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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

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,Biobank Japan,Marinus J. Blok,Nicholas Boddicker,Joan Brunet,Elizabeth S. Burnside,Mariarosaria Calvello,Ian Campbell,Sock Hoai Chan,Fei Chen,Jian Bang Chiang,Anna Coppa,Laura Cortesi,Ana Crujeiras-Gonzalez, Consortium Czecanca,Kim De Leeneer,Robin De Putter,Allison DePersia,Lisa Devereux,Susan Domchek,Anna Efremidis,Christoph Engel,Corinna Ernst,D. Gareth R. Evans,Lidia Feliubadalo,Florentia Fostira,Olivia Fuentes-Rios,Encarna B. Gomez-Garcia,Sara Gonzalez,Christopher Haiman,Thomas van Overeem Hansen,Jan Hauke,James Hodge,Chunling Hu,Hongyan Huang,Nur Diana Binte Ishak,Yusuke Iwasaki,Irene Konstantopoulou,Peter Kraft,James Lacey,Conxi Lazaro,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 Santamarina,Elizabeth Santana Dos Santos,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 Yannoukakos,Song Yao,Valentina Zampiga,Magnus Zethoven,Ze Wen Zhang,Tomas Zima,Amanda B. Spurdle,Vega Ana,Maria Rossing,Jesus 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

CLINICAL CANCER RESEARCH（2023）

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关键词
cancer susceptibility,Cancer Risk,Genetic Testing,Breast Cancer,Exome Sequencing
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