BRCA2 c.841G>T ;(p.D281Y)

Variant ID: 13-32906456-G-T

NM_000059.3(BRCA2):c.841G>T;(p.D281Y)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: BRCA2: D281Y
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA2: D281Y
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: BRCA2: 841G>T; Asp281Tyr
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
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: D281Y
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Identification of candidate genes encoding tumor-specific neoantigens in early- and late-stage colon adenocarcinoma.

Aging
Wang, Chong C; Xue, Wenhua W; Zhang, Haohao H; Fu, Yang Y
Publication Date: 2021-01-10

Variant appearance in text: BRCA2: Asp281Tyr
PubMed Link: 33428592
Variant Present in the following documents:
  • aging-13-202370-s002.xlsx, sheet 1
  • aging-13-202370-s002.xlsx, sheet 2
View BVdb publication page



Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.

Bmc Cancer
Sun, Peng P; Li, Yue Y; Chao, Xue X; Li, Jibin J; Luo, Rongzhen R; Li, Mei M; He, Jiehua J
Publication Date: 2020-10-14

Variant appearance in text: BRCA2: D281Y
PubMed Link: 33054725
Variant Present in the following documents:
  • 12885_2020_7481_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Modeling the Diversity of Epithelial Ovarian Cancer through Ten Novel Well Characterized Cell Lines Covering Multiple Subtypes of the Disease.

Cancers
Sauriol, Alexandre A; Simeone, Kayla K; Portelance, Lise L; Meunier, Liliane L; Leclerc-Desaulniers, Kim K; de Ladurantaye, Manon M; Chergui, Meriem M; Kendall-Dupont, Jennifer J; Rahimi, Kurosh K; Carmona, Euridice E; Provencher, Diane M DM; Mes-Masson, Anne-Marie AM
Publication Date: 2020-08-08

Variant appearance in text: BRCA2: 841G>T; D281Y
PubMed Link: 32784519
Variant Present in the following documents:
  • Main text
  • cancers-12-02222.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: BRCA2: D281Y
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: 841G>T; Asp281Tyr
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: BRCA2: 841G>T; D281Y
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids.

Nature Communications
Alcala, N N; Leblay, N N; Gabriel, A A G AAG; Mangiante, L L; Hervas, D D; Giffon, T T; Sertier, A S AS; Ferrari, A A; Derks, J J; Ghantous, A A; Delhomme, T M TM; Chabrier, A A; Cuenin, C C; Abedi-Ardekani, B B; Boland, A A; Olaso, R R; Meyer, V V; Altmuller, J J; Le Calvez-Kelm, F F; Durand, G G; Voegele, C C; Boyault, S S; Moonen, L L; Lemaitre, N N; Lorimier, P P; Toffart, A C AC; Soltermann, A A; Clement, J H JH; Saenger, J J; Field, J K JK; Brevet, M M; Blanc-Fournier, C C; Galateau-Salle, F F; Le Stang, N N; Russell, P A PA; Wright, G G; Sozzi, G G; Pastorino, U U; Lacomme, S S; Vignaud, J M JM; Hofman, V V; Hofman, P P; Brustugun, O T OT; Lund-Iversen, M M; Thomas de Montpreville, V V; Muscarella, L A LA; Graziano, P P; Popper, H H; Stojsic, J J; Deleuze, J F JF; Herceg, Z Z; Viari, A A; Nuernberg, P P; Pelosi, G G; Dingemans, A M C AMC; Milione, M M; Roz, L L; Brcic, L L; Volante, M M; Papotti, M G MG; Caux, C C; Sandoval, J J; Hernandez-Vargas, H H; Brambilla, E E; Speel, E J M EJM; Girard, N N; Lantuejoul, S S; McKay, J D JD; Foll, M M; Fernandez-Cuesta, L L
Publication Date: 2019-08-20

Variant appearance in text: BRCA2: 841G>T
PubMed Link: 31431620
Variant Present in the following documents:
  • 41467_2019_11276_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2019-01

Variant appearance in text: BRCA2: D281Y
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



BRCA2, EGFR, and NTRK mutations in mismatch repair-deficient colorectal cancers with MSH2 or MLH1 mutations.

Oncotarget
Deihimi, Safoora S; Lev, Avital A; Slifker, Michael M; Shagisultanova, Elena E; Xu, Qifang Q; Jung, Kyungsuk K; Vijayvergia, Namrata N; Ross, Eric A EA; Xiu, Joanne J; Swensen, Jeffrey J; Gatalica, Zoran Z; Andrake, Mark M; Dunbrack, Roland L RL; El-Deiry, Wafik S WS
Publication Date: 2017-06-20

Variant appearance in text: BRCA2: 841G>T; D281Y
PubMed Link: 28591715
Variant Present in the following documents:
  • Main text
  • oncotarget-08-39945.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: BRCA2: 841G>T; D281Y
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page