BARD1 c.1304C>T ;(p.A435V)

Variant ID: 2-215645294-G-A

NM_000465.2(BARD1):c.1304C>T;(p.A435V)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: BARD1: 1304C>T; Ala435Val
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: BARD1: 1304C>T; A435V
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: BARD1: 1304C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity.

Plos Genetics
Adamovich, Aleksandra I AI; Banerjee, Tapahsama T; Wingo, Margaret M; Duncan, Kathryn K; Ning, Jie J; Martins Rodrigues, Fernanda F; Huang, Kuan-Lin KL; Lee, Cindy C; Chen, Feng F; Ding, Li L; Parvin, Jeffrey D JD
Publication Date: 2019-03

Variant appearance in text: BARD1: A435V
PubMed Link: 30925164
Variant Present in the following documents:
  • pgen.1008049.s001.xlsx, sheet 1
View BVdb publication page



H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids.

Nature Cell Biology
Nakamura, Kyosuke K; Saredi, Giulia G; Becker, Jordan R JR; Foster, Benjamin M BM; Nguyen, Nhuong V NV; Beyer, Tracey E TE; Cesa, Laura C LC; Faull, Peter A PA; Lukauskas, Saulius S; Frimurer, Thomas T; Chapman, J Ross JR; Bartke, Till T; Groth, Anja A
Publication Date: 2019-03

Variant appearance in text: BARD1: A435V
PubMed Link: 30804502
Variant Present in the following documents:
  • Main text
  • emss-81307.pdf
View BVdb publication page



Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma.

Nature Communications
Snuderl, Matija M; Kannan, Kasthuri K; Pfaff, Elke E; Wang, Shiyang S; Stafford, James M JM; Serrano, Jonathan J; Heguy, Adriana A; Ray, Karina K; Faustin, Arline A; Aminova, Olga O; Dolgalev, Igor I; Stapleton, Stacie L SL; Zagzag, David D; Chiriboga, Luis L; Gardner, Sharon L SL; Wisoff, Jeffrey H JH; Golfinos, John G JG; Capper, David D; Hovestadt, Volker V; Rosenblum, Marc K MK; Placantonakis, Dimitris G DG; LeBoeuf, Sarah E SE; Papagiannakopoulos, Thales Y TY; Chavez, Lukas L; Ahsan, Sama S; Eberhart, Charles G CG; Pfister, Stefan M SM; Jones, David T W DTW; Karajannis, Matthias A MA
Publication Date: 2018-07-20

Variant appearance in text: BARD1: A435V
PubMed Link: 30030436
Variant Present in the following documents:
  • 41467_2018_5029_MOESM1_ESM.pdf
View BVdb publication page



Dualistic Role of BARD1 in Cancer.

Genes
Cimmino, Flora F; Formicola, Daniela D; Capasso, Mario M
Publication Date: 2017-12-08

Variant appearance in text: BARD1: A435V
PubMed Link: 29292755
Variant Present in the following documents:
  • Main text
  • genes-08-00375.pdf
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: BARD1: 1304C>T; A435V
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: BARD1: 1304C>T; A435V
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page