Article
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Clinical cancer research : an official journal of the American Association for Cancer Research - 15 Aug 2023
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, 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, 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
Abstract excerpt
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, hampering the clinical utility of germline genetic testing (GGT). EXPERIMENTAL DESIGN: We collected 460 CHEK2 missense VUS...