Article
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Genome medicine - 18 May 2022
Dorling Leila, Carvalho Sara, Allen Jamie, Parsons Michael T, Fortuno Cristina, González-Neira Anna, Heijl Stephan M, Adank Muriel A, Ahearn Thomas U, Andrulis Irene L, Auvinen Päivi, Becher Heiko, Beckmann Matthias W, Behrens Sabine, Bermisheva Marina, Bogdanova Natalia V, Bojesen Stig E, Bolla Manjeet K, Bremer Michael, Briceno Ignacio, Camp Nicola J, Campbell Archie, Castelao Jose E, Chang-Claude Jenny, Chanock Stephen J, Chenevix-Trench Georgia, Collée J Margriet, Czene Kamila, Dennis Joe, Dörk Thilo, Eriksson Mikael, Evans D Gareth, Fasching Peter A, Figueroa Jonine, Flyger Henrik, Gabrielson Marike, Gago-Dominguez Manuela, García-Closas Montserrat, Giles Graham G, Glendon Gord, Guénel Pascal, Gündert Melanie, Hadjisavvas Andreas, Hahnen Eric, Hall Per, Hamann Ute, Harkness Elaine F, Hartman Mikael, Hogervorst Frans B L, Hollestelle Antoinette, Hoppe Reiner, Howell Anthony, Jakubowska Anna, Jung Audrey, Khusnutdinova Elza, Kim Sung-Won, Ko Yon-Dschun, Kristensen Vessela N, Lakeman Inge M M, Li Jingmei, Lindblom Annika, Loizidou Maria A, Lophatananon Artitaya, Lubiński Jan, Luccarini Craig, Madsen Michael J, Mannermaa Arto, Manoochehri Mehdi, Margolin Sara, Mavroudis Dimitrios, Milne Roger L, Mohd Taib Nur Aishah, Muir Kenneth, Nevanlinna Heli, Newman William G, Oosterwijk Jan C, Park Sue K, Peterlongo Paolo, Radice Paolo, Saloustros Emmanouil, Sawyer Elinor J, Schmutzler Rita K, Shah Mitul, Sim Xueling, Southey Melissa C, Surowy Harald, Suvanto Maija, Tomlinson Ian, Torres Diana, Truong Thérèse, van Asperen Christi J, Waltes Regina, Wang Qin, Yang Xiaohong R, Pharoah Paul D P, Schmidt Marjanka K, Benitez Javier, Vroling Bas, Dunning Alison M, Teo Soo Hwang, Kvist Anders, de la Hoya Miguel, Devilee Peter, Spurdle Amanda B, Vreeswijk Maaike P G, Easton Douglas F
Abstract excerpt
BACKGROUND: Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. METHODS: We analyzed data on 59,639 breast cancer cases and 53,165 controls from studies participating in the Breast Cancer Association Consortium BRIDGES project. We sampled training (80%) and validation (20%)...