Accès ouvert déclaré
2023
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Figure 5 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová, Jana Soukupová, Maria Isabel Achatz, Christine B. Ambrosone, Paraskevi Apostolou, Banu Arun, Paul L. Auer, Mollie E. Barnard, Birgitte Bertelsen, Koichi Matsuda, Takayuki Morisaki, Akiko Nagai, Kaori Muto, Yoshinori Murakami, Yoichi Furukawa, Yuji Yamanashi, Yusuke Nakamura, Taisei Mushiroda, Yukihide Momozawa, Toshihiro Tanaka, Yozo Ohnishi, Michiaki Kubo, Shinichi Higashiue, Shuzo Kobayashi, Shiro Minami, Hiroki Yamaguhci, Hajime Arai, Ken Yamaji, Yasushi Okazaki, Satoshi Asai, Yasuo Takahashi, Tomoaki Fujioka, Wataru Obara, Seijiro Mori, Shigeo Murayama, Satoshi Nagayama, Yoshio Miki, Akihide Masumoto, Akira Yamada, Yasuko Nishizawa, Masahiko Higashiyama, Hiromu Kutsumi, Yukihiro Koretsune, Takashi Yoshiyama, Marinus J. Blok, Nicholas Boddicker, Joan Brunet, Elizabeth S. Burnside, Mariarosaria Calvello, Ian Campbell, Sock Hoai Chan, Fei Chen, Jianbang Chiang, Anna Coppa, Laura Cortesi, Ana Crujeiras-González, Marianna Borecká, Marta Černá, Milena Hovhannisyan, Sandra Jelínková, Petr Nehasil, Lenka Foretová, Eva Macháčková, Vera Krutilkova, Spiros Tavandzis, Leona Cerna, Štěpán Chvojka, Monika Koudová, Alena Puchmajerová, Ondřej Havránek, Jan Novotný, Kamila Veselá, Michal Vočka, Lucie Hrušková, Renata Michalovska, Denisa Schwetzova, Zdeňka Vlčková, Monika Černá, Markéta Hejnalová, Nikol Jedlickova, Ivan Šubrt, Tomas Zavoral, Marcela Kosařová, Gabriela Vacínová, Mária Janíková, Romana Kratochvílová, Václava Curtisová, Radek Vrtěl, Ondřej Scheinost, Petra Duskova, Viktor Stránecký, Kim De Leeneer, Robin De Putter, Allison DePersia, Lisa Devereux, Susan M. Domchek, Anna Efremidis, Christoph Engel, Corinna Ernst, D. Gareth Evans, Lídia Feliubadaló, Florentia Fostira, Olivia Fuentes-Ríos, E. Gómez, Sara González, Christopher A. Haiman, Thomas van Overeem Hansen, Jan Hauke, James M. Hodge, Chunling Hu, Hongyan Huang, Nur Diana Binte Ishak, Yusuke Iwasaki, Irene Konstantopoulou, Peter Kraft, James V. Lacey, Conxi Lázaro, Na Li, Weng Khong Lim, Sara Lindström, Adriana Lori, Elana Martinez, Alexandra Martins, Giuseppe Matullo, Simone McInerny, Kyriaki Michailidou, Marco Montagna, Álvaro N.A. Monteiro, Luigi Mori, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Janet E. Olson, Julie R. Palmer, Barbara Pasini, Alpa V. Patel, Maria Piane, Bruce Poppe, Paolo Radice, Alessandra Renieri, Nicoletta Resta, Marcy E. Richardson, Toon Rosseel, Kathryn J. Ruddy, Marta Santamariña, Elizabeth Santana Dos Santos, Lauren R. Teras, Amanda E. Toland, Amy Trentham‐Dietz, Celine M. Vachon, Alexander E. Volk, Nana Weber‐Lassalle, Jeffrey N. Weitzel, Lisa Wiesmüller, Stacey J. Winham, Siddhartha Yadav, Drakoulis Yannoukakos, Song Yao, Valentina Zampiga, Magnus Zethoven, Ze Wen Zhang, Tomáš Zima, Amanda B. Spurdle, Ana Vega, Maria Rossing, Jesús Del Valle, Arcangela De Nicolo, Eric Hahnen, Kathleen Claes, Joanne Ngeow, Paul A. James, Fergus J. Couch, Libor Macůrek, Zdeněk Kleibl
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Le résumé fourni par la source
Presence of analyzed CHEK2 missense variants categorized according to the functional assays in patients with breast cancer (BC pts; red numbers) and matched controls (dark green numbers). The association with breast cancer risk (odds ratio; OR) were calculated for prevalent variants having ≥10 carriers among patients or controls, respectively. Colors of the numbers in the last column highlight significant association with moderate-or-higher risk (red; OR > 2), low risk (OR < 2), protective variants (green) or variants without significant impact on breast cancer risk (black). Gray rows display variants that were discordant in the kinase assays. DNL, variants that do not localize into the nucleus.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé, mais le titre doit être comparé manuellement.
- Titre Crossref
- Figure 5 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
- Date Crossref
- 15/08/2023
- Éditeur
- American Association for Cancer Research (AACR)
- Type
- posted-content
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Les sujets associés
BRCA gene mutations in cancer