%0 Journal Article
%A Dorling, Leila
%A Carvalho, Sara
%A Allen, Jamie
%A González-Neira, Anna
%A Luccarini, Craig
%A Wahlström, Cecilia
%A Pooley, Karen A
%A Parsons, Michael T
%A Fortuno, Cristina
%A Wang, Qin
%A Bolla, Manjeet K
%A Dennis, Joe
%A Keeman, Renske
%A Alonso, M Rosario
%A Álvarez, Nuria
%A Herraez, Belen
%A Fernandez, Victoria
%A Núñez-Torres, Rocio
%A Osorio, Ana
%A Valcich, Jeanette
%A Li, Minerva
%A Törngren, Therese
%A Harrington, Patricia A
%A Baynes, Caroline
%A Conroy, Don M
%A Decker, Brennan
%A Fachal, Laura
%A Mavaddat, Nasim
%A Ahearn, Thomas
%A Aittomäki, Kristiina
%A Antonenkova, Natalia N
%A Arnold, Norbert
%A Arveux, Patrick
%A Ausems, Margreet G E M
%A Auvinen, Päivi
%A Becher, Heiko
%A Beckmann, Matthias W
%A Behrens, Sabine
%A Bermisheva, Marina
%A Białkowska, Katarzyna
%A Blomqvist, Carl
%A Bogdanova, Natalia V
%A Bogdanova-Markov, Nadja
%A Bojesen, Stig E
%A Bonanni, Bernardo
%A Børresen-Dale, Anne-Lise
%A Brauch, Hiltrud
%A Bremer, Michael
%A Briceno, Ignacio
%A Brüning, Thomas
%A Burwinkel, Barbara
%A Cameron, David A
%A Camp, Nicola J
%A Campbell, Archie
%A Carracedo, Angel
%A Castelao, Jose E
%A Cessna, Melissa H
%A Chanock, Stephen J
%A Christiansen, Hans
%A Collée, J Margriet
%A Cordina-Duverger, Emilie
%A Cornelissen, Sten
%A Czene, Kamila
%A Dörk, Thilo
%A Ekici, Arif B
%A Engel, Christoph
%A Eriksson, Mikael
%A Fasching, Peter A
%A Figueroa, Jonine
%A Flyger, Henrik
%A Försti, Asta
%A Gabrielson, Marike
%A Gago-Dominguez, Manuela
%A Georgoulias, Vassilios
%A Gil, Fabian
%A Giles, Graham G
%A Glendon, Gord
%A Garcia, Encarna B Gómez
%A Alnæs, Grethe I Grenaker
%A Guénel, Pascal
%A Hadjisavvas, Andreas
%A Haeberle, Lothar
%A Hahnen, Eric
%A Hall, Per
%A Hamann, Ute
%A Harkness, Elaine F
%A Hartikainen, Jaana M
%A Hartman, Mikael
%A He, Wei
%A Heemskerk-Gerritsen, Bernadette A M
%A Hillemanns, Peter
%A Hogervorst, Frans B L
%A Hollestelle, Antoinette
%A Ho, Weang Kee
%A Hooning, Maartje J
%A Howell, Anthony
%A Humphreys, Keith
%A Idris, Faiza
%A Jakubowska, Anna
%A Jung, Audrey
%A Kapoor, Pooja Middha
%A Kerin, Michael J
%A Khusnutdinova, Elza
%A Kim, Sung-Won
%A Ko, Yon-Dschun
%A Kosma, Veli-Matti
%A Kristensen, Vessela N
%A Kyriacou, Kyriacos
%A Lakeman, Inge M M
%A Lee, Jong Won
%A Lee, Min Hyuk
%A Li, Jingmei
%A Lindblom, Annika
%A Lo, Wing-Yee
%A Loizidou, Maria A
%A Lophatananon, Artitaya
%A Lubiński, Jan
%A MacInnis, Robert J
%A Madsen, Michael J
%A Mannermaa, Arto
%A Manoochehri, Mehdi
%A Manoukian, Siranoush
%A Margolin, Sara
%A Martinez, Maria Elena
%A Maurer, Tabea
%A Mavroudis, Dimitrios
%A McLean, Catriona
%A Meindl, Alfons
%A Mensenkamp, Arjen R
%A Michailidou, Kyriaki
%A Miller, Nicola
%A Mohd Taib, Nur Aishah
%A Muir, Kenneth
%A Mulligan, Anna Marie
%A Nevanlinna, Heli
%A Newman, William G
%A Nordestgaard, Børge G
%A Ng, Pei-Sze
%A Oosterwijk, Jan C
%A Park, Sue K
%A Park-Simon, Tjoung-Won
%A Perez, Jose I A
%A Peterlongo, Paolo
%A Porteous, David J
%A Prajzendanc, Karolina
%A Prokofyeva, Darya
%A Radice, Paolo
%A Rashid, Muhammad U
%A Rhenius, Valerie
%A Rookus, Matti A
%A Rüdiger, Thomas
%A Saloustros, Emmanouil
%A Sawyer, Elinor J
%A Schmutzler, Rita K
%A Schneeweiss, Andreas
%A Schürmann, Peter
%A Shah, Mitul
%A Sohn, Christof
%A Southey, Melissa C
%A Surowy, Harald
%A Suvanto, Maija
%A Thanasitthichai, Somchai
%A Tomlinson, Ian
%A Torres, Diana
%A Truong, Thérèse
%A Tzardi, Maria
%A Valova, Yana
%A van Asperen, Christi J
%A Van Dam, Rob M
%A van den Ouweland, Ans M W
%A van der Kolk, Lizet E
%A van Veen, Elke M
%A Wendt, Camilla
%A Williams, Justin A
%A Yang, Xiaohong R
%A Yoon, Sook-Yee
%A Zamora, M Pilar
%A Evans, D Gareth
%A de la Hoya, Miguel
%A Simard, Jacques
%A Antoniou, Antonis C
%A Borg, Åke
%A Andrulis, Irene L
%A Chang-Claude, Jenny
%A García-Closas, Montserrat
%A Chenevix-Trench, Georgia
%A Milne, Roger L
%A Pharoah, Paul D P
%A Schmidt, Marjanka K
%A Spurdle, Amanda B
%A Vreeswijk, Maaike P G
%A Benitez, Javier
%A Dunning, Alison M
%A Kvist, Anders
%A Teo, Soo H
%A Devilee, Peter
%A Easton, Douglas F
%T Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
%J The New England journal of medicine
%V 384
%N 5
%@ 1533-4406
%C Waltham, Mass.
%I MMS
%M DKFZ-2021-00156
%P 428-439
%D 2021
%Z 2021 Feb 4;384(5):428-439
%X Genetic testing for breast cancer susceptibility is widely used, but for many genes, evidence of an association with breast cancer is weak, underlying risk estimates are imprecise, and reliable subtype-specific risk estimates are lacking.We used a panel of 34 putative susceptibility genes to perform sequencing on samples from 60,466 women with breast cancer and 53,461 controls. In separate analyses for protein-truncating variants and rare missense variants in these genes, we estimated odds ratios for breast cancer overall and tumor subtypes. We evaluated missense-variant associations according to domain and classification of pathogenicity.Protein-truncating variants in 5 genes (ATM, BRCA1, BRCA2, CHEK2, and PALB2) were associated with a risk of breast cancer overall with a P value of less than 0.0001. Protein-truncating variants in 4 other genes (BARD1, RAD51C, RAD51D, and TP53) were associated with a risk of breast cancer overall with a P value of less than 0.05 and a Bayesian false-discovery probability of less than 0.05. For protein-truncating variants in 19 of the remaining 25 genes, the upper limit of the 95
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:33471991
%R 10.1056/NEJMoa1913948
%U https://inrepo02.dkfz.de/record/167135