%0 Journal Article
%A Figlioli, Gisella
%A Billaud, Amandine
%A Ahearn, Thomas U
%A Antonenkova, Natalia N
%A Becher, Heiko
%A Beckmann, Matthias W
%A Behrens, Sabine
%A Benitez, Javier
%A Bermisheva, Marina
%A Blok, Marinus J
%A Bogdanova, Natalia V
%A Bonanni, Bernardo
%A Burwinkel, Barbara
%A Camp, Nicola J
%A Campbell, Archie
%A Castelao, Jose E
%A Cessna, Melissa H
%A Chanock, Stephen J
%A Czene, Kamila
%A Devilee, Peter
%A Dörk, Thilo
%A Engel, Christoph
%A Eriksson, Mikael
%A Fasching, Peter A
%A Figueroa, Jonine D
%A Gabrielson, Marike
%A Gago-Dominguez, Manuela
%A García-Closas, Montserrat
%A González-Neira, Anna
%A Grassmann, Felix
%A Guénel, Pascal
%A Gündert, Melanie
%A Hadjisavvas, Andreas
%A Hahnen, Eric
%A Hall, Per
%A Hamann, Ute
%A Harrington, Patricia A
%A He, Wei
%A Hillemanns, Peter
%A Hollestelle, Antoinette
%A Hooning, Maartje J
%A Hoppe, Reiner
%A Howell, Anthony
%A Humphreys, Keith
%A Jager, Agnes
%A Jakubowska, Anna
%A Khusnutdinova, Elza K
%A Ko, Yon-Dschun
%A Kristensen, Vessela N
%A Lindblom, Annika
%A Lissowska, Jolanta
%A Lubiński, Jan
%A Mannermaa, Arto
%A Manoukian, Siranoush
%A Margolin, Sara
%A Mavroudis, Dimitrios
%A Newman, William G
%A Obi, Nadia
%A Panayiotidis, Mihalis I
%A Rashid, Muhammad U
%A Rhenius, Valerie
%A Rookus, Matti A
%A Saloustros, Emmanouil
%A Sawyer, Elinor J
%A Schmutzler, Rita K
%A Shah, Mitul
%A Sironen, Reijo
%A Southey, Melissa C
%A Suvanto, Maija
%A Tollenaar, Rob A E M
%A Tomlinson, Ian
%A Truong, Thérèse
%A van der Kolk, Lizet E
%A van Veen, Elke M
%A Wappenschmidt, Barbara
%A Yang, Xiaohong R
%A Bolla, Manjeet K
%A Dennis, Joe
%A Dunning, Alison M
%A Easton, Douglas F
%A Lush, Michael
%A Michailidou, Kyriaki
%A Pharoah, Paul D P
%A Wang, Qin
%A Adank, Muriel A
%A Schmidt, Marjanka K
%A Andrulis, Irene L
%A Chang-Claude, Jenny
%A Nevanlinna, Heli
%A Chenevix-Trench, Georgia
%A Evans, D Gareth
%A Milne, Roger L
%A Radice, Paolo
%A Peterlongo, Paolo
%T FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.
%J European journal of human genetics
%V 31
%N 5
%@ 1018-4813
%C Basingstoke
%I Stockton Press
%M DKFZ-2023-00235
%P 578-587
%D 2023
%Z 2023 May;31(5):578-587
%X 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 to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry. Sixteen common MVs were tested individually; the remaining rare 673 MVs were tested by burden analyses considering their position and pathogenicity score. We also conducted a meta-analysis of our results and those from published studies. We did not find evidence for association for any of the 16 variants individually tested. The rare MVs were significantly associated with increased risk of ER-negative breast cancer by burden analysis comparing familial cases to controls (OR = 1.48; 95
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:36707629
%R 10.1038/s41431-022-01257-w
%U https://inrepo02.dkfz.de/record/212550