An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Npj Genomic Medicine
Iversen, Edwin S ES; Lipton, Gary G; Hart, Steven N SN; Lee, Kun Y KY; Hu, Chunling C; Polley, Eric C EC; Pesaran, Tina T; Yussuf, Amal A; LaDuca, Holly H; Chao, Elizabeth E; Karam, Rachid R; Goldgar, David E DE; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA
BRCA1-BARD1 regulates transcription through modulating topoisomerase IIβ.
Open Biology
Bunch, Heeyoun H; Jeong, Jaehyeon J; Kang, Keunsoo K; Jo, Doo Sin DS; Cong, Anh T Q ATQ; Kim, Deukyeong D; Kim, Donguk D; Cho, Dong-Hyung DH; Lee, You Mie YM; Chen, Benjamin P C BPC; Schellenberg, Matthew J MJ; Calderwood, Stuart K SK
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Mutation of the BRCA1 SQ-cluster results in aberrant mitosis, reduced homologous recombination, and a compensatory increase in non-homologous end joining.
Oncotarget
Beckta, Jason M JM; Dever, Seth M SM; Gnawali, Nisha N; Khalil, Ashraf A; Sule, Amrita A; Golding, Sarah E SE; Rosenberg, Elizabeth E; Narayanan, Aarthi A; Kehn-Hall, Kylene K; Xu, Bo B; Povirk, Lawrence F LF; Valerie, Kristoffer K
Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.
Plos One
Carvalho, Renato S RS; Abreu, Renata B V RB; Velkova, Aneliya A; Marsillac, Sylvia S; Rodarte, Renato S RS; Suarez-Kurtz, Guilherme G; Iversen, Edwin S ES; Monteiro, Alvaro N A AN; Carvalho, Marcelo A MA
BAF complexes facilitate decatenation of DNA by topoisomerase IIα.
Nature
Dykhuizen, Emily C EC; Hargreaves, Diana C DC; Miller, Erik L EL; Cui, Kairong K; Korshunov, Andrey A; Kool, Marcel M; Pfister, Stefan S; Cho, Yoon-Jae YJ; Zhao, Keji K; Crabtree, Gerald R GR
Deregulation of BRCA1 leads to impaired spatiotemporal dynamics of γ-H2AX and DNA damage responses in Huntington's disease.
Molecular Neurobiology
Jeon, Gye Sun GS; Kim, Ki Yoon KY; Hwang, Yu Jin YJ; Jung, Min-Kyung MK; An, Sungkwan S; Ouchi, Mutsuko M; Ouchi, Toru T; Kowall, Neil N; Lee, Junghee J; Ryu, Hoon H