Rare germline copy number variants (CNVs) and breast cancer risk.
Creators: name: Dennis, Joe
name: Tyrer, Jonathan
name: Walker, Logan C
name: Michailidou, Kyriaki
name: Wilson, Leila
name: Bolla, Manjeet K
name: Wang, Jean
name: Ahearn, Thomas U
name: Andrulis, Irene L
name: Anton-Culver, Hoda
name: Antonenkova, Natalia N
name: Arndt, Volker
name: Aronson, Kristan J
name: Freeman, Laura E Beane
name: Beckmann, Matthias W
name: Behrens, Sabine
name: Benitez, Javier
name: Bermisheva, Marina
name: Bogdanova, Natalia V
name: Bojesen, Stig E
name: Brenner, Hermann
name: Castelao, Jose E
name: Chang-Claude, Jenny
name: Chenevix-Trench, Georgia
name: Clarke, Christine L
name: NBCS Collaborators
name: Collée, J Margriet
name: CTS Consortium
name: Couch, Fergus J
name: Cox, Angela
name: Cross, Simon S
name: Czene, Kamila
name: Devilee, Peter
name: Dörk, Thilo
name: Dossus, Laure
name: Eliassen, A Heather
name: Eriksson, Mikael
name: Evans, D Gareth
name: Fasching, Peter A
name: Figueroa, Jonine
name: Fletcher, Olivia
name: Flyger, Henrik
name: Fritschi, Lin
name: Gabrielson, Marike
name: Gago-Dominguez, Manuela
name: García-Closas, Montserrat
name: Giles, Graham G
name: González-Neira, Anna
name: Guénel, Pascal
name: Hahnen, Eric
name: Haiman, Christopher A
name: Hall, Per
name: Hollestelle, Antoinette
name: Hoppe, Reiner
name: Hopper, John L
name: Howell, Anthony
name: ABCTB Investigators
name: KConFab/AOCS Investigators
name: Jager, Agnes
name: Jakubowska, Anna
name: John, Esther M
name: Johnson, Nichola
name: Jones, Michael E
name: Jung, Audrey
name: Kaaks, Rudolf
name: Keeman, Renske
name: Khusnutdinova, Elza
name: Kitahara, Cari M
name: Ko, Yon-Dschun
name: Kosma, Veli-Matti
name: Koutros, Stella
name: Kraft, Peter
name: Kristensen, Vessela N
name: Kubelka-Sabit, Katerina
name: Kurian, Allison W
name: Lacey, James V
name: Lambrechts, Diether
name: Larson, Nicole L
name: Linet, Martha
name: Ogrodniczak, Alicja
name: Mannermaa, Arto
name: Manoukian, Siranoush
name: Margolin, Sara
name: Mavroudis, Dimitrios
name: Milne, Roger L
name: Muranen, Taru A
name: Murphy, Rachel A
name: Nevanlinna, Heli
name: Olson, Janet E
name: Olsson, Håkan
name: Park-Simon, Tjoung-Won
name: Perou, Charles M
name: Peterlongo, Paolo
name: Plaseska-Karanfilska, Dijana
name: Pylkäs, Katri
name: Rennert, Gad
name: Saloustros, Emmanouil
name: Sandler, Dale P
name: Sawyer, Elinor J
name: Schmidt, Marjanka K
name: Schmutzler, Rita K
name: Shibli, Rana
name: Smeets, Ann
name: Soucy, Penny
name: Southey, Melissa C
name: Swerdlow, Anthony J
name: Tamimi, Rulla M
name: Taylor, Jack A
name: Teras, Lauren R
name: Terry, Mary Beth
name: Tomlinson, Ian
name: Troester, Melissa A
name: Truong, Thérèse
name: Vachon, Celine M
name: Wendt, Camilla
name: Winqvist, Robert
name: Wolk, Alicja
name: Yang, Xiaohong R
name: Zheng, Wei
name: Ziogas, Argyrios
name: Simard, Jacques
name: Dunning, Alison
name: Pharoah, Paul
name: Easton, Douglas
Publisher: name: Apollo - University of Cambridge Repository
Year: 2022
Subjects: Article
/631/67/1347
/631/208/205/2138
/45/43
article

description: Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding regions for 86,788 breast cancer cases and 76,122 controls of European ancestry with genome-wide array data. Gene burden tests detected the strongest association for deletions in BRCA1 (P = 3.7E-18). Nine other genes were associated with a p-value