BRCA2 c.4777G>T ;(p.E1593*)

Variant ID: 13-32913269-G-T

NM_000059.3(BRCA2):c.4777G>T;(p.E1593*)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Molecular Characterization of BRCA1 c.5339T>C Missense Mutation in DNA Damage Response of Triple-Negative Breast Cancer.

Cancers
Lee, Jeong Dong JD; Ryu, Won-Ji WJ; Han, Hyun Ju HJ; Kim, Tae Yeong TY; Kim, Min Hwan MH; Sohn, Joohyuk J
Publication Date: 2022-05-13

Variant appearance in text: BRCA2: 4777G>T
PubMed Link: 35626017
Variant Present in the following documents:
  • Main text
  • cancers-14-02405.pdf
View BVdb publication page



Therapeutic vulnerability to PARP1,2 inhibition in RB1-mutant osteosarcoma.

Nature Communications
Zoumpoulidou, Georgia G; Alvarez-Mendoza, Carlos C; Mancusi, Caterina C; Ahmed, Ritika-Mahmuda RM; Denman, Milly M; Steele, Christopher D CD; Tarabichi, Maxime M; Roy, Errin E; Davies, Lauren R LR; Manji, Jiten J; Cristalli, Camilla C; Scotlandi, Katia K; Pillay, Nischalan N; Strauss, Sandra J SJ; Mittnacht, Sibylle S
Publication Date: 2021-12-03

Variant appearance in text: BRCA2: E1593*
PubMed Link: 34862364
Variant Present in the following documents:
  • Main text
View BVdb publication page



Therapeutic vulnerability to PARP1,2 inhibition in RB1-mutant osteosarcoma.

Nature Communications
Zoumpoulidou, Georgia G; Alvarez-Mendoza, Carlos C; Mancusi, Caterina C; Ahmed, Ritika-Mahmuda RM; Denman, Milly M; Steele, Christopher D CD; Tarabichi, Maxime M; Roy, Errin E; Davies, Lauren R LR; Manji, Jiten J; Cristalli, Camilla C; Scotlandi, Katia K; Pillay, Nischalan N; Strauss, Sandra J SJ; Mittnacht, Sibylle S
Publication Date: 2021-12-03

Variant appearance in text: BRCA2: E1593*
PubMed Link: 34862364
Variant Present in the following documents:
  • Main text
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: BRCA2: 4777G>T; E1593*
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA2: 4777G>T; Glu1593X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Molecular characterization of breast cancer cell lines through multiple omic approaches.

Breast Cancer Research : Bcr
Smith, Shari E SE; Mellor, Paul P; Ward, Alison K AK; Kendall, Stephanie S; McDonald, Megan M; Vizeacoumar, Frederick S FS; Vizeacoumar, Franco J FJ; Napper, Scott S; Anderson, Deborah H DH
Publication Date: 2017-06-05

Variant appearance in text: BRCA2: E1593*
PubMed Link: 28583138
Variant Present in the following documents:
  • 13058_2017_855_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: BRCA2: 4777G>T; E1593*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



FANCD2 limits replication stress and genome instability in cells lacking BRCA2.

Nature Structural & Molecular Biology
Michl, Johanna J; Zimmer, Jutta J; Buffa, Francesca M FM; McDermott, Ultan U; Tarsounas, Madalena M
Publication Date: 2016-08

Variant appearance in text: BRCA2: E1593*
PubMed Link: 27322732
Variant Present in the following documents:
  • NIHMS69022-supplement-Supplementary_Tables.pdf
View BVdb publication page



Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.

Plos One
Olsson, Eleonor E; Winter, Christof C; George, Anthony A; Chen, Yilun Y; Törngren, Therese T; Bendahl, Pär-Ola PO; Borg, Åke Å; Gruvberger-Saal, Sofia K SK; Saal, Lao H LH
Publication Date: 2015

Variant appearance in text: BRCA2: E1593X
PubMed Link: 26670335
Variant Present in the following documents:
  • pone.0144528.s005.xlsx, sheet 1
View BVdb publication page



Genome Modeling System: A Knowledge Management Platform for Genomics.

Plos Computational Biology
Griffith, Malachi M; Griffith, Obi L OL; Smith, Scott M SM; Ramu, Avinash A; Callaway, Matthew B MB; Brummett, Anthony M AM; Kiwala, Michael J MJ; Coffman, Adam C AC; Regier, Allison A AA; Oberkfell, Ben J BJ; Sanderson, Gabriel E GE; Mooney, Thomas P TP; Nutter, Nathaniel G NG; Belter, Edward A EA; Du, Feiyu F; Long, Robert L RL; Abbott, Travis E TE; Ferguson, Ian T IT; Morton, David L DL; Burnett, Mark M MM; Weible, James V JV; Peck, Joshua B JB; Dukes, Adam A; McMichael, Joshua F JF; Lolofie, Justin T JT; Derickson, Brian R BR; Hundal, Jasreet J; Skidmore, Zachary L ZL; Ainscough, Benjamin J BJ; Dees, Nathan D ND; Schierding, William S WS; Kandoth, Cyriac C; Kim, Kyung H KH; Lu, Charles C; Harris, Christopher C CC; Maher, Nicole N; Maher, Christopher A CA; Magrini, Vincent J VJ; Abbott, Benjamin S BS; Chen, Ken K; Clark, Eric E; Das, Indraniel I; Fan, Xian X; Hawkins, Amy E AE; Hepler, Todd G TG; Wylie, Todd N TN; Leonard, Shawn M SM; Schroeder, William E WE; Shi, Xiaoqi X; Carmichael, Lynn K LK; Weil, Matthew R MR; Wohlstadter, Richard W RW; Stiehr, Gary G; McLellan, Michael D MD; Pohl, Craig S CS; Miller, Christopher A CA; Koboldt, Daniel C DC; Walker, Jason R JR; Eldred, James M JM; Larson, David E DE; Dooling, David J DJ; Ding, Li L; Mardis, Elaine R ER; Wilson, Richard K RK
Publication Date: 2015-07

Variant appearance in text: BRCA2: E1593*
PubMed Link: 26158448
Variant Present in the following documents:
  • pcbi.1004274.s006.pdf
  • pcbi.1004274.s019.pdf
View BVdb publication page



Patterns of genomic loss of heterozygosity predict homologous recombination repair defects in epithelial ovarian cancer.

British Journal Of Cancer
Abkevich, V V; Timms, K M KM; Hennessy, B T BT; Potter, J J; Carey, M S MS; Meyer, L A LA; Smith-McCune, K K; Broaddus, R R; Lu, K H KH; Chen, J J; Tran, T V TV; Williams, D D; Iliev, D D; Jammulapati, S S; FitzGerald, L M LM; Krivak, T T; DeLoia, J A JA; Gutin, A A; Mills, G B GB; Lanchbury, J S JS
Publication Date: 2012-11-06

Variant appearance in text: BRCA2: E1593X
PubMed Link: 23047548
Variant Present in the following documents:
View BVdb publication page