PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients

Autor: Daniele Giardiello, Maartje J. Hooning, Michael Hauptmann, Renske Keeman, B. A. M. Heemskerk-Gerritsen, Heiko Becher, Carl Blomqvist, Stig E. Bojesen, Manjeet K. Bolla, Nicola J. Camp, Kamila Czene, Peter Devilee, Diana M. Eccles, Peter A. Fasching, Jonine D. Figueroa, Henrik Flyger, Montserrat García-Closas, Christopher A. Haiman, Ute Hamann, John L. Hopper, Anna Jakubowska, Floor E. Leeuwen, Annika Lindblom, Jan Lubiński, Sara Margolin, Maria Elena Martinez, Heli Nevanlinna, Ines Nevelsteen, Saskia Pelders, Paul D. P. Pharoah, Sabine Siesling, Melissa C. Southey, Annemieke H. van der Hout, Liselotte P. van Hest, Jenny Chang-Claude, Per Hall, Douglas F. Easton, Ewout W. Steyerberg, Marjanka K. Schmidt

Publikováno v: Breast Cancer Research, Vol 24, Iss 1, Pp 1-14 (2022)

Abstract Background Prediction of contralateral breast cancer (CBC) risk is challenging due to moderate performances of the known risk factors. We aimed to improve our previous risk prediction model (PredictCBC) by updated follow-up and including add

Externí odkaz: https://doaj.org/article/b5a5b9d0ce744f35ba7c210786d10ea8

Phenotypic characterization of patients with deletions in the 3’-flanking SHOX region

Autor: Sarina G. Kant, Sander J. Broekman, Caroline C. de Wit, Marloes Bos, Sitha A. Scheltinga, Egbert Bakker, Wilma Oostdijk, Hetty J. van der Kamp, Erik W. van Zwet, Annemieke H. van der Hout, Jan M. Wit, Monique Losekoot

Publikováno v: PeerJ, Vol 1, p e35 (2013)

Context. Leri–Weill dyschondrosteosis is a clinically variable skeletal dysplasia, caused by SHOX deletion or mutations, or a deletion of enhancer sequences in the 3’-flanking region. Recently, a 47.5 kb recurrent PAR1 deletion downstream of SHOX

Externí odkaz: https://doaj.org/article/356f357943264f3db6ad633274a764e9

2022-RA-637-ESGO Five-year universal tumor screening ofBRCA1/2in epithelial ovarian carcinoma;is histotype-directed hr-deficiency testing justified?

Autor: Claire JH Kramer, Lieke Lanjouw, Arja ter Elst, Nienke Solleveld-Westerink, Hans M Hazelbag, Marjolein J Kagie, Els JM Ahsmann, Annemieke H van der Hout, Nienke van der Stoep, Cor D de Kroon, Katja N Gaarenstroom, Tom van Wezel, Lieke PV Berger, Vincent THBM Smit, Truuske H de Bock, Christi J van Asperen, Marian JE Mourits, Maaike PG Vreeswijk, Joost Bart, Tjalling Bosse

Publikováno v: Ovarian cancer.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a4b7d1bc3f3939fd14990dd4e0c103c4
https://doi.org/10.1136/ijgc-2022-esgo.532

Polygenic Risk Modelling for Prediction of Epithelial Ovarian Cancer Risk

Autor: V. Wendy Setiawan, Ana Osorio, Liv Cecilie Vestrheim Thomsen, Francesca Gensini, Harsha Pathak, Barbara Wappenschmidt, Ingo B. Runnebaum, Javier Benitez, Rita K. Schmutzler, Jeffrey N. Weitzel, Yin Ling Woo, Kenneth Offit, Anthony N. Karnezis, Eitan Friedman, Jacques Simard, James M. Flanagan, Pedro Pérez-Segura, Siranoush Manoukian, Melissa C. Southey, Ramunas Janavicius, Finn Cilius Nielsen, Graham G. Giles, Usha Menon, Ava Kwong, Anna H. Wu, Thomas Hansen, Cristina Rodríguez-Antona, Maria A. Caligo, Argyrios Ziogas, Allison DePersia, Anna P. Sokolenko, Clarice R. Weinberg, Hoda Anton-Culver, Digna R. Velez Edwards, Jennifer B. Permuth, Patricia A. Ganz, Ana Vega, Keitaro Matsuo, Heli Nevanlinna, Frances Wang, Natalia Antonenkova, Claudine Isaacs, Conxi Lázaro, Melissa C. Larson, Henriette Roed Nielsen, Byoung-Gie Kim, Andreas du Bois, Dale P. Sandler, Anna Jakubowska, Paul D.P. Pharoah, Jenny Lester, Paolo Radice, Natalia Bogdanova, Lambertus A. Kiemeney, Mary Anne Rossing, Thilo Dörk, Ruea-Yea Huang, Judy Garber, Taymaa May, Diana Eccles, Mary Beth Terry, Jenny Chang-Claude, Jeffrey R. Marks, Dominique Stoppa-Lyonnet, Heather Eliassen, Douglas A. Levine, Phuong L. Mai, Gerasimos Aravantinos, Hui Cai, Britton Trabert, Amanda Black, Noura Mebirouk, Robin de Putter, Rayna K. Matsuno, Ralf Bützow, Joanne Ngeow Yuen Yie, James D. Brenton, Nadine Tung, Drakoulis Yannoukakos, Jonathan Tyrer, L Yan, Yen Y. Tan, Ian Komenaka, Simona Agata, Honglin Song, Tanja Pejovic, Marjorie J. Riggan, Antonis C. Antoniou, Katja K.H. Aben, Goska Leslie, Eric A. Ross, Estrid Høgdall, Kang Shan, Holly R. Harris, Eleanor Davies, Liene Nikitina-Zake, Florian Heitz, Stephen J. Chanock, Matthew Jones, Beth Y. Karlan, Matthias W. Beckmann, Penelope M. Webb, John L. Hopper, Peter A. Fasching, Jacek Gronwald, kConFab Investigators, Ana Peixoto, Joellen M. Schildkraut, Renée T. Fortner, Susan L. Neuhausen, Daehee Kang, Anthony J. Swerdlow, Lesley McGuffog, Marco Montagna, Paolo Peterlongo, Daniel R. Barnes, Marina Bermisheva, Alicja Wolk, Yuan Chun Ding, Marc Tischkowitz, Gord Glendon, Elza Khusnutdinova, Julie M. Cunningham, Saundra S. Buys, Albina N. Minlikeeva, Jennifer A. Doherty, Annemieke H. van der Hout, Austin Miller, Fergus J. Couch, Fabienne Lesueur, Peter Devilee, Kristin K. Zorn, Daniel Barrowdale, Christian F. Singer, Line Bjørge, Åke Borg, Diether Lambrechts, Shelley S. Tworoger, Allan Jensen, Ute Hamann, Douglas F. Easton, Bernardo Bonanni, Alvaro N.A. Monteiro, Johanna Rantala, Marc T. Goodman, Ellen Valen, Wei Zheng, Thomas A. Sellers, Marcus Q. Bernardini, Alice S. Whittemore, Kunle Odunsi, Inge Søkilde Pedersen, Laura Papi, Mads Thomassen, Allison W. Kurian, Emily White, Penny Soucy, D. Gareth Evans, Lenka Foretova, Kathryn L. Terry, Ruth C. Travis, Claus Høgdall, Hebon Investigators, Darya Prokofyeva, Stacey J. Winham, Yoke-Eng Chiew, Eileen Dareng, Jan Lubinski, Elizabeth Munro, Oskar T. Johannsson, Linda E. Kelemen, Kexin Chen, Xin Yang, Manuel R. Teixeira, Anna M. Piskorz, Edith Olah, Helen Steed, Beth N. Peshkin, Georgia Chenevix-Trench, Andrew K. Godwin, Pamela J. Thompson, Chad D. Huff, Rosa B. Barkardottir, Muriel A. Adank, Mikael Hartman, Linda J. Titus, Weiva Sieh, Simon A. Gayther, Peter J. Hulick, Michael T. Parsons, Elisa V. Bandera, Amanda E. Toland, Miguel de la Hoya, Orland Diez, Alicia Beeghly-Fadiel, Rebecca Sutphen, Francesmary Modugno, Judith Balmaña, Christoph Engel, Harvey A. Risch, Elizabeth J. van Rensburg, Michael Jones, Rikki Cannioto, Michelle A.T. Hildebrandt, Soo Hwang Teo, Fanny Dao, Susan J. Ramus, Sarah Colanna, Kathleen Claes, David G. Huntsman, Siel Olbrecht, Esther M. John, Robert A. Vierkant, Wendy K. Chung, Ellen L. Goode, Olufunmilayo I. Olopade, Evgeny N. Imyanitov, Joe Dennis, Andrew Berchuck, Banu Arun, Darcy L. Thull, Lian Li, Celeste Leigh Pearce, Sue K. Park, Susan M. Domchek, Agnieszka Budzilowska, Håkan Olsson, Susanne K. Kjaer, Mark H. Greene, Katia M. Zavaglia, Jolanta Kupryjanczyk, Nicolas Wentzensen, Karen H. Lu, Hayley Cassingham, Christopher A. Haiman, Eric Hahnen, Els Van Nieuwenhuysen, Katherine L. Nathanson, Anna deFazio, Ian G. Campbell, Paul A. James, Sara H. Olson, Eva Machackova, Anne M. van Altena, Irene L. Andrulis, Linda S. Cook, Matthias Dürst, Mary B. Daly, John R. McLaughlin, Niclas Håkansson, Jingmei Li, Diana Torres, Iain A. McNeish, Jennifer T. Loud, Roger L. Milne, Marta Santamariña, Annelie Augustinsson, Nhu D. Le, Kate Lawrenson, Kirsten B. Moysich

Funder: Funding details are provided in the Supplementary Material
Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9aaa984ffc2cdcd6cfc6ec386fa3fa2

National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies

Autor: Marielle E. van Gijn, Kristin M. Abbott, Alexander Hoischen, Robert F Ernst, Manon M. H. Huibers, Kim Elsink, Taco W. Kuijpers, Evelien Zonneveld-Huijssoon, Lars T. van der Veken, Joris M. van Montfrans, Marc Pieterse, Iris H.I.M. Hollink, Annemieke H. van der Hout, Annet Simons

Publikováno v: European Journal of Human Genetics, 20-28. Nature Publishing Group
ISSUE=1;STARTPAGE=20;ENDPAGE=28;ISSN=1018-4813;TITLE=European Journal of Human Genetics
European Journal of Human Genetics, 29, 1, pp. 20-28
Eur J Hum Genet
European Journal of Human Genetics, 29(1), 20-28. Nature Publishing Group
European Journal of Human Genetics, 29, 20-28
European journal of human genetics, 29(1), 20-28. Nature Publishing Group

Contains fulltext : 231689.pdf (Publisher’s version ) (Closed access) Dutch genome diagnostic centers (GDC) use next-generation sequencing (NGS)-based diagnostic applications for the diagnosis of primary immunodeficiencies (PIDs). The interpretatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a021cc16bf91f1943b9688ac2cad7136
https://research.rug.nl/en/publications/1daac6ef-fd44-4f1c-b450-8ac07ec3dcfc