Article
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.
European journal of human genetics : EJHG - 1 May 2023
Figlioli Gisella, Billaud Amandine, Ahearn Thomas U, Antonenkova Natalia N, Becher Heiko, Beckmann Matthias W, Behrens Sabine, Benitez Javier, Bermisheva Marina, Blok Marinus J, Bogdanova Natalia V, Bonanni Bernardo, Burwinkel Barbara, Camp Nicola J, Campbell Archie, Castelao Jose E, Cessna Melissa H, Chanock Stephen J, Czene Kamila, Devilee Peter, Dörk Thilo, Engel Christoph, Eriksson Mikael, Fasching Peter A, Figueroa Jonine D, Gabrielson Marike, Gago-Dominguez Manuela, García-Closas Montserrat, González-Neira Anna, Grassmann Felix, Guénel Pascal, Gündert Melanie, Hadjisavvas Andreas, Hahnen Eric, Hall Per, Hamann Ute, Harrington Patricia A, He Wei, Hillemanns Peter, Hollestelle Antoinette, Hooning Maartje J, Hoppe Reiner, Howell Anthony, Humphreys Keith, Jager Agnes, Jakubowska Anna, Khusnutdinova Elza K, Ko Yon-Dschun, Kristensen Vessela N, Lindblom Annika, Lissowska Jolanta, Lubiński Jan, Mannermaa Arto, Manoukian Siranoush, Margolin Sara, Mavroudis Dimitrios, Newman William G, Obi Nadia, Panayiotidis Mihalis I, Rashid Muhammad U, Rhenius Valerie, Rookus Matti A, Saloustros Emmanouil, Sawyer Elinor J, Schmutzler Rita K, Shah Mitul, Sironen Reijo, Southey Melissa C, Suvanto Maija, Tollenaar Rob A E M, Tomlinson Ian, Truong Thérèse, van der Kolk Lizet E, van Veen Elke M, Wappenschmidt Barbara, Yang Xiaohong R, Bolla Manjeet K, Dennis Joe, Dunning Alison M, Easton Douglas F, Lush Michael, Michailidou Kyriaki, Pharoah Paul D P, Wang Qin, Adank Muriel A, Schmidt Marjanka K, Andrulis Irene L, Chang-Claude Jenny, Nevanlinna Heli, Chenevix-Trench Georgia, Evans D Gareth, Milne Roger L, Radice Paolo, Peterlongo Paolo
Abstract excerpt
Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study...