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
Authors: Stolarova Lenka , Kleiblova Petra , Zemankova Petra , Stastna Barbora , Janatova Marketa , Soukupova Jana , Achatz Maria Isabel , Ambrosone Christine , Apostolou Paraskevi , Arun Banu K. , Auer Paul , Barnard Mollie , Bertelsen Birgitte , Matsuda Koichi , Kamatani Yoichiro , Morisaki Takayuki , Nagai Akiko , Muto Kaori , Murakami Yoshinori , Furukawa Yoichi , Yamanashi Yuji , Nakamura Yusuke , Mushiroda Taisei , Momozawa Yukihide , Tanaka Toshihiro , Ohnishi Yozo , Kubo Michiaki , Higashiue Shinichi , Kobayashi Shuzo , Minami Shiro , Yamaguhci Hiroki , Arai Hajime , Yamaji Ken , Okazaki Yasushi , Asai Satoshi , Takahashi Yasuo , Fujioka Tomoaki , Obara Wataru , Mori Seijiro , Murayama Shigeo , Nagayama Satoshi , Miki Yoshio , Masumoto Akihide , Yamada Akira , Nishizawa Yasuko , Higashiyama Masahiko , Kutsumi Hiromu , Koretsune Yukihiro , Yoshiyama Takashi , Blok Marinus J. , Boddicker Nicholas , Brunet Joan , Burnside Elizabeth S. , Calvello Mariarosaria , Campbell Ian , Chan Sock Hoai , Chen Fei , Chiang Jian Bang , Coppa Anna , Cortesi Laura , Crujeiras-González Ana , Borecka Marianna , Cerna Marta , Hovhannisyan Milena , Jelinkova Sandra , Nehasil Petr , Foretova Lenka , Machackova Eva , Krutilkova Vera , Tavandzis Spiros , Cerna Leona , Chvojka Stepan , Koudova Monika , Puchmajerova Alena , Havranek Ondrej , Novotny Jan , Vesela Kamila , Vocka Michal , Hruskova Lucie , Michalovska Renata , Schwetzova Denisa , Vlckova Zdenka , Cerna Monika , Hejnalova Marketa , Jedlickova Nikol , Subrt Ivan , Zavoral Tomas , Kosarova Marcela , Vacinova Gabriela , Janikova Maria , Kratochvilova Romana , Curtisova Vaclava , Vrtel Radek , Scheinost Ondrej , Duskova Petra , Stranecky Viktor , De Leeneer Kim , De Putter Robin , DePersia Allison , Devereux Lisa , Domchek Susan , Efremidis Anna , Engel Christoph , Ernst Corinna , Evans D. Gareth R. , Feliubadaló Lidia , Fostira Florentia , Fuentes-Ríos Olivia , Gómez-García Encarna B. , González Sara , Haiman Christopher , Hansen Thomas van Overeem , Hauke Jan , Hodge James , Hu Chunling , Huang Hongyan , Ishak Nur Diana Binte , Iwasaki Yusuke , Konstantopoulou Irene , Kraft Peter , Lacey James , Lázaro Conxi , Li Na , Lim Weng Khong , Lindstrom Sara , Lori Adriana , Martinez Elana , Martins Alexandra , Matsuda Koichi , Matullo Giuseppe , McInerny Simone , Michailidou Kyriaki , Montagna Marco , Monteiro Alvaro N.A. , Mori Luigi , Nathanson Katherine , Neuhausen Susan L. , Nevanlinna Heli , Olson Janet E. , Palmer Julie , Pasini Barbara , Patel Alpa , Piane Maria , Poppe Bruce , Radice Paolo , Renieri Alessandra , Resta Nicoletta , Richardson Marcy E. , Rosseel Toon , Ruddy Kathryn J. , Santamariña Marta , Dos Santos Elizabeth Santana , Teras Lauren , Toland Amanda E. , Trentham-Dietz Amy , Vachon Celine M. , Volk Alexander E. , Weber-Lassalle Nana , Weitzel Jeffrey N. , Wiesmuller Lisa , Winham Stacey , Yadav Siddhartha , Yannoukakos Drakoulis , Yao Song , Zampiga Valentina , Zethoven Magnus , Zhang Ze Wen , Zima Tomas , Spurdle Amanda B. , Vega Ana , Rossing Maria , Del Valle Jesús , De Nicolo Arcangela , Hahnen Eric , Claes Kathleen B.M. , Ngeow Joanne , Momozawa Yukihide , James Paul A. , Couch Fergus J. , Macurek Libor , Kleibl Zdenek 
Published: August 2023

<p>Presence of analyzed <i>CHEK2</i> 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.</p>