Now showing items 1-4 of 4

    • BRCA1 and BRCA2 tumor suppressors protect against endogenous acetaldehyde toxicity. 

      Tacconi, EM; Lai, X; Folio, C; Porru, M; Zonderland, G; Badie, S; Michl, J; Sechi, I; Rogier, M; Matía García, V; Batra, AS; Rueda, OM; Bouwman, P; Jonkers, J; Ryan, A; Reina-San-Martin, B; Hui, J; Tang, N; Bruna, A; Biroccio, A; Tarsounas, M (2017-10)
      Maintenance of genome integrity requires the functional interplay between Fanconi anemia (FA) and homologous recombination (HR) repair pathways. Endogenous acetaldehyde, a product of cellular metabolism, is a potent source ...
    • Cryo-EM structures of the XPF-ERCC1 endonuclease reveal how DNA-junction engagement disrupts an auto-inhibited conformation. 

      Jones, M; Beuron, F; Borg, A; Nans, A; Earl, CP; Briggs, DC; Snijders, AP; Bowles, M; Morris, EP; Linch, M; McDonald, NQ (2020-02-28)
      The structure-specific endonuclease XPF-ERCC1 participates in multiple DNA damage repair pathways including nucleotide excision repair (NER) and inter-strand crosslink repair (ICLR). How XPF-ERCC1 is catalytically activated ...
    • Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links. 

      Rickman, KA; Noonan, RJ; Lach, FP; Sridhar, S; Wang, AT; Abhyankar, A; Huang, A; Kelly, M; Auerbach, AD; Smogorzewska, A (2020-06)
      DNA interstrand cross-links (ICLs) are a form of DNA damage that requires the interplay of a number of repair proteins including those of the Fanconi anemia (FA) and the homologous recombination (HR) pathways. Pathogenic ...
    • Two truncating variants in FANCC and breast cancer risk. 

      Dörk, T; Peterlongo, P; Mannermaa, A; Bolla, MK; Wang, Q; Dennis, J; Ahearn, T; Andrulis, IL; Anton-Culver, H; Arndt, V; Aronson, KJ; Augustinsson, A; Freeman, LEB; Beckmann, MW; Beeghly-Fadiel, A; Behrens, S; Bermisheva, M; Blomqvist, C; Bogdanova, NV; Bojesen, SE; Brauch, H; Brenner, H; Burwinkel, B; Canzian, F; Chan, TL; Chang-Claude, J; Chanock, SJ; Choi, J-Y; Christiansen, H; Clarke, CL; Couch, FJ; Czene, K; Daly, MB; Dos-Santos-Silva, I; Dwek, M; Eccles, DM; Ekici, AB; Eriksson, M; Evans, DG; Fasching, PA; Figueroa, J; Flyger, H; Fritschi, L; Gabrielson, M; Gago-Dominguez, M; Gao, C; Gapstur, SM; García-Closas, M; García-Sáenz, JA; Gaudet, MM; Giles, GG; Goldberg, MS; Goldgar, DE; Guénel, P; Haeberle, L; Haiman, CA; Håkansson, N; Hall, P; Hamann, U; Hartman, M; Hauke, J; Hein, A; Hillemanns, P; Hogervorst, FBL; Hooning, MJ; Hopper, JL; Howell, T; Huo, D; Ito, H; Iwasaki, M; Jakubowska, A; Janni, W; John, EM; Jung, A; Kaaks, R; Kang, D; Kapoor, PM; Khusnutdinova, E; Kim, S-W; Kitahara, CM; Koutros, S; Kraft, P; Kristensen, VN; Kwong, A; Lambrechts, D; Marchand, LL; Li, J; Lindström, S; Linet, M; Lo, W-Y; Long, J; Lophatananon, A; Lubiński, J; Manoochehri, M; Manoukian, S; Margolin, S; Martinez, E; Matsuo, K; Mavroudis, D; Meindl, A; Menon, U; Milne, RL; Mohd Taib, NA; Muir, K; Mulligan, AM; Neuhausen, SL; Nevanlinna, H; Neven, P; Newman, WG; Offit, K; Olopade, OI; Olshan, AF; Olson, JE; Olsson, H; Park, SK; Park-Simon, T-W; Peto, J; Plaseska-Karanfilska, D; Pohl-Rescigno, E; Presneau, N; Rack, B; Radice, P; Rashid, MU; Rennert, G; Rennert, HS; Romero, A; Ruebner, M; Saloustros, E; Schmidt, MK; Schmutzler, RK; Schneider, MO; Schoemaker, MJ; Scott, C; Shen, C-Y; Shu, X-O; Simard, J; Slager, S; Smichkoska, S; Southey, MC; Spinelli, JJ; Stone, J; Surowy, H; Swerdlow, AJ; Tamimi, RM; Tapper, WJ; Teo, SH; Terry, MB; Toland, AE; Tollenaar, RAEM; Torres, D; Torres-Mejía, G; Troester, MA; Truong, T; Tsugane, S; Untch, M; Vachon, CM; Ouweland, AMWVD; Veen, EMV; Vijai, J; Wendt, C; Wolk, A; Yu, J-C; Zheng, W; Ziogas, A; Ziv, E; ABCTB Investigators; NBCS Collaborators; Dunning, AM; Pharoah, PDP; Schindler, D; Devilee, P; Easton, DF (2019-08-29)
      Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk ...