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

• DOI: 10.1158/1078-0432.23952435.v1
• Publication Date: 2023-08-15T08:58:48Z
• Authors: Lenka Stolarova; Petra Kleiblova; Petra Zemankova; Barbora Stastna; Marketa Janatova; Jana Soukupova; Maria Isabel Achatz; Christine Ambrosone; Paraskevi Apostolou; Banu K. Arun; Paul Auer; Mollie Barnard; Birgitte Bertelsen; Koichi Matsuda; Yoichiro Kamatani; 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. Burn...; Mariarosaria Calv...; Ian Campbell; Sock Hoai Chan; Fei Chen; Jian Bang Chiang; Anna Coppa; Laura Cortesi; Ana Crujeiras-Gon...; Marianna Borecka; Marta Cerna; Milena Hovhannisyan; Sandra Jelinkova; Petr Nehasil; Lenka Foretova; Eva Machackova; Vera Krutilkova; Spiros Tavandzis; Leona Cerna; Stepan Chvojka; Monika Koudova; Alena Puchmajerova; Ondrej Havranek; Jan Novotny; Kamila Vesela; Michal Vocka; Lucie Hruskova; Renata Michalovska; Denisa Schwetzova; Zdenka Vlckova; Monika Cerna; Marketa Hejnalova; Nikol Jedlickova; Ivan Subrt; Tomas Zavoral; Marcela Kosarova; Gabriela Vacinova; Maria Janikova; Romana Kratochvilova; Vaclava Curtisova; Radek Vrtel; Ondrej Scheinost; Petra Duskova; Viktor Stranecky; Kim De Leeneer; Robin De Putter; Allison DePersia; Lisa Devereux; Susan Domchek; Anna Efremidis; Christoph Engel; Corinna Ernst; D. Gareth R. Evans; Lidia Feliubadaló; Florentia Fostira; Olivia Fuentes-Ríos; Encarna B. Gómez-...; Sara González; Christopher Haiman; Thomas van Overee...; Jan Hauke; James Hodge; Chunling Hu; Hongyan Huang; Nur Diana Binte I...; Yusuke Iwasaki; Irene Konstantopo...; Peter Kraft; James Lacey; Conxi Lázaro; Na Li; Weng Khong Lim; Sara Lindstrom; Adriana Lori; Elana Martinez; Alexandra Martins; Koichi Matsuda; Giuseppe Matullo; Simone McInerny; Kyriaki Michailidou; Marco Montagna; Alvaro N.A. Monteiro; Luigi Mori; Katherine Nathanson; Susan L. Neuhausen; Heli Nevanlinna; Janet E. Olson; Julie Palmer; Barbara Pasini; Alpa Patel; Maria Piane; Bruce Poppe; Paolo Radice; Alessandra Renieri; Nicoletta Resta; Marcy E. Richardson; Toon Rosseel; Kathryn J. Ruddy; Marta Santamariña; Elizabeth Santana...; Lauren Teras; Amanda E. Toland; Amy Trentham-Dietz; Celine M. Vachon; Alexander E. Volk; Nana Weber-Lassalle; Jeffrey N. Weitzel; Lisa Wiesmuller; Stacey Winham; Siddhartha Yadav; Drakoulis Yannouk...; Song Yao; Valentina Zampiga; Magnus Zethoven; Ze Wen Zhang; Tomas Zima; Amanda B. Spurdle; Ana Vega; Maria Rossing; Jesús Del Valle; Arcangela De Nicolo; Eric Hahnen; Kathleen B.M. Claes; Joanne Ngeow; Yukihide Momozawa; Paul A. James; Fergus J. Couch; Libor Macurek; Zdenek Kleibl
• Keywords: CHEK2

&lt;p&gt;Presence of analyzed &lt;i&gt;CHEK2&lt;/i&gt; 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 risk (odds ratio; OR) were calculated for prevalent having ≥10 carriers among or controls, respectively. Colors numbers last column highlight significant moderate-or-higher (red; OR &gt; 2), low (OR &lt; protective (green) without impact on (black). Gray rows display that discordant kinase assays. DNL, do not localize into nucleus.&lt;/p&gt;