Výsledky vyhledávání - "J J P, Gille"

Akademický článek

Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice

Autor: Jincey D. Sriram, Irma van de Beek, Paul C. Johannesma, Michiel H. van Werkum, Tijmen J. W. T. van der Wel, Elise M. Wessels, Hans J. J. P. Gille, Arjan C. Houweling, Pieter E. Postmus, Hans J. M. Smit

Publikováno v: BMC Pulmonary Medicine, Vol 22, Iss 1, Pp 1-8 (2022)

Abstract Background Birt-Hogg-Dubé syndrome (BHD) is an inherited disease caused by pathogenic variants in the FLCN gene. One of the characteristics is the increased risk for spontaneous pneumothorax, likely due to the presence of pulmonary cysts ma

Externí odkaz: https://doaj.org/article/f65c31c8c14841f3b507b58dca520cd2

Zobrazit plný text záznamu

Akademický článek

Renal imaging in 199 Dutch patients with Birt-Hogg-Dubé syndrome: Screening compliance and outcome.

Autor: Paul C Johannesma, Irma van de Beek, Tijmen J W T van der Wel, Rinze Reinhard, Lawrence Rozendaal, Theo M Starink, Jan Hein T M van Waesberghe, Simon Horenblas, Hans J J P Gille, Marianne A Jonker, Hanne E J Meijers-Heijboer, Pieter E Postmus, Arjan C Houweling, Jeroen R A van Moorselaar

Publikováno v: PLoS ONE, Vol 14, Iss 3, p e0212952 (2019)

Birt-Hogg-Dubé syndrome is associated with an increased risk for renal cell carcinoma. Surveillance is recommended, but the optimal imaging method and screening interval remain to be defined. The main aim of our study was to evaluate the outcomes of

Externí odkaz: https://doaj.org/article/e061467c213648bc94569e95baa4bfc1

Zobrazit plný text záznamu

Plný text ve formátu HTML

No evidence for increased prevalence of colorectal carcinoma in 399 Dutch patients with Birt-Hogg-Dubé syndrome

Autor: Iris E. Glykofridis, Rob M. F. Wolthuis, Irma van de Beek, Hans J. J. P. Gille, Arjan C. Houweling, R. Jeroen A. van Moorselaar, P.C. Johannesma, Hanne Meijers-Heijboer

Publikováno v: van de Beek, I, Glykofridis, I E, Wolthuis, R M F, Gille, H J J P, Johannesma, P C, Meijers-Heijboer, H E J, van Moorselaar, J R A & Houweling, A C 2020, ' No evidence for increased prevalence of colorectal carcinoma in 399 Dutch patients with Birt-Hogg-Dubé syndrome ', British Journal of Cancer, vol. 122, no. 4, pp. 590-594 . https://doi.org/10.1038/s41416-019-0693-1
British Journal of Cancer, 122(4), 590-594. Nature Publishing Group
British journal of cancer, 122(4), 590-594. Nature Publishing Group
British Journal of Cancer

Background Previously, it has been suggested that colorectal polyps and carcinomas might be associated with Birt-Hogg-Dubé syndrome. We aimed to compare the occurrence of colorectal neoplasms between Dutch patients with Birt-Hogg-Dubé syndrome and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60ec1ec4283094ab1f42f3db2a1290cd
https://doi.org/10.1038/s41416-019-0693-1

Zobrazit plný text záznamu

Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy

Autor: Frederik J. Hes, Hans Morreau, Alexandra M. J. Langers, Sanne W. ten Broeke, Tom van Wezel, Carli M. J. Tops, Hans J. J. P. Gille, Yvonne J. Vos, Maartje Nielsen, Manon Suerink, Sunny S. Singh, Diantha Terlouw, Hans F. A. Vasen

Publikováno v: Terlouw, D, Suerink, M, Singh, S S, Gille, H J J P, Hes, F J, Langers, A M J, Morreau, H, Vasen, H F A, Vos, Y J, van Wezel, T, Tops, C M, ten Broeke, S W & Nielsen, M 2020, ' Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy ', European Journal of Human Genetics, vol. 28, no. 2, pp. 222-230 . https://doi.org/10.1038/s41431-019-0509-z
European Journal of Human Genetics, 28(2), 222-230. Nature Publishing Group
European Journal of Human Genetics, 28(2), 222-230. NATURE PUBLISHING GROUP
Eur J Hum Genet

This study aimed to determine the prevalence of APC-associated familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) in a large cohort, taking into account factors as adenoma count and year of diagnosis. All application forms used

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a64ca54262a0c958c6619eb8e537d20b
https://doi.org/10.1038/s41431-019-0509-z

Zobrazit plný text záznamu

Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects

Autor: Alyson W. MacInnes, Rienk Y. J. Tamminga, Birgit van Dooijeweert, Hans J. J. P. Gille, D. Maroeska M. W. te Loo, Bernd Granzen, Marc Bierings, Marije Bartels, C. Heleen van Ommen, Albertine E. Donker, Marjolein Peters, Frans J. Smiers

Publikováno v: van Dooijeweert, B, van Ommen, C H, Smiers, F J, Tamminga, R Y J, te Loo, M W, Donker, A E, Peters, M, Granzen, B, Gille, H J J P, Bierings, M B, MacInnes, A W & Bartels, M 2018, ' Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects ', European Journal of Haematology, vol. 100, no. 2, pp. 163-170 . https://doi.org/10.1111/ejh.12995
European Journal of Haematology, 100, 163-170
European journal of haematology, 100(2), 163-170. Wiley-Blackwell
European Journal of Haematology, 100(2), 163-170
European Journal of Haematology, 100(2), 163-170. Wiley
European Journal of Haematology, 100(2), 163-170. Wiley-Blackwell
European Journal of Haematology, 100(2), 163. Wiley-Blackwell
European Journal of Haematology, 100, 2, pp. 163-170

INTRODUCTION: Diamond-Blackfan anemia (DBA) is characterized by hypoplastic anemia, congenital anomalies, and a predisposition for malignancies. Most of our understanding of this disorder stems from molecular studies combined with extensive data inpu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e910c7eba2c4c1698741da60c637b0b5
https://doi.org/10.1111/ejh.12995

Zobrazit plný text záznamu

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

Publikováno v: Human mutation, 37(11), 1162-1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162-1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162–1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162-1179. Wiley
Human Mutation, 37(11), 1162-1179
Human Mutation, 37, 11, pp. 1162-1179
Human Mutation, 37, 1162-1179
van der Klift, H M, Mensenkamp, A R, Drost, M, Bik, E C, Vos, Y J, Gille, H J J P, Redeker, B E J W, Tiersma, Y, Zonneveld, J B M, Garcia, E G, Letteboer, T G W, Olderode-Berends, M J W, van Hest, L P, van Os, T A, Verhoef, S, Wagner, A, van Asperen, C J, Ten Broeke, S W, Hes, F J, de Wind, N, Nielsen, M, Devilee, P, Ligtenberg, M J L, Wijnen, J T & Tops, C M J 2016, ' Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome ', Human Mutation, vol. 37, no. 11, pp. 1162-1179 . https://doi.org/10.1002/humu.23052

Monoallelic PMS2 germline mutations cause 5-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional MMR deficiency (CMMRD), a rare childhood cancer syndrome. Recently improved

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0e47d3e18fe6f732f598289c985f991
https://doi.org/10.1002/humu.23052

Zobrazit plný text záznamu

SNP association study in PMS2-associated Lynch syndrome

Publikováno v: 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

Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS). Previous studies focused mostly

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

Zobrazit plný text záznamu

PULMONARY BIRT-HOGG-DUBE SYNDROME: A GOOD REASON TO ROUTINELY PERFORM A LOW DOSE CHEST CT SCAN IN PATIENTS WITH PRIMARY SPONTANEOUS PNEUMOTHORAX?

Autor: Hans Smit, Hans J. J. P. Gille, Pieter E. Postmus, Arjan C. Houweling, Irma van de Beek, Jincey Sriram, Michiel Van Werkum, Tijmen van der Wel, Paul C Johannesma

Publikováno v: Chest. 154:576A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d90800bd95f064ce768786b3bd51bf59
https://doi.org/10.1016/j.chest.2018.08.520

Zobrazit plný text záznamu

P003 Implementation of High Throughput Parallel Sequencing in a Diagnostic Setting: Multiplexed Amplicon Sequencing of the Breast Cancer Genes BRCA1 and 2

Autor: Zogopoulos G, Tomi Pastinen, Sivanandan K, Vaca F, Kinoshita T, Johannes B, Leguis E, Jansen-van der Weide M, Learn L, Godlewski D, Ed Saunders, Montserrat Rué, Vaisman A, de Bock G, Ángel Segura, Sabbaghian N, Mohammad Amin Kerachian, Pelletier S, Metcalfe K, Lilge L, Stockle E, Cheng S, Burger C, Woike A, Michelle Guy, Ragone A, Y. J. Bignon, Bronkhorst Y, Patricia N. Tonin, Lima M, Mieke Kriege, Karsan A, Zweemer R, Prady C, Beattie M, Panchal S, Kathleen Claes, van Zon P, Diane Provencher, Ummels A, Kang I, Shumak R, Arcusa Â, Yosr Hamdi, Alonso Mc, Dolman L, Houssami N, Olivier Delattre, Yannick Bidet, Claude Houdayer, Mercedes Durán, Ganschow P, Isabel Chirivella, Domingo S, Rebsamen M, Giustina Simone, Orland Diez, Chapman J, An tSaoir C, Jeanna McCuaig, Blayney J, Bosdet I, Treacy R, Esther Darder, Ando J, Luc Dehaspe, García-Casado Z, Duffy J, Harkin D, Z Kote-Jarai, Kasamatsu T, Ulf Kristoffersson, Membrez, Priston M, Noreau-Heisz D, Trivedi A, Begoña Graña, Ghadirian P, Ashuryk O, Consol López, Wenzel L, Vogel R, Joseph G, Poll A, Kennedy R, Patton S, Pérez C, Mónica Cornet, Panighetti A, Cassart P, Burke K, Mes-Masson A, Llacuachaqui M, Marc Tischkowitz, Wong N, Arcand S, Kotsopoulos J, Meschino W, Hall A, Marles S, Docking R, Haroun I, Marie Plante, Rachel Laframboise, Daniel Sinnett, Luce J, Sekiguchi I, Edenir Inêz Palmero, de Winter J, Christopher J. Lord, Hamel N, Pruski-Clark J, Lee D, Rusnak A, Carson N, Marta Santamariña, Knoppers B, Oakhill K, Bruce R. Rosen, Pierre O. Chappuis, Bruce Poppe, Stanislaw C, Catts Z, Brood M, van der Wall E, Yip C, Christine Walsh, Hoodfar E, Pressman A, Andrulis I, Alicia Barroso, D. Leongamornlert, Gillian Mitchell, Akira Hirasawa, Shen Z, Sameer Parpia, Horgan M, van Echtelt J, Chun K, Lubinski J, Rebecca Sutphen, Terespolsky D, Richard D, McDyer F, Floquet A, Lambo R, Bathurst L, Brown G, Kidd M, Nicolas Sevenet, Mourits M, Vencken P, Tatiana Popova, Garcia N, Armel S, van Amstel H, Valentini A, Ellen Warner, Hofland N, Hanna D, Kim J, Osann K, Enmore M, Loranger K, Sulivan I, J. Oliveira, Meijers H, Jansen R, Edmundo Carvalho Mauad, Kirkpatrick R, Danilo V Viana, Ian G. Campbell, Mil S, E J Sawyer, J. Balmaña, Samra Turajlic, Graham G, Alonso C, Inanc Birol, Sinclair F, van Tuil M, Pascual Bolufer, Micheli R, Andrew R. Green, Junyent N, Whittaker J, Monnerat C, Rhéaume J, Livingston D, Chan S, L. Ramadan, Lee R, Katarzyna Durda, De Leeneer K, Grados C, Côté C, Kyle B. Matchett, Robert Winqvist, Bonner D, Brunella Pilato, Mohd Taib N, Judy Garber, Kleiderman E, Murakami S, Sharifi N, Kimberley Hill, Desbiens C, Robert Royer, Jasperson K, Hsieh S, De Summa S, Dominique Stoppa-Lyonnet, de Lima J, Stuart McIntosh, Shakeri M, Wendy Kohlmann, Albert-Green A, de Hullu J, Pasick R, Avard D, Pathania S, van der Groep P, Laura Fachal, Bruno Zeitouni, Susan M. Domchek, Davey S, Richard Marais, Powell C, Hans J. J. P. Gille, Greenberg R, Kamata H, Cina, Gaarenstroom K, Lakhal Chaieb M, Kavanagh L, Gaelle Benais-Pont, Sun P, Jansen L, Matthew Parker, Barjhoux L, Russ H, Simon J. Furney, Willems A, Robb L, David E. Goldgar, Young S, Natalia Campacci, Mark G. Thomas, Doug Easton, Klugman S, Barrault M, Calvo N, Adriana C. Flora, Littell R, Narod S, Fragoso, N. Bosch, Finch A, Paul M. Wilkerson, Teo S, Tomasz Huzarski, Manuel Salto-Tellez, Moseley M, Davis S, Olga M. Sinilnikova, Iturbe A, Joan Brunet, Tierney M, Tsai E, Navarro de Souza A, Leclerc M, Lorenzo Manti, Gutiérrez-Enríquez S, Milewski B, Simon S. McDade, Kaplan C, Buckley N, Eva Esteban-Cardeñosa, Richter S, Shimizu C, Li J, Elena Castro, Iwanka Kozarewa, Harley I, Atocha Romero, Carlos E. Andrade, Carole Verny-Pierre, Barouk E, Vian D, Montserrat Baiget, Chan J, Sandra Bonache, Andrew Y Shuen, van der Merwe N, Kaklewski K, Mohar A, Tamura C, Heale E, Rooyadeh M, van Asperen C, Gemma Llort, Alan Mackay, Denroche R, Seelaus C, Zbuk K, McCluggage W, van der Luijt R, Maaike P.G. Vreeswijk, Edelweiss M, Crossan G, Arseneau J, Ambus I, Verheul H, Rodrigo Augusto Depieri Michelli, Juul T. Wijnen, Gross-Lester J, Britta Weigelt, Pedro Pérez-Segura, Richard A. Moore, Cornelissen C, Larouche G, McAlpine J, Daniel Nava Rodrigues, Trim L, Furnival J, Elser C, Muszyńka M, Adriana Lasa, Tuya Pal, Greuter. M, Ng K, Dorval M, Bresee C, Reimnitz G, Gaëtan MacGrogan, Perry Maxwell, Barnadas A, Hwang E, Powell B, Knapke S, Griskevicius. L, Alvarez R, Mester J, Anne-Bine Skytte, Eladio Velasco, Vidal S, Australie K, Leunen K, Ben-Yishay M, Van Houdt J, Phuah S, Amy E Taylor, Pinto R, Fonseca T, Champine M, Gammon A, Hollema H, Menko F, Feng B, David Olmos, Chong G, Tomasz Byrski, Patrick J. Morrison, Gregoire J, André Lopes Carvalho, Don B. Plewes, Rabeneck L, Carrol J, Alan Ashworth, Terlinge A, A Jakubowska, Odette Mariani, Setareh Moghadasi, Reitsma W, Rothenmund H, Herrera L, Anna Tenés, Angel Izquierdo, Asunción Torres, Stawicka M, Goh C, Hirst M, Drummond J, Osorio A, Ostrovsky R, Jeffrey N. Weitzel, Gareth W. Irwin, Fehniger J, Sugano K, Spriggs E, Dęniak T, Volenik A, Thorne H, Piccinin C, Amie Blanco, Jinno H, Robert A. Holt, Stephen B. Fox, Julia J. Gorski, Gilpin C, Herschorn S, Vega A, E. Page, Hamet P, McKenna D, Fabrice Bonnet, Yoshida T, Kienan I. Savage, Petzel S, Elizabeth Bancroft, Schneider S, Warwick L, Stewart S, William D. Foulkes, Colizza K, Bell K, Demsky R, Malgorzata Tymrakiewicz, Caldés T, Fons G, Bowen D, Côté S, Clouston D, Kitagawa Y, Gordon Glendon, Jenny Lester, Kinney A, Nelson E, Silke Hollants, Macrae L, Cajal T, Andrew J. Mungall, Ferrell B, Creighton B, Bressler L, Uy P, Makishima K, Haffaf Z, Ramūnas Janavičius, Einstein G, Zakalik D, Chiarelli A, Cantu D, Croce S, Kalloger S, Lin F, Ian O. Ellis, Benedito Mauro Rossi, R A Wilkinson, Mulligan J, Murphy J, Vadaparampil S, Smith E, Slangen B, Loiselle C, Iqbal J, Palma L, Cooper K, Jorge S. Reis-Filho, Chen. L, Quinten Waisfisz, Haneda E, Banks P, Vermeulen K, Visser B, Montalbán G, McCabe N, Honeyford J, Naseri S, Ng J, Ali A, Sandrine Viala, Mensa I, Kamarainen O, Guerra C, Mazzola E, David A. Schwartz, Marjanka K. Schmidt, Simon R, Fergus J. Couch, Margreet G. E. M. Ausems, Anne Vincent-Salomon, Olinski R, Zewald R, Moreno R, Semple J, McPherson J, Lamers E, Kharbanda A, Kessler L, Biemans D, Au A, Bordeleau L, Jean Feunteun, Mar Infante, Mullan P, Rudaitis, Molenda A, Rachael Natrajan, Pawar, Boman B, Kok T, Andrew A. Brown, Geller M, Monfared N, Bart J, Murata P, Crawford N, Butterfield Y, Bargalló J, Katherine L. Tucker, Cook-Wiens G, Rhodes A, Elodie Manié, Rubio E, Oram L, Shandiz F, Hayden R, Crawford B, Parmigiani G, Harkin P, Müller C, Grant M, Maryou B. Lambros, Thong M, Grzegorz Sukiennicki, Wouts J, Haddock P, Ramon y Cajal T, Kenneth C. Anderson, Michel Longy, Batiste W, Carroll J, Matte C, Hojyo T, Zhao Y, Caroline Seynaeve, Wai P, Simard J, Hurley K, Bolton D, Karlan B, Javier Benítez, Miriam Masas, Tołczko-Grabarek A, de Dueñas E, Geneviève Michils, Moncoutier, Nancy Uhrhammer, MacDonald D, Keyserlingk J, Osher D, Gilks C, Christopher T. Elliott, Scharf L, Gabram-Mendola S, Grondin K, Dohany L, van Diest P, Joris Vermeesch, Jan C. Oosterwijk, M’Baïlara K, DePuit M, Jacek Gronwald, Stefania Tommasi, de la Hoya M, Bouchard K, Black L, Lui M, Soucy P, Rosalind A. Eeles, Gert Matthijs, Graham T, Andrea Eisen, Bacha O, Alvaro N.A. Monteiro, Yoon S, Caron T, Smith D, Marc-Henri Stern, Hampson E, Kurz R, Gaasbeek W, Mundt E, Angela Velasco, Quinn J, Jocelyne Chiquette, Marquez T, Adam B. Murphy, Bakker J, Neus Gadea, Anita Grigoriadis, Aoki D, Dean S, Looi L, Paradiso A, Agostina Stradella, K. Govindasami, Lovell N, Eva Tomiak, Siesling S, Belanger M, Feilotter H, Knight J, Emmanuel Barillot, Huang M, Raquel Andrés, Kang P, Somerman C, Gackowski D, Rimel B, Nakamura S, McClellan K, Barrros E, Henriette Roed Nielsen, Rui Manuel Reis, Greening S, Ayme A, Carmen Guillen, de Vries E, Katarzyna Jaworska

Publikováno v: Current Oncology

Background: Germline mutation screening of BRCA1 and BRCA2 genes is performed in suspected familial breast cancer cases, but a causative mutation is found in only 30% of patients. The development of additional methods to identify good candidates for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4378421bdc7e52d3b45d771979b52c1
https://doi.org/10.3747/co.v16i5.529

Zobrazit plný text záznamu

The TP53 Arg72Pro and MDM2 309G > T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

Autor: Ignacio Blanco, Heli Nevanlinna, Norbert Arnold, Gad Rennert, Catherine Noguès, Javier Benitez, Etienne Rouleau, Embrace, Gemo, Irene Konstantopoulou, David J. Hughes, Flavio Lejbkowicz, kConFab, Rita K. Schmutzler, Mercedes Durán, Carole Brewer, Beatrix Versmold, Georgia Chenevix-Trench, Paolo Radice, Trevor Cole, Alfons Meindl, Ivan Bièche, Rosalind A. Eeles, Isabelle Coupier, Olga M. Sinilnikova, Hebon, A L Laborde, Florence Coulet, Kristiina Aittomäki, M. Cook, Ana Osorio, D. G. Evans, Dieter Schaefer, S. Giraud, Craig Luccarini, Jacques Simard, Hans J. J. P. Gille, Fiona Lalloo, Liliane Demange, Xiaoqing Chen, Florent Soubrier, Susan Peock, Amanda B. Spurdle, Rosemarie Davidson, Lesley McGuffog, T. A. M. van Os, Henry T. Lynch, Jacqueline Cook, Ursula G. Froster, Douglas F. Easton, Sara Dishon, Siranoush Manoukian, Christian Sutter, Gabriella Pichert, Frans B. L. Hogervorst, Mélanie Léoné, Jonathan Beesley, Katherine L. Nathanson, Rosette Lidereau, Sue Healey, Daniel Sinnett, Gc-Hboc, Christoph Engel, Joan Paterson, Chrystelle Colas, Mark H. Greene, U Hamann, Dominique Stoppa-Lyonnet, Ocgn, Irene L. Andrulis, Helmut Deissler, Jennifer T. Loud, A C Antoniou, Susan M. Domchek

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
BRITISH JOURNAL OF CANCER
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Recercat. Dipósit de la Recerca de Catalunya
British Journal of Cancer
Sinilnikova, O M, Antoniou, A C, Simard, J, Healey, S, Leone, M, Sinnett, D, Spurdle, A B, Beesley, J, Chen, X, Greene, M H, Loud, J T, Lejbkowicz, F, Rennert, G, Dishon, S, Andrulis, I L, Domchek, S M, Nathanson, K L, Manoukian, S, Radice, P, Konstantopoulou, I, Blanco, I, Laborde, A L, Duran, M, Osorio, A, Benitez, J, Hamann, U, Hogervorst, F B L, van Os, T A M, Gille, J J P, Peock, S, Cook, M, Luccarini, C, Evans, D G, Lalloo, F, Eeles, R, Pichert, G, Davidson, R, Cole, T, Cook, J, Paterson, J, Brewer, C, Hughes, D J, Coupier, I, Giraud, S, Coulet, F, Colas, C, Soubrier, F, Rouleau, E, Bieche, I, Lidereau, R, Demange, L, Nogues, C, Lynch, H T, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Sutter, C, Deissler, H, Schaefer, D, Froster, U G, Aittomaki, K, Nevanlinna, H, McGuffog, L, Easton, D F, Chenevix-Trench, G & Stoppa-Lyonnet, D 2009, ' The TP53 Arg72Pro and MDM2 309G > T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers ', British Journal of Cancer, vol. 101, no. 8, pp. 1456-1460 . https://doi.org/10.1038/sj.bjc.6605279
British Journal of Cancer, 101(8), 1456-1460. Nature Publishing Group

BACKGROUND: The TP53 pathway, in which TP53 and its negative regulator MDM2 are the central elements, has an important role in carcinogenesis, particularly in BRCA1- and BRCA2-mediated carcinogenesis. A single nucleotide polymorphism (SNP) in the pro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc2176476f08ccdf42bfc7391bc1cac4
https://doi.org/10.1038/sj.bjc.6605279

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání