Article
Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset.
American journal of human genetics - 5 Sept 2024
Davidson Aimee L, Michailidou Kyriaki, Parsons Michael T, Fortuno Cristina, Bolla Manjeet K, Wang Qin, Dennis Joe, Naven Marc, Abubakar Mustapha, Ahearn Thomas U, Alonso M Rosario, Andrulis Irene L, Antoniou Antonis C, Auvinen Päivi, Behrens Sabine, Bermisheva Marina A, Bogdanova Natalia V, Bojesen Stig E, Brüning Thomas, Byers Helen J, Camp Nicola J, Campbell Archie, Castelao Jose E, Cessna Melissa H, Chang-Claude Jenny, Chanock Stephen J, Chenevix-Trench Georgia, Collée J Margriet, Czene Kamila, Dörk Thilo, Eriksson Mikael, Evans D Gareth, Fasching Peter A, Figueroa Jonine D, Flyger Henrik, Gago-Dominguez Manuela, García-Closas Montserrat, Glendon Gord, González-Neira Anna, Grassmann Felix, Gronwald Jacek, Guénel Pascal, Hadjisavvas Andreas, Haeberle Lothar, Hall Per, Hamann Ute, Hartman Mikael, Ho Peh Joo, Hooning Maartje J, Hoppe Reiner, Howell Anthony, Jakubowska Anna, Khusnutdinova Elza K, Kristensen Vessela N, Li Jingmei, Lim Joanna, Lindblom Annika, Liu Jenny, Lophatananon Artitaya, Mannermaa Arto, Mavroudis Dimitrios A, Mensenkamp Arjen R, Milne Roger L, Muir Kenneth R, Newman William G, Obi Nadia, Panayiotidis Mihalis I, Park Sue K, Park-Simon Tjoung-Won, Peterlongo Paolo, Radice Paolo, Rashid Muhammad U, Rhenius Valerie, Saloustros Emmanouil, Sawyer Elinor J, Schmidt Marjanka K, Seibold Petra, Shah Mitul, Southey Melissa C, Teo Soo Hwang, Tomlinson Ian, Torres Diana, Truong Thérèse, van de Beek Irma, van der Hout Annemieke H, Wendt Camilla C, Dunning Alison M, Pharoah Paul D P, Devilee Peter, Easton Douglas F, James Paul A, Spurdle Amanda B
Abstract excerpt
Co-observation of a gene variant with a pathogenic variant in another gene that explains the disease presentation has been designated as evidence against pathogenicity for commonly used variant classification guidelines. Multiple variant curation expert panels have specified, from consensus opinion, that this evidence type is not applicable for the classification of breast cancer predisposition gene variants....