المؤلفون: 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

مصطلحات موضوعية: MLH1, MSH2, penetrance, cancer incidence, truncating, missense, aberrant splicing, Lynch syndrome, info:eu-repo/classification/ddc/610, ddc:610

Relation: 2856

الاتاحة: https://ul.qucosa.de/id/qucosa%3A85197
https://ul.qucosa.de/api/qucosa%3A85197/attachment/ATT-0/

المؤلفون: Zaffaroni, Gloria, Mannucci, Alessandro, Koskenvuo, Laura, de Lacy, Borja, Maffioli, Anna, Bisseling, Tanya, Half, Elizabeth, Cavestro, Giulia Martina, Valle, Laura, Ryan, Neil, Aretz, Stefan, Brown, Karen, Buttitta, Francesco, Carneiro, Fatima, Claber, Oonagh, Blanco-Colino, Ruth, Collard, Maxime, Crosbie, Emma, Cunha, Miguel, Doulias, Triantafyllos, Fleming, Christina, Heinrich, Henriette, Hüneburg, Robert, Metras, Julie, Nagtegaal, Iris, Negoi, Ionut, Nielsen, Maartje, Pellino, Gianluca, Ricciardiello, Luigi, Sagir, Abdurrahman, Sánchez-Guillén, Luis, Seppälä, Toni T, Siersema, Peter, Striebeck, Benedikt, Sampson, Julian R, Latchford, Andrew, Parc, Yann, Burn, John, Möslein, Gabriela

المساهمون: Zaffaroni, Gloria, Mannucci, Alessandro, Koskenvuo, Laura, de Lacy, Borja, Maffioli, Anna, Bisseling, Tanya, Half, Elizabeth, Cavestro, Giulia Martina, Valle, Laura, Ryan, Neil, Aretz, Stefan, Brown, Karen, Buttitta, Francesco, Carneiro, Fatima, Claber, Oonagh, Blanco-Colino, Ruth, Collard, Maxime, Crosbie, Emma, Cunha, Miguel, Doulias, Triantafyllo, Fleming, Christina, Heinrich, Henriette, Hüneburg, Robert, Metras, Julie, Nagtegaal, Iri, Negoi, Ionut, Nielsen, Maartje, Pellino, Gianluca, Ricciardiello, Luigi, Sagir, Abdurrahman, Sánchez-Guillén, Lui, Seppälä, Toni T, Siersema, Peter, Striebeck, Benedikt, Sampson, Julian R, Latchford, Andrew, Parc, Yann, Burn, John, Möslein, Gabriela

Relation: info:eu-repo/semantics/altIdentifier/pmid/38722804; info:eu-repo/semantics/altIdentifier/wos/WOS:001216434800002; volume:111; issue:5; numberofpages:71; journal:BRITISH JOURNAL OF SURGERY; https://hdl.handle.net/20.500.11768/168461; https://academic.oup.com/bjs/article/111/5/znae070/7667705?login=true

الاتاحة: https://hdl.handle.net/20.500.11768/168461
https://doi.org/10.1093/bjs/znae070
https://academic.oup.com/bjs/article/111/5/znae070/7667705?login=true

المؤلفون: Schubert, Stephanie A., Ruano, Dina, Joruiz, Sebastien M., Stroosma, Jordy, Glavak, Nikolina, Montali, Anna, Pinto, Lia, Rodríguez-Girondo, Mar, Barge-Schaapveld, Daniela Q. C. M., Nielsen, Maartje, van Nesselrooij, Bernadette P. M., Mensenkamp, Arjen R., van Leerdam, Monique E., Sharp, Thomas H., Morreau, Hans, Bourdon, Jean-Christophe, de Miranda, Noel F. C. C., van Wezel, Tom

المصدر: Schubert , S A , Ruano , D , Joruiz , S M , Stroosma , J , Glavak , N , Montali , A , Pinto , L , Rodríguez-Girondo , M , Barge-Schaapveld , D Q C M , Nielsen , M , van Nesselrooij , B P M , Mensenkamp , A R , van Leerdam , M E , Sharp , T H , Morreau , H , Bourdon , J-C , de Miranda , N F C C & van Wezel , T 2024 , ' Germline variant affecting p53β isoforms predisposes to familial ....

وصف الملف: application/pdf

الاتاحة: https://discovery.dundee.ac.uk/en/publications/d149f7e2-ec3f-483a-abad-0890c68e8be7
https://doi.org/10.1038/s41467-024-52551-8
https://discovery.dundee.ac.uk/ws/files/135745788/s41467-024-52551-8.pdf
http://www.scopus.com/inward/record.url?scp=85204418272&partnerID=8YFLogxK

المؤلفون: Kaya, Merve, Post, Cathalijne C.B., Tops, Carli M., Nielsen, Maartje, Crosbie, Emma J., Leary, Alexandra, Mileshkin, Linda R., Han, Kathy, Bessette, Paul, de Boer, Stephanie M., Jürgenliemk-Schulz, Ina M., Lutgens, Ludy, Jobsen, Jan J., Haverkort, Marie A.D., Nout, Remi A., Kroep, Judith, Creutzberg, Carien L., Smit, Vincent T.H.B.M., Horeweg, Nanda, van Wezel, Tom, Bosse, Tjalling

المساهمون: MS Radiotherapie, Cancer

مصطلحات موضوعية: endometrial carcinoma, hereditary cancer syndromes, Lynch syndrome, mismatch repair-deficiency, PORTEC trials, General Medicine

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/454561

الاتاحة: https://dspace.library.uu.nl/handle/1874/454561

المؤلفون: van der Werf-'t Lam, Anne Sophie, Rodriguez-Girondo, Mar, Villasmil, Mandy, Tops, Carli M., van Hest, Liselotte, Gille, Hans J.P., Duijkers, Floor A.M., Wagner, Anja, Eikenboom, Ellis, Letteboer, Tom G.W., de Jong, Mirjam M., Bajwa-ten Broeke, Sanne W., Bleeker, Fonnet, Gomez Garcia, Encarna B., Dominguez-Valentin, Mev, Møller, Pal, Suerink, Manon, Nielsen, Maartje

المساهمون: Genetica, Genetica Klinische Genetica, Child Health

مصطلحات موضوعية: cancer risks, colorectal carcinoma, endometrial carcinoma, Lynch syndrome, Genetics, Cancer Research

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/455305

الاتاحة: https://dspace.library.uu.nl/handle/1874/455305

المؤلفون: Helderman, Noah C., Andini, Katarina D., van Leerdam, Monique E., van Hest, Liselotte P., Hoekman, Daniël R., Ahadova, Aysel, Bajwa-ten Broeke, Sanne W., Bosse, Tjalling, van der Logt, Elise M.J., Imhann, Floris, Kloor, Matthias, Langers, Alexandra M.J., Smit, Vincent T.H.B.M., Terlouw, Diantha, van Wezel, Tom, Morreau, Hans, Nielsen, Maartje

المصدر: Helderman , N C , Andini , K D , van Leerdam , M E , van Hest , L P , Hoekman , D R , Ahadova , A , Bajwa-ten Broeke , S W , Bosse , T , van der Logt , E M J , Imhann , F , Kloor , M , Langers , A M J , Smit , V T H B M , Terlouw , D , van Wezel , T , Morreau , H & Nielsen , M 2024 , ' MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/d0ce0d33-8244-448d-b398-e7cc81b3eb59
https://research.rug.nl/en/publications/d0ce0d33-8244-448d-b398-e7cc81b3eb59
https://doi.org/10.1016/j.jmoldx.2023.10.005
https://pure.rug.nl/ws/files/930991025/MLH1_Promotor_Hypermethylation_in_Colorectal_and_Endometrial_Carcinomas_from_Patients_with_Lynch_Syndrome.pdf
http://www.scopus.com/inward/record.url?scp=85182780824&partnerID=8YFLogxK

المؤلفون: Waters, Andrew J, Brendler-Spaeth, Timothy, Smith, Danielle, Offord, Victoria, Tan, Hong Kee, Zhao, Yajie, Obolenski, Sofia, Nielsen, Maartje, van Doorn, Remco, Murphy, Jo-Ellen, Gupta, Prashant, Rowlands, Charlie F, Hanson, Helen, Delage, Erwan, Thomas, Mark, Radford, Elizabeth J, Gerety, Sebastian S, Turnbull, Clare, Perry, John RB, Hurles, Matthew E, Adams, David J

مصطلحات موضوعية: Humans, Germ-Line Mutation, Ubiquitin Thiolesterase, Tumor Suppressor Proteins, Gene Editing, Neoplasms, Genetic Predisposition to Disease, Pedigree, Female, Male

وصف الملف: application/pdf; text/xml; application/zip

Relation: https://www.repository.cam.ac.uk/handle/1810/371320

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/371320

المؤلفون: Meuser, Elena, Chang, Kyle, Walters, Angharad, Hurley, Joanna J., West, Hannah D., Perry, Iain, Mort, Matthew, Reyes-Uribe, Laura, Truscott, Rebekah, Jones, Nicholas, Lawrence, Rachel, Jenkins, Gareth, Giles, Peter, Dolwani, Sunil, Al-Sarireh, Bilal, Hawkes, Neil, Short, Emma, Williams, Geraint T., Taggart, Melissa W., Luetchford, Kim, Lynch, Patrick M., Terlouw, Diantha, Nielsen, Maartje, Walton, Sarah-Jane, Latchford, Andrew, Clark, Susan K., Sampson, Julian R., Vilar, Eduardo, Thomas, Laura E.

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/171443/1/SAMPSON%20JULIAN%20-%20PIGA%20Mutations%20and%20Glycosylphosphatidylinositol.pdf; Meuser, Elena, Chang, Kyle, Walters, Angharad https://orca.cardiff.ac.uk/view/cardiffauthors/A429100O.html, Hurley, Joanna J., West, Hannah D. https://orca.cardiff.ac.uk/view/cardiffauthors/A2337186L.html orcid:0000-0002-6104-6534 orcid:0000-0002-6104-6534, Perry, Iain, Mort, Matthew https://orca.cardiff.ac.uk/view/cardiffauthors/A062506X.html, Reyes-Uribe, Laura, Truscott, Rebekah https://orca.cardiff.ac.uk/view/cardiffauthors/A2322761X.html, Jones, Nicholas, Lawrence, Rachel, Jenkins, Gareth, Giles, Peter https://orca.cardiff.ac.uk/view/cardiffauthors/A0387711.html orcid:0000-0003-3143-6854 orcid:0000-0003-3143-6854, Dolwani, Sunil https://orca.cardiff.ac.uk/view/cardiffauthors/A031553M.html orcid:0000-0002-3113-5472 orcid:0000-0002-3113-5472, Al-Sarireh, Bilal, Hawkes, Neil, Short, Emma, Williams, Geraint T. https://orca.cardiff.ac.uk/view/cardiffauthors/A038768S.html orcid:0000-0003-3768-9940 orcid:0000-0003-3768-9940, Taggart, Melissa W., Luetchford, Kim, Lynch, Patrick M., Terlouw, Diantha, Nielsen, Maartje, Walton, Sarah-Jane, Latchford, Andrew, Clark, Susan K., Sampson, Julian R. https://orca.cardiff.ac.uk/view/cardiffauthors/A0160820.html orcid:0000-0002-2902-2348 orcid:0000-0002-2902-2348, Vilar, Eduardo and Thomas, Laura E. 2024. PIGA mutations and glycosylphosphatidylinositol anchor dysregulation in polyposis-associated duodenal tumorigenesis. Molecular Cancer Research 22 (6) , 515–523. 10.1158/1541-7786.MCR-23-0810 https://doi.org/10.1158/1541-7786.MCR-23-0810 file https://orca.cardiff.ac.uk/id/eprint/171443/1/SAMPSON%20JULIAN%20-%20PIGA%20Mutations%20and%20Glycosylphosphatidylinositol.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/171443/
https://doi.org/10.1158/1541-7786.MCR-23-0810
https://orca.cardiff.ac.uk/id/eprint/171443/1/SAMPSON%20JULIAN%20-%20PIGA%20Mutations%20and%20Glycosylphosphatidylinositol.pdf

المؤلفون: Terlouw, Diantha, Boot, Arnoud, Ducarmon, Quinten R., Nooij, Sam, Suerink, Manon, van Leerdam, Monique E., van Egmond, Demi, Tops, Carli M., Zwittink, Romy D., Ruano, Dina, Langers, Alexandra M. J., Nielsen, Maartje, van Wezel, Tom, Morreau, Hans

المساهمون: KWF Kankerbestrijding

المصدر: BMC Cancer ; volume 24, issue 1 ; ISSN 1471-2407

الاتاحة: http://dx.doi.org/10.1186/s12885-024-11849-y
https://link.springer.com/content/pdf/10.1186/s12885-024-11849-y.pdf
https://link.springer.com/article/10.1186/s12885-024-11849-y/fulltext.html

المؤلفون: Helderman, Noah C., van Leerdam, Monique E., Kloor, Matthias, Ahadova, Aysel, Nielsen, Maartje

المصدر: Critical Reviews in Oncology/Hematology ; volume 197, page 104331 ; ISSN 1040-8428

الاتاحة: http://dx.doi.org/10.1016/j.critrevonc.2024.104331
https://api.elsevier.com/content/article/PII:S104084282400074X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S104084282400074X?httpAccept=text/plain

المؤلفون: Hendricks, Linda A J, Hoogerbrugge, Nicoline, Mensenkamp, Arjen R, Brunet, Joan, Lleuger-Pujol, Roser, Høberg-Vetti, Hildegunn, Haavind, Marianne Tveit, Innella, Giovanni, Turchetti, Daniela, Aretz, Stefan, Spier, Isabel, Tischkowitz, Marc, Jahn, Arne, Links, Thera P, Olderode-Berends, Maran J W, Blatnik, Ana, Leter, Edward M, Evans, D Gareth, Woodward, Emma R, Steinke-Lange, Verena, Anastasiadou, Violetta C, Colas, Chrystelle, Villy, Marie-Charlotte, Benusiglio, Patrick R, Gerasimenko, Anna, Barili, Valeria, Branchaud, Maud, Houdayer, Claude, Tesi, Bianca, Yazicioglu, M Omer, van der Post, Rachel S, Schuurs-Hoeijmakers, Janneke H M, van Hest, Liselotte P, Adank, Muriel A, Duijkers, Floor, Nielsen, Maartje, Verbeek, Katja C J, van Ierland, Yvette, Giltay, Jacques C, Vos, Janet R

المساهمون: Hendricks, Linda A J, Hoogerbrugge, Nicoline, Mensenkamp, Arjen R, Brunet, Joan, Lleuger-Pujol, Roser, Høberg-Vetti, Hildegunn, Haavind, Marianne Tveit, Innella, Giovanni, Turchetti, Daniela, Aretz, Stefan, Spier, Isabel, Tischkowitz, Marc, Jahn, Arne, Links, Thera P, Olderode-Berends, Maran J W, Blatnik, Ana, Leter, Edward M, Evans, D Gareth, Woodward, Emma R, Steinke-Lange, Verena, Anastasiadou, Violetta C, Colas, Chrystelle, Villy, Marie-Charlotte, Benusiglio, Patrick R, Gerasimenko, Anna, Barili, Valeria, Branchaud, Maud, Houdayer, Claude, Tesi, Bianca, Yazicioglu, M Omer, van der Post, Rachel S, Schuurs-Hoeijmakers, Janneke H M, van Hest, Liselotte P, Adank, Muriel A, Duijkers, Floor, Nielsen, Maartje, Verbeek, Katja C J, van Ierland, Yvette, Giltay, Jacques C, Vos, Janet R

مصطلحات موضوعية: PTEN, Cancer Risk

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/36171661; info:eu-repo/semantics/altIdentifier/wos/WOS:001032703300001; volume:115; issue:1; firstpage:93; lastpage:103; numberofpages:11; journal:JOURNAL OF THE NATIONAL CANCER INSTITUTE; https://hdl.handle.net/11585/895050; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149012016; https://academic.oup.com/jnci/article/115/1/93/6726192

الاتاحة: https://hdl.handle.net/11585/895050
https://doi.org/10.1093/jnci/djac188
https://academic.oup.com/jnci/article/115/1/93/6726192

المؤلفون: van der Werf-'t, Anne-Sophie, Terlouw, Diantha, Tops, Carli M., van Kan, Merel S., van Hest, Liselotte P., Gille, Hans J. P., Duijkers, Floor A. M., Wagner, Anja, Eikenboom, Ellis L., Letteboer, Tom G. W., de Jong, Mirjam M., Broeke, Sanne W. Bajwa-ten, Bleeker, Fonnet E., Garcia, Encarna B. Gomez, de Wind, Niels, van Wezel, J. Tom, Morreau, Hans, Suerink, Manon, Nielsen, Maartje

المصدر: van der Werf-'t , A-S , Terlouw , D , Tops , C M , van Kan , M S , van Hest , L P , Gille , H J P , Duijkers , F A M , Wagner , A , Eikenboom , E L , Letteboer , T G W , de Jong , M M , Broeke , S W B , Bleeker , F E , Garcia , E B G , de Wind , N , van Wezel , J T , Morreau , H , Suerink , M & Nielsen , M ....

مصطلحات موضوعية: immunohistochemistry, Lynch Syndrome, microsatellite instability, Mismatch repairdeficiency, NONPOLYPOSIS COLORECTAL-CANCER, MISMATCH REPAIR PROTEINS, ENDOMETRIAL CANCERS, INSTABILITY, MUTATIONS, EXPRESSION, GERMLINE, COLON

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/40c0eec6-1881-4634-86e1-ee777432026a
https://doi.org/10.1016/j.modpat.2023.100240

المؤلفون: 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

المساهمون: Tampere University, Clinical Medicine, TAYS Cancer Centre

مصطلحات موضوعية: 3122 Cancers

وصف الملف: fulltext

Relation: 101909; 58; ORCID: /0000-0002-4940-3498/work/133055789; https://trepo.tuni.fi/handle/10024/150138; URN:NBN:fi:tuni-202308097517

الاتاحة: https://trepo.tuni.fi/handle/10024/150138
https://doi.org/10.1016/j.eclinm.2023.101909

المؤلفون: Lalloo, Fiona, Kulkarni, Anju, Chau, Cindy, Nielsen, Maartje, Sheaff, Michael, Steele, Jeremy, van Doorn, Remco, Wadt, Karin, Hamill, Monica, Torr, Beth, Tischkowitz, Marc, Ahmed, Munaza, Bajalica-Lagercrantz, Svetlana, Blatnik, Ana, Brunet, Joan, Cleaver, Ruth, Colas, Chrystelle, Dabir, Tabib, Evans, D. Gareth, Feshtali, Shirin, Ghiorzo, Paola, Graversen, Lise, Griewank, Klaus, Helgadottir, Hildur, Jewell, Rosalyn, Kohut, Kelly, Lorentzen, Henrik, Massi, Daniela, Missotten, Guy, Murray, Alex, Murray, Jennie, Nadal, Ernest, Ong, Kai Ren, Piulats, Josep M., Puig, Susana, Rajan, Neil, Ribero, Simone, Salle, Galateau, Teulé, Alexandre, Tham, Emma, van Paassen, Barbara, De Putter, Robin, Verdijk, Robert, Wagner, Anja, Woodward, Emma R., Hanson, Helen

المصدر: Lalloo , F , Kulkarni , A , Chau , C , Nielsen , M , Sheaff , M , Steele , J , van Doorn , R , Wadt , K , Hamill , M , Torr , B , Tischkowitz , M , Ahmed , M , Bajalica-Lagercrantz , S , Blatnik , A , Brunet , J , Cleaver , R , Colas , C , Dabir , T , Evans , D G , Feshtali , S , Ghiorzo , P , Graversen , L , Griewank , K , Helgadottir , H , Jewell ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/a3e5a976-36fb-40d0-894f-88195dcdc2d3
https://doi.org/10.1038/s41431-023-01448-z
https://pure.eur.nl/ws/files/99627608/Clinical_practice_guidelines_for_the_diagnosis_and_surveillance_of_BAP1_tumour_predisposition_syndrome.pdf
http://www.scopus.com/inward/record.url?scp=85168608297&partnerID=8YFLogxK

المؤلفون: Helderman, Noah c., Van Der Werf-’T Lam, Anne Sophie, Terlouw, Diantha, Bajwa-ten Broeke, Sanne W., Rodríguez-Girondo, Mar, van Egmond, Demi, Langers, Alexandra M.J., van Leerdam, Monique E., Rayner, Emily, van Asperen, Christi J., van Hest, Liselotte P., Gille, Hans J.P., Duijkers, Floor A.M., Wagner, Anja, Eikenboom, Ellis L., Letteboer, Tom G.W., de Jong, Mirjam M., Bleeker, Fonnet E., Gomez Garcìa, Encarna B., Suerink, Manon, Tops, Carli M., de Wind, Niels, Morreau, Hans, Boot, Arnoud, Van Wezel, Tom, Nielsen, Maartje

المصدر: MSH6 TUMOR GROUP , Helderman , N C , Van Der Werf-’T Lam , A S , Terlouw , D , Bajwa-ten Broeke , S W , Rodríguez-Girondo , M , van Egmond , D , Langers , A M J , van Leerdam , M E , Rayner , E , van Asperen , C J , van Hest , L P , Gille , H J P , Duijkers , F A M , Wagner , A , Eikenboom , E L , Letteboer , T G W , de Jong , M M , Bleeker , ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/1f17ca11-48db-4722-8dca-1d1438f3ec6f
https://doi.org/10.1053/j.gastro.2023.03.198
https://pure.eur.nl/ws/files/93228853/Molecular_Profile_of_MSH6_Associated_Colorectal_Carcinomas_Shows_Distinct_Features_From_Other_Lynch_Syndrome_Associated_Colorectal_Carcinomas.pdf
http://www.scopus.com/inward/record.url?scp=85160215499&partnerID=8YFLogxK

المؤلفون: 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, Brunet Vidal, Joan, Kariv, Revital, Rosner, Guy, Alejandra Pinero, Tamara, Laura Gonzalez, Maria, Kalfayan, Pablo, Ryan, Neil, Ten Broeke, Sanne W., Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Burn, John, Greenblatt, Marc, Cappel, Wouter H. de Vos tot Nederveen, Della Valle, Adriana, Lopez-Koestner, Francisco, Alvarez, Karin, Buettner, Reinhard, Goergens, Heike, Morak, Monika, Holzapfel, Stefanie, Hueneburg, Robert, Doeberitz, Magnus von Knebel, Loeffler, Markus, Rahner, Nils, Weitz, Jurgen, 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, Loic, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Denton, Oliver G., Rodland, Einar Andreas, Vasen, Hans, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Moeslein, Gabriela, Sampson, Julian R., Evans, D. Gareth, Seppälä, Toni T., Møller, Pål

المساهمون: ATG - Applied Tumor Genomics, HUS Abdominal Center, II kirurgian klinikka, Department of Surgery, Clinicum, Helsinki University Hospital Area, University of Helsinki

مصطلحات موضوعية: HEREDITARY COLORECTAL-CANCER, ASPIRIN, CAPP2, Biomedicine, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: The study was supported by a Pink Ribbon grant (194751) from Den Norske Kreftforening to E.H. We express our gratitude to Heikki Jarvinen, Beatrice Alcala-Repo, Teresa Ocana, Maria Pellise, Sabela Carballal, Liseth Rivero, Lorena Moreno, Gerhard Jung, Antoni Castells, Joaquin Cubiella, Laura Rivas, Luis Bujanda, Ines Gil, Jesus Banales, Catalina Garau, Rodrigo Jover, Maria Dolores Pico, Xavier Bessa, Cristina Alvarez, Montserrat Andreu, Carmen Poves, Pedro Perez Segura, Lucia Cid, Marta Carrillo, Enrique Quintero, Angeles Pizarro, Marta Garzon, Adolfo Suarez, Inmaculada Salces, Daniel Rodriguez-Alcalde, Judith Balmana, Adria Lopez, Nuria Duenas, Gemma Llort, Carmen Yague, Teresa Ramon i Cajal, David Fisas Masferrer, Alexandra Gisbert Beamud, Consol Lopez San Martin, Maite Herraiz, Pilar Perez, Cristina Carretero, Maite Betes, Marta Ponce, Elena Aguirre, Nora Alfaro, Carlos Sarroca, and Marianne Haeusler for their efforts over many years. We also thank the Finnish Cancer Foundation, Jane and Aatos Erkko Foundation, Emil Aaltonen Foundation, Finnish Medical Foundation, Instrumentarium Science Foundation, Sigrid Juselius Foundation, and the Norwegian Cancer Society (contract 194751-2017) for funding. D.G.E. and E.J.C. are supported by the all Manchester National Institute for Health Research (NIHR) Biomedical Research Center (IS-BRC-1215-20007) and J.R.S. by Health and Care Research Wales through Wales Gene Park. N.R. was a Medical Research Council Doctoral Research Fellow (MR/M018431/1). Research reported in this publication was supported by the National Cancer Institute (NCI) of the National Institutes of Health (NIH) under award number UM1CA167551 and through cooperative agreements with the following The Colon Cancer Family Registry (CCFR) centers: Australasian Colorectal Cancer Family Registry (NCI/NIH U01 CA074778 and U01/U24 CA097735), Mayo Clinic Cooperative Family Registry for Colon Cancer Studies (NCI/NIH U01/U24 CA074800), Ontario Familial Colorectal Cancer Registry (NCI/NIH U01/U24 CA074783), Seattle Colorectal Cancer Family Registry (NCI/NIH U01/U24 CA074794), University of Hawaii Colorectal Cancer Family Registry (NCI/NIH U01/U24 CA074806 and R01 CA104132 to L.L.), USC Consortium Colorectal Cancer Family Registry (NCI/NIH U01/U24 CA074799). The German Consortium for Familial Intestinal Cancer has been supported by grants from the German Cancer Aid. Data collection from Wales, UK was supported by the Wales Gene Park. This work was cofunded by the European Regional Development Fund (ERDF). M.N. and S.W.t.B were supported by a grant from the Dutch Cancer Society (DCS), grant number UL 2017-8223. G.C., M.P., and J.B.V. were funded by the Spanish Ministry of Economy and Competitiveness and cofunded by FEDER funds (A Way to Build Europe) (grant SAF2015-68016-R), CIBERONC, the Government of Catalonia (grant 2017SGR1282).; Dominguez-Valentin , M , Crosbie , E J , Engel , C , Aretz , S , Macrae , F , Winship , I , Capella , G , Thomas , H , Nakken , S , Hovig , E , Nielsen , M , Sijmons , R H , Bertario , L , Bonanni , B , Tibiletti , M G , Cavestro , G M , Mints , M , Gluck , N , Katz , L , Heinimann , K , Vaccaro , C A , Green , K , Lalloo , F , Hill , J , Schmiegel , W , Vangala , D , Perne , C , Strauss , H-G , Tecklenburg , J , Holinski-Feder , E , Steinke-Lange , V , Mecklin , J-P , Plazzer , J-P , Pineda , M , Navarro , M , Brunet Vidal , J , Kariv , R , Rosner , G , Alejandra Pinero , T , Laura Gonzalez , M , Kalfayan , P , Ryan , N , Ten Broeke , S W , Jenkins , M A , Sunde , L , Bernstein , I , Burn , J , Greenblatt , M , Cappel , W H D V T N , Della Valle , A , Lopez-Koestner , F , Alvarez , K , Buettner , R , Goergens , H , Morak , M , Holzapfel , S , Hueneburg , R , Doeberitz , M V K , Loeffler , M , Rahner , N , Weitz , J , Pylvänäinen , K , Renkonen-Sinisalo , L , Lepistö , A , Auranen , A , 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 , Therkildsen , C , Okkels , H , Ketabi , Z , Denton , O G , Rodland , E A , Vasen , H , Neffa , F , Esperon , P , Tjandra , D , Moeslein , G , Sampson , J R , Evans , D G , Seppälä , T T & Møller , P 2021 , ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ' , Genetics In medicine , vol. 23 , no. 4 , pp. 705-712 . https://doi.org/10.1038/s41436-020-01029-1; ORCID: /0000-0002-5866-4059/work/127004131; ORCID: /0000-0002-4940-3498/work/127004783; http://hdl.handle.net/10138/353260; 053c901b-4612-4593-9ac3-efc3c63f8439; 000595283200001

الاتاحة: http://hdl.handle.net/10138/353260

المؤلفون: Andini, Katarina D., Nielsen, Maartje, Suerink, Manon, Helderman, Noah C., Koornstra, Jan Jacob, Ahadova, Aysel, Kloor, Matthias, Mourits, Marian J.E., Kok, Klaas, Sijmons, Rolf H., Bajwa–ten Broeke, Sanne W.

المصدر: Andini , K D , Nielsen , M , Suerink , M , Helderman , N C , Koornstra , J J , Ahadova , A , Kloor , M , Mourits , M J E , Kok , K , Sijmons , R H & Bajwa–ten Broeke , S W 2023 , ' PMS2-associated Lynch syndrome : Past, present and future ' , Frontiers in Oncology , vol. 13 , 1127329 . https://doi.org/10.3389/fonc.2023.1127329

مصطلحات موضوعية: carcinonogenesis, colorectal cancer, endometrial cancer, Lynch syndrome (hereditary nonpolyposis colorectal cancer), mismatch repair (MMR), PMS2 gene

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/e95771c6-09fa-4a70-b760-f2749d49ec2b
https://research.rug.nl/en/publications/e95771c6-09fa-4a70-b760-f2749d49ec2b
https://doi.org/10.3389/fonc.2023.1127329
https://pure.rug.nl/ws/files/667108148/fonc_13_1127329.pdf

المؤلفون: Sherwood, Kitty, Ward, Joseph C., Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R., Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire, Tomlinson, Ian

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/160472/1/41467_2023_39248_MOESM1_ESM.pdf; https://orca.cardiff.ac.uk/id/eprint/160472/2/41467_2023_Article_39248.pdf; https://orca.cardiff.ac.uk/id/eprint/160472/59/SAMPSON,%2BJULIAN%2B-%2BAuthor%2BCorrection%2BGermline%2Bde%2Bnovo%2Bmutations%2Bin%2Bfamilies%2Bwith%2BMendelian%2Bcancer%2Bsyndromes%2Bcaused%2Bby%2Bdefects%2Bin%2BDNA%2Brepair.pdf.pdf; Sherwood, Kitty, Ward, Joseph C., Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R. https://orca.cardiff.ac.uk/view/cardiffauthors/A0160820.html orcid:0000-0002-2902-2348 orcid:0000-0002-2902-2348, Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire and Tomlinson, Ian 2023. Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair. Nature Communications 14 , 3636. 10.1038/s41467-023-39248-0 https://doi.org/10.1038/s41467-023-39248-0 file https://orca.cardiff.ac.uk/id/eprint/160472/1/41467_2023_39248_MOESM1_ESM.pdffile https://orca.cardiff.ac.uk/id/eprint/160472/2/41467_2023_Article_39248.pdffile https://orca.cardiff.ac.uk/id/eprint/160472/59/SAMPSON,%2BJULIAN%2B-%2BAuthor%2BCorrection%2BGermline%2Bde%2Bnovo%2Bmutations%2Bin%2Bfamilies%2Bwith%2BMendelian%2Bcancer%2Bsyndromes%2Bcaused%2Bby%2Bdefects%2Bin%2BDNA%2Brepair.pdf.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/160472/
https://doi.org/10.1038/s41467-023-39248-0
https://orca.cardiff.ac.uk/id/eprint/160472/1/41467_2023_39248_MOESM1_ESM.pdf
https://orca.cardiff.ac.uk/id/eprint/160472/2/41467_2023_Article_39248.pdf
https://orca.cardiff.ac.uk/id/eprint/160472/59/SAMPSON,%2BJULIAN%2B-%2BAuthor%2BCorrection%2BGermline%2Bde%2Bnovo%2Bmutations%2Bin%2Bfamilies%2Bwith%2BMendelian%2Bcancer%2Bsyndromes%2Bcaused%2Bby%2Bdefects%2Bin%2BDNA%2Brepair.pdf.pdf

المؤلفون: Terlouw, Diantha, Hes, Frederik J, Suerink, Manon, Boot, Arnoud, Langers, Alexandra M J, Tops, Carli M, van Leerdam, Monique E, van Asperen, Christi J, Rozen, Steve G, Bijlsma, Emilia K, van Wezel, Tom, Morreau, Hans, Nielsen, Maartje

مصطلحات موضوعية: PostScript

وصف الملف: text/html

Relation: http://gut.bmj.com/cgi/content/short/72/11/2186; http://dx.doi.org/10.1136/gutjnl-2022-328540

الاتاحة: http://gut.bmj.com/cgi/content/short/72/11/2186
https://doi.org/10.1136/gutjnl-2022-328540

المؤلفون: Sherwood, Kitty, Ward, Joseph C., Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R., Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire, Tomlinson, Ian

المصدر: Nature Communications ; volume 14, issue 1 ; ISSN 2041-1723

الاتاحة: https://doi.org/10.1038/s41467-023-39587-y
https://www.nature.com/articles/s41467-023-39587-y.pdf
https://www.nature.com/articles/s41467-023-39587-y