ENIGMA CHEK2gether Project : a comprehensive study identifies functionally impaired CHEK2 germline missense variants associated with increased breast cancer risk

Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2 variants of uncertain significance (VUS) have been identified, hamperin...

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Hauptverfasser:	Kleiblova, Petra, Zemankova, Petra, Janatova, Marketa, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Auer, Paul, Kamatani, Yoichiro, Muto, Kaori, Murakami, Yoshinori, Mushiroda, Taisei, Momozawa, Yukihide, Ohnishi, Yozo, Higashiue, Shinichi, Minami, Shiro, Arai, Hajime, Okazaki, Yasushi, Asai, Satoshi, Fujioka, Tomoaki, Obara, Wataru, Mori, Seijiro, Nagayama, Satoshi, Miki, Yoshio, Masumoto, Akihide, Yamada, Akira, Nishizawa, Yasuko, Kutsumi, Hiromu, Blok, Marinus J, Boddicker, Nicholas, Coppa, Anna, Cortesi, Laura, Borecka, Marianna, Hovhannisyan, Milena, Jelinkova, Sandra, Nehasil, Petr, Foretova, Lenka, Machackova, Eva, Krutilkova, Vera, Tavandzis, Spiros, Cerna, Leona, Chvojka, Stepan, Koudova, Monika, Puchmajerova, Alena, Novotny, Jan, Vesela, Kamila, Michalovska, Renata, Vlckova, Zdenka, Cerna, Monika, Hejnalova, Marketa, Kratochvilova, Romana, Curtisova, Vaclava, Scheinost, Ondrej, Stranecky, Viktor, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Haiman, Christopher, Hansen, Thomas van Overeem, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Lázaro, Conxi, Lindstrom, Sara, Martins, Alexandra, Matullo, Giuseppe, McInerny, Simone, Nathanson, Katherine, Neuhausen, Susan L, Palmer, Julie, Pasini, Barbara, Patel, Alpa, Poppe, Bruce, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E, Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Vachon, Celine M, Weber-Lassalle, Nana, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zhang, Ze Wen, Zima, Tomas, Vega, Ana, Rossing, Maria, Hahnen, Eric, Ngeow, Joanne, Couch, Fergus J, Kleibl, Zdenek
Format:	Artikel
Sprache:	eng
Schlagworte:	Biology and Life Sciences Cancer Research Medicine and Health Sciences Oncology
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