Lotte N. Krogh, Jay Qiu, Wan K.W. Juhari, Jan T. Lowery, Anne-Marie Gerdes, Magnus von Knebel Doeberitz, Luigi Ricciardiello, Karsten Schulmann, Jose Luis Soto, Kristina Lagerstedt-Robinson, Kiwamu Akagi, Raj Ramesar, Uffe Birk Jensen, Angel Alonso, Robert Hüneburg, Olivier Caron, Michel Longy, Jan Lubinski, Kate Green, Annabel Goodwin, D. Gareth Evans, Julie Wods, Leigha Senter, Matthew F. Kalady, Mark Clendenning, Barbara A. Leggett, Ravindran Ankathil, Swati G. Patel, Julian Barwell, Katherine M. Tucker, Grant Lee, Pascaline Berthet, Dawn M. Nixon, Sonia S. Kupfer, Naohiro Tomita, Susan Parry, Trinidad Caldés, Robert W. Haile, Edenir Inêz Palmero, Karin Alvarez, Cassandra B. Nichols, Mark A. Jenkins, N. Jewel Samadder, Loic LeMarchand, John Burn, Francisco Lopez, Rodney J. Scott, Pierre Laurent-Puig, Julie Arnold, Christina Therkildsen, Hans K. Schackert, Pilar Garre, Reinhard Buettner, Adriana Della Valle, Patricia Esperon, Wolff Schmiegel, Karl Heinimann, Inge Bernstein, Matthias Kloor, Nicoline Hoogerbrugge, Rui Manuel Reis, Fränzel J.B. Van Duijnhoven, Christoph Engel, Mohd Nizam Zahary, Sylviane Olschwang, Sapna Syngal, Valérie Bonadona, Nicholas Pachter, Matilde Navarro, Albert de la Chapelle, Beate Betz, Jukka-Pekka Mecklin, Catherine Noguès, Elena M. Stoffel, Toni T. Seppälä, Chrystelle Colas, Anneke Lucassen, Allan D. Spigelman, Youenn Drouet, Elisa J. Cops, Uri Ladabaum, Steve Thibodeau, Jeffrey N. Weitzel, Fiona Lalloo, Patrick J. Morrison, Maurizio Genuardi, Kohji Tanakaya, Patrick M. Lynch, Frederik J. Hes, William D. Foulkes, Carmen Guillén-Ponce, Jenny von Salomé, Emilia Rogoża-Janiszewska, Andrew Latchford, John L. Hopper, Carrie Snyder, Verónica Barca-Tierno, Gabriela Möslein, Lauren M. Gima, Melissa C. Southey, Paul A. James, Marion Dhooge, Claudia Perne, Steven Gallinger, Heather Hampel, Amanda B. Spurdle, Ingrid Winship, Emmanuelle Fourme, Rish K. Pai, Daniela Turchetti, Marta Pineda, Jürgen Weitz, James Hill, Daniel D. Buchanan, Carlos A. Vaccaro, Noralane M. Lindor, Rachel Pearlman, Pål Møller, Christian P. Strassburg, Jane C. Figueiredo, Aída Falcón de Vargas, Silke Zachariae, Karolin Bucksch, Joanne Ngeow, Silke Redler, Henrik Okkels, Maija R.J. Kohonen-Corish, Hans F. A. Vasen, Verena Steinke-Lange, Roselyne Guimbaud, Deepak Vangala, Isabelle Coupier, Nils Rahner, Berrin Tunca, Sanne W. Bajwa-ten Broeke, Niels de Wind, Sophie Lejeune, José Gaston Guillem, Karin Wadt, Polly A. Newcomb, Elke Holinski-Feder, Florencia Neffa, Rodrigo Santa Cruz Guindalini, Paul E. Wise, Julian R. Sampson, Graham Casey, Lene Juel Rasmussen, Rolf H. Sijmons, Tadeusz Dębniak, Ann-Sofie Backman, Joji Utsunomiya, Melyssa Aronson, Aung Ko Win, Yves-Jean Bignon, Judy W. C. Ho, Robyn L. Ward, Mev Dominguez-Valentin, Karolina Malińska, Elizabeth E. Half, John-Paul Plazzer, Marjolijn J. L. Ligtenberg, Rachel Austin, Nicola K. Poplawski, Marcia Cruz-Correa, Nagahide Matsubara, Charlotte Kvist Lautrup, Thomas Hansen, Tatsuro Yamaguchi, Thomas John, David J. Amor, Ilana Solomon, Yun-Hee Choi, Meghan J. van Wanzeele, Rakefet Shtoyerman, Vanessa Huntley, Maartje Nielsen, Deborah Neklason, Kevin J. Monahan, Gülçin Tezcan, Stefan Aretz, Talya Boisjoli, Sophie Giraud, Thierry Frebourg, Christophe Rosty, Heike Görgens, Lone Sunde, Allyson Templeton, Jacob Nattermann, Mala Pande, Joan Brunet, Nancy Uhrhammer, James M. Church, Florencia Spirandelli, Laurent Briollais, James G. Dowty, Jeanette C. Reece, Rachel Susman, Fay Kastrinos, Kirsi Pylvänäinen, Gabriel Capellá, Helène Schuster, Min H. Chew, Markus Loeffler, Christine Lasset, Michael J. Hall, Capuccine Delnatte, Floor A. Duijkers

المساهمون: Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER, Digital Precision Cancer Medicine (iCAN), ATG - Applied Tumor Genomics, HUS Abdominal Center, Clinical sciences, Medical Genetics, Win A.K., Dowty J.G., Reece J.C., Lee G., Templeton A.S., Plazzer J.-P., Buchanan D.D., Akagi K., Aksoy S., Alonso A., Alvarez K., Amor D.J., Ankathil R., Aretz S., Arnold J.L., Aronson M., Austin R., Backman A.-S., Bajwa-ten Broeke S.W., Barca-Tierno V., Barwell J., Bernstein I., Berthet P., Betz B., Bignon Y.-J., Boisjoli T., Bonadona V., Briollais L., Brunet J., Bucksch K., Buecher B., Buettner R., Burn J., Caldes T., Capella G., Caron O., Casey G., Chew M.H., Choi Y.-H., Church J., Clendenning M., Colas C., Cops E.J., Coupier I., Cruz-Correa M., de la Chapelle A., de Wind N., Debniak T., Della Valle A., Delnatte C., Dhooge M., Dominguez-Valentin M., Drouet Y., Duijkers F.A., Engel C., Esperon P., Evans D.G., Falcon de Vargas A., Figueiredo J.C., Foulkes W., Fourme E., Frebourg T., Gallinger S., Garre P., Genuardi M., Gerdes A.-M., Gima L.M., Giraud S., Goodwin A., Gorgens H., Green K., Guillem J., Guillen-Ponce C., Guimbaud R., Guindalini R.S.C., Half E.E., Hall M.J., Hampel H., Hansen T.V.O., Heinimann K., Hes F.J., Hill J., Ho J.W.C., Holinski-Feder E., Hoogerbrugge N., Huneburg R., Huntley V., James P.A., Jensen U.B., John T., Juhari W.K.W., Kalady M., Kastrinos F., Kloor M., Kohonen-Corish M.R., Krogh L.N., Kupfer S.S., Ladabaum U., Lagerstedt-Robinson K., Lalloo F., Lasset C., Latchford A., Laurent-Puig P., Lautrup C.K., Leggett B.A., Lejeune S., LeMarchand L., Ligtenberg M., Lindor N., Loeffler M., Longy M., Lopez F., Lowery J., Lubinski J., Lucassen A.M., Lynch P.M., Malinska K., Matsubara N., Mecklin J.-P., Moller P., Monahan K., Morrison P.J., Nattermann J., Navarro M., Neffa F., Neklason D., Newcomb P.A., Ngeow J., Nichols C., Nielsen M., Nixon D.M., Nogues C., Okkels H., Olschwang S., Pachter N., Pai R.K., Palmero E.I., Pande M., Parry S., Patel S.G., Pearlman R., Perne C., Pineda M., Poplawski N.K., Pylvanainen K., Qiu J., Rahner N., Ramesar R., Rasmussen L.J., Redler S., Reis R.M., Ricciardiello L., Rogoza-Janiszewska E., Rosty C., Samadder N.J., Sampson J.R., Schackert H.K., Schmiegel W., Schulmann K., Schuster H., Scott R., Senter L., Seppala T.T., Shtoyerman R., Sijmons R.H., Snyder C., Solomon I.B., Soto J.L., Southey M.C., Spigelman A., Spirandelli F., Spurdle A.B., Steinke-Lange V., Stoffel E.M., Strassburg C.P., Sunde L., Susman R., Syngal S., Tanakaya K., Tezcan G., Therkildsen C., Thibodeau S., Tomita N., Tucker K.M., Tunca B., Turchetti D., Uhrhammer N., Utsunomiya J., Vaccaro C., van Duijnhoven F.J.B., van Wanzeele M.J., Vangala D.B., Vasen H.F.A., von Knebel Doeberitz M., von Salome J., Wadt K.A.W., Ward R.L., Weitz J., Weitzel J.N., Williams H., Winship I., Wise P.E., Wods J., Woods M.O., Yamaguchi T., Zachariae S., Zahary M.N., Hopper J.L., Haile R.W., Macrae F.A., Moslein G., Jenkins M.A.

المصدر: The Lancet Oncology, 22(7), 1014-1022. ELSEVIER SCIENCE INC
International Mismatch Repair Consortium, Sunde, L E M, Lautrup, C K, Okkels, H & Bernstein, I 2021, ' Variation in the risk of colorectal cancer in families with Lynch syndrome : a retrospective cohort study ', The Lancet. Oncology, vol. 22, no. 7, pp. 1014-1022 . https://doi.org/10.1016/S1470-2045(21)00189-3
The International Mismatch Repair Consortium 2021, ' Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study ', The Lancet Oncology, vol. 22, no. 7, pp. 1014-1022 . https://doi.org/10.1016/S1470-2045(21)00189-3
Lancet Oncology
Lancet Oncology, Elsevier, 2021, 22 (7), pp.1014-1022. ⟨10.1016/S1470-2045(21)00189-3⟩
The International Mismatch Repair Consortium 2021, ' Variation in the risk of colorectal cancer in families with Lynch syndrome : a retrospective cohort study ', The Lancet Oncology, vol. 22, no. 7, pp. 1014-1022 . https://doi.org/10.1016/S1470-2045(21)00189-3
Lancet Oncology, 22, 7, pp. 1014-1022
Lancet Oncology, 22, 1014-1022

مصطلحات موضوعية: 0301 basic medicine, Proband, Oncology, Male, Heredity, DNA mismatch repair, [SDV]Life Sciences [q-bio], SUSCEPTIBILITY, Settore MED/03 - GENETICA MEDICA, 0302 clinical medicine, Residence Characteristics, Risk Factors, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], PMS2, ComputingMilieux_MISCELLANEOUS, MLH1, Age Factors, Middle Aged, Penetrance, Lynch syndrome, 3. Good health, Pedigree, Phenotype, 030220 oncology & carcinogenesis, Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis, Female, Adult, medicine.medical_specialty, PENETRANCE, congenital, hereditary, and neonatal diseases and abnormalities, GENES, 3122 Cancers, colorectal cancer, BREAST, Risk Assessment, 03 medical and health sciences, Sex Factors, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Retrospective Studies, business.industry, MUTATIONS, Cancer, medicine.disease, digestive system diseases, MSH2, MSH6, MODEL, INDIVIDUALS, 030104 developmental biology, Lynch Syndrome, Gene-Environment Interaction, business

وصف الملف: application/pdf; STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::120a2365bb20955114b7ac66956df4fe
http://hdl.handle.net/1887/3213866

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

المساهمون: HUS Abdominal Center, Clinicum, University of Helsinki, II kirurgian klinikka, Department of Surgery, Research Programs Unit, ATG - Applied Tumor Genomics, Gastroenterology and hepatology

المصدر: Engel, C, Ahadova, A, Seppälä, T T, Aretz, S, Bigirwamungu-Bargeman, M, Bläker, H, Bucksch, K, Büttner, R, de Vos tot Nederveen Cappel, W T, Endris, V, Holinski-Feder, E, Holzapfel, S, Hüneburg, R, Jacobs, M A J M, Koornstra, J J, Langers, A M, Lepistö, A, Morak, M, Möslein, G, Peltomäki, P, Pylvänäinen, K, Rahner, N, Renkonen-Sinisalo, L, Schulmann, K, Steinke-Lange, V, Stenzinger, A, Strassburg, C P, van de Meeberg, P C, van Kouwen, M, van Leerdam, M, Vangala, D B, Vecht, J, Verhulst, M L, von Knebel Doeberitz, M, Weitz, J, Zachariae, S, Loeffler, M, Mecklin, J P, Kloor, M, Vasen, H F, German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group & Finnish Lynch Syndrome Registry 2020, ' 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 ', Gastroenterology, vol. 158, no. 5, pp. 1326-1333 . https://doi.org/10.1053/j.gastro.2019.12.032
Gastroenterology, 158(5), 1326-1333. W B SAUNDERS CO-ELSEVIER INC
Gastroenterology, 158, 5, pp. 1326-1333
Gastroenterology, 158, 1326-1333
Gastroenterology, 158(5), 1326-1333. W.B. Saunders Ltd

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, Colorectal cancer, DNA Mutational Analysis, genetic analysis, HEREDITARY, cancer risk, GUIDELINES, DNA Mismatch Repair, 0302 clinical medicine, Germany, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Prospective Studies, prognostic factor, Finland, beta Catenin, Netherlands, Outcome, Prognostic Factor, Gastroenterology, Genetic Analysis, Colonoscopy, Middle Aged, CANCER, Lynch syndrome, Cancer Risk, 3. Good health, DNA-Binding Proteins, DEFICIENCY, MutS Homolog 2 Protein, syöpägeenit, outcome, 030211 gastroenterology & hepatology, DNA mismatch repair, Female, MutL Protein Homolog 1, geenitutkimus, Adenoma, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, 3122 Cancers, Adenomatous Polyposis Coli Protein, INSTABILITY, SOCIETY, MLH1, 03 medical and health sciences, Internal medicine, medicine, MANAGEMENT, Humans, Lynchin oireyhtymä, neoplasms, paksusuolisyöpä, Hepatology, business.industry, Cancer, nutritional and metabolic diseases, ennusteet, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, MSH6, 030104 developmental biology, MSH2, Mutation, business

وصف الملف: application/pdf; fulltext

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52138be8d46b60f9a9045c741c27f7e0
https://research.vumc.nl/en/publications/19a6d3f9-6a91-4d08-a678-91d7b8485e29