Supplementary Tables and References from BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Autor: Fergus J. Couch, Maaike P.G. Vreeswijk, Aura Carreira, David E. Goldgar, Alvaro N.A. Monteiro, Harry Vrieling, Peter Devilee, Amanda Spurdle, Douglas F. Easton, Setareh Moghadasi, Liliana Varesco, Kathleen B.M. Claes, Florentia Fostira, Lenka Foretova, Logan Walker, Jennifer Leary, Ying Zheng, Wei Zheng, Jyh-Cherng Yu, Anna H. Wu, Robert Winqvist, Qin Wang, Lizet E. van der Kolk, Christi J. van Asperen, Thérèse Truong, Diana Torres, Ian Tomlinson, Soo H. Teo, Anthony Swerdlow, Daniel O. Stram, Melissa C. Southey, Susan Slager, Xiao-Ou Shu, Martha Shrubsole, Chen-Yang Shen, Mitul Shah, Caroline Seynaeve, Minouk J. Schoemaker, Marjanka K. Schmidt, Elinor J. Sawyer, Suleeporn Sangrajrang, Anja Rudolph, Valerie Rhenius, Muhammad Usman Rashid, Paolo Radice, Katri Pylkäs, Paul D.P. Pharoah, Julian Peto, Paolo Peterlongo, Ana Osorio, Jan J.C. Oosterwijk, Curtis Olswold, Janet E. Olson, Heli Nevanlinna, Susan L. Neuhausen, Kenneth Muir, Roger L. Milne, Kyriaki Michailidou, Hui Miao, Keitaro Matsuo, Frederik Marme, Sara Margolin, Arto Mannermaa, Eva Machackova, Jan Lubinski, Artitaya Lophatananon, Annika Lindblom, Jingmei Li, Loic Le Marchand, Diether Lambrechts, Kah-Nyin Lai, Vessela Kristensen, Veli-Matti Kosma, Daehee Kang, Anna Jakubowska, Hidemi Ito, John L. Hopper, Antoinette Hollestelle, Frans B. Hogervorst, Mikael Hartman, Ute Hamann, Per Hall, Christopher A. Haiman, Pascal Guénel, Gord Glendon, Graham G. Giles, Montserrat García-Closas, Henrik Flyger, Jonine Figueroa, Peter A. Fasching, Alison M. Dunning, Isabel dos-Santos-Silva, Thilo Dörk, Joe Dennis, Hatef Darabi, Kamila Czene, Simon S. Cross, Angela Cox, J. Margriet Collée, Ji-Yeob Choi, Ching-Yu Cheng, Georgia Chenevix-Trench, Jenny Chang-Claude, Barbara Burwinkel, Thomas Brüning, Barbara Brouwers, Annegien Broeks, Hermann Brenner, Paul Brennan, Hiltrud Brauch, Anne-Lise Borresen-Dale, Manjeet K. Bolla, Stig E. Bojesen, Natalia V. Bogdanova, Javier Benitez, Matthias W. Beckmann, Volker Arndt, Hoda Anton-Culver, Irene Andrulis, Kristiina Aittomäki, Cora M. Aalfs, Chunling Hu, Jenna Lilyquist, Jamie Hinton, Emily Hallberg, Huong Meeks, Fabienne M.G.R. Calléja, Charlotte Martin, Lucia Guidugli, Asa Ehlen, Catharina Von Nicolai, Romy L.S. Mesman, Hermela Shimelis

Table S1: Description of the BCAC studies contributing to COGS. Table S2: Predicted effects of BRCA1 and BRCA2 variants included in the iCOGS array on protein function. Table S3: Frequency of BRCA1 and BRCA2 variants from iCOGS in breast cancer cases

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https://doi.org/10.1158/0008-5472.22412703.v1

Supplementary Figures from BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Autor: Fergus J. Couch, Maaike P.G. Vreeswijk, Aura Carreira, David E. Goldgar, Alvaro N.A. Monteiro, Harry Vrieling, Peter Devilee, Amanda Spurdle, Douglas F. Easton, Setareh Moghadasi, Liliana Varesco, Kathleen B.M. Claes, Florentia Fostira, Lenka Foretova, Logan Walker, Jennifer Leary, Ying Zheng, Wei Zheng, Jyh-Cherng Yu, Anna H. Wu, Robert Winqvist, Qin Wang, Lizet E. van der Kolk, Christi J. van Asperen, Thérèse Truong, Diana Torres, Ian Tomlinson, Soo H. Teo, Anthony Swerdlow, Daniel O. Stram, Melissa C. Southey, Susan Slager, Xiao-Ou Shu, Martha Shrubsole, Chen-Yang Shen, Mitul Shah, Caroline Seynaeve, Minouk J. Schoemaker, Marjanka K. Schmidt, Elinor J. Sawyer, Suleeporn Sangrajrang, Anja Rudolph, Valerie Rhenius, Muhammad Usman Rashid, Paolo Radice, Katri Pylkäs, Paul D.P. Pharoah, Julian Peto, Paolo Peterlongo, Ana Osorio, Jan J.C. Oosterwijk, Curtis Olswold, Janet E. Olson, Heli Nevanlinna, Susan L. Neuhausen, Kenneth Muir, Roger L. Milne, Kyriaki Michailidou, Hui Miao, Keitaro Matsuo, Frederik Marme, Sara Margolin, Arto Mannermaa, Eva Machackova, Jan Lubinski, Artitaya Lophatananon, Annika Lindblom, Jingmei Li, Loic Le Marchand, Diether Lambrechts, Kah-Nyin Lai, Vessela Kristensen, Veli-Matti Kosma, Daehee Kang, Anna Jakubowska, Hidemi Ito, John L. Hopper, Antoinette Hollestelle, Frans B. Hogervorst, Mikael Hartman, Ute Hamann, Per Hall, Christopher A. Haiman, Pascal Guénel, Gord Glendon, Graham G. Giles, Montserrat García-Closas, Henrik Flyger, Jonine Figueroa, Peter A. Fasching, Alison M. Dunning, Isabel dos-Santos-Silva, Thilo Dörk, Joe Dennis, Hatef Darabi, Kamila Czene, Simon S. Cross, Angela Cox, J. Margriet Collée, Ji-Yeob Choi, Ching-Yu Cheng, Georgia Chenevix-Trench, Jenny Chang-Claude, Barbara Burwinkel, Thomas Brüning, Barbara Brouwers, Annegien Broeks, Hermann Brenner, Paul Brennan, Hiltrud Brauch, Anne-Lise Borresen-Dale, Manjeet K. Bolla, Stig E. Bojesen, Natalia V. Bogdanova, Javier Benitez, Matthias W. Beckmann, Volker Arndt, Hoda Anton-Culver, Irene Andrulis, Kristiina Aittomäki, Cora M. Aalfs, Chunling Hu, Jenna Lilyquist, Jamie Hinton, Emily Hallberg, Huong Meeks, Fabienne M.G.R. Calléja, Charlotte Martin, Lucia Guidugli, Asa Ehlen, Catharina Von Nicolai, Romy L.S. Mesman, Hermela Shimelis

Figure S1: BCRA2 p.Y3035S Pedigrees. Figure S2: Western blot of ectopically expressed full-length wildtype and mutant hBRCA2 protein in VC8 DR-GFP cells subjected to HDR assay. Figure S3: Purification of wildtype and mutant BRCA2 from human cells. Fi

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https://doi.org/10.1158/0008-5472.22412706

Generation of CAIX-specific CAR-NK targeting renal cell carcinoma

Autor: J.C. Oosterwijk-Wakka, M.C.A. De Weijert, J.Y. Xu, A.N. Kenyon, D.J.J. Lintsen, P.K.J.D. De Jonge, H. Dolstra, P.F.A. Mulders, E. Oosterwijk

Publikováno v: European Urology Open Science. 44:S164

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https://doi.org/10.1016/s2666-1683(22)01931-0

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Description of the EuroTARGET cohort: A European collaborative project on TArgeted therapy in renal cell cancer-GEnetic- and tumor-related biomarkers for response and toxicity

Autor: Henk-Jan Guchelaar, Max Roessler, Arna Oskarsdottir, Thorunn Rafnar, Meta H M Diekstra, Valentin Ambert, Rosa Guarch Troyas, Lambertus A. Kiemeney, Kerstin Junker, Anna Martinez-Cardus, J.C. Oosterwijk-Wakka, Gisli Masson, Jesus Garcia Donas, Anne Cambon-Thomsen, Lodewyk F. A. Wessels, Tim Eisen, Cristina Rodríguez-Antona, Achim Fritsch, Ulrich Jaehde, Marius T. Radu, Arndt Hartmann, Sita H. Vermeulen, Daniel Castellano, Anne Y. Warren, Kari Stefansson, Loes F.M. van der Zanden, Jake S.F. Maurits, Egbert Oosterwijk, Christina A. Hulsbergen-van de Kaa, Rob Ruijtenbeek

Publikováno v: Urologic Oncology-Seminars and Original Investigations, 35, 8, pp. 529.e9-529.e16
Urologic Oncology-Seminars and Original Investigations, 35, 529.e9-529.e16
Urologic oncology-seminars and Original Investigations, 35(8):ARTN 529.e9. Elsevier Science
Repisalud
Instituto de Salud Carlos III (ISCIII)
Urologic Oncology: Seminars and Original Investigations, 35(8)

OBJECTIVE: For patients with metastatic renal cell cancer (mRCC), treatment choice is mainly based on clinical parameters. With many treatments available and the limited response to treatment and associated toxicities, there is much interest in ident

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b27ac13d3e48403246a3373a7273b5a
https://hdl.handle.net/2066/177333