Article
The impact of coding germline variants on contralateral breast cancer risk and survival.
American journal of human genetics - 2 Mar 2023
Morra Anna, Mavaddat Nasim, Muranen Taru A, Ahearn Thomas U, Allen Jamie, Andrulis Irene L, Auvinen Päivi, Becher Heiko, Behrens Sabine, Blomqvist Carl, Bojesen Stig E, Bolla Manjeet K, Brauch Hiltrud, Camp Nicola J, Carvalho Sara, Castelao Jose E, Cessna Melissa H, Chang-Claude Jenny, Chenevix-Trench Georgia, Czene Kamila, Decker Brennan, Dennis Joe, Dörk Thilo, Dorling Leila, Dunning Alison M, Ekici Arif B, Eriksson Mikael, Evans D Gareth, Fasching Peter A, Figueroa Jonine D, Flyger Henrik, Gago-Dominguez Manuela, García-Closas Montserrat, Geurts-Giele Willemina R R, Giles Graham G, Guénel Pascal, Gündert Melanie, Hahnen Eric, Hall Per, Hamann Ute, Harrington Patricia A, He Wei, Heikkilä Päivi, Hooning Maartje J, Hoppe Reiner, Howell Anthony, Humphreys Keith, Jakubowska Anna, Jung Audrey Y, Keeman Renske, Kristensen Vessela N, Lubiński Jan, Mannermaa Arto, Manoochehri Mehdi, Manoukian Siranoush, Margolin Sara, Mavroudis Dimitrios, Milne Roger L, Mulligan Anna Marie, Newman William G, Park-Simon Tjoung-Won, Peterlongo Paolo, Pharoah Paul D P, Rhenius Valerie, Saloustros Emmanouil, Sawyer Elinor J, Schmutzler Rita K, Shah Mitul, Spurdle Amanda B, Tomlinson Ian, Truong Thérèse, van Veen Elke M, Vreeswijk Maaike P G, Wang Qin, Wendt Camilla, Yang Xiaohong R, Nevanlinna Heli, Devilee Peter, Easton Douglas F, Schmidt Marjanka K
Abstract excerpt
Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contralateral breast cancer (CBC) risk and breast cancer-specific survival (BCSS) is scarce. The aim of this study was to assess the association of protein-truncating variants (PTVs) and rare missense variants (MSVs) in nine known (ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, RAD51D, and...
Topics
- Female
