BRCA2 c.8399C>G ;(p.P2800R)

Variant ID: 13-32944606-C-G

NM_000059.3(BRCA2):c.8399C>G;(p.P2800R)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: BRCA2: P2800R
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 3
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: P2800R
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2022-06-03

Variant appearance in text: BRCA2: P2800R
PubMed Link: 35665744
Variant Present in the following documents:
  • 41525_2022_302_MOESM3_ESM.xlsx, sheet 1
  • 41525_2022_302_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: BRCA2: P2800R
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
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: P2800R
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: BRCA2: P2800R
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 12
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: P2800R
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: 8399C>G; Pro2800Arg
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: 8399C>G; P2800R
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC
Publication Date: 2020-05

Variant appearance in text: BRCA2: 8399C>G; P2800R; rs80359087
PubMed Link: 31911673
Variant Present in the following documents:
  • 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
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: P2800R
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.

American Journal Of Human Genetics
Guidugli, Lucia L; Shimelis, Hermela H; Masica, David L DL; Pankratz, Vernon S VS; Lipton, Gary B GB; Singh, Namit N; Hu, Chunling C; Monteiro, Alvaro N A ANA; Lindor, Noralane M NM; Goldgar, David E DE; Karchin, Rachel R; Iversen, Edwin S ES; Couch, Fergus J FJ
Publication Date: 2018-02-01

Variant appearance in text: BRCA2: 8399C>G; Pro2800Arg
PubMed Link: 29394989
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: BRCA2: P2800R; rs80359087
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: BRCA2: P2800R; rs80359087
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_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: 8399C>G; P2800R
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2014-10-28

Variant appearance in text: BRCA2: P2800R
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: BRCA2: P2800R
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Functional assays for analysis of variants of uncertain significance in BRCA2.

Human Mutation
Guidugli, Lucia L; Carreira, Aura A; Caputo, Sandrine M SM; Ehlen, Asa A; Galli, Alvaro A; Monteiro, Alvaro N A AN; Neuhausen, Susan L SL; Hansen, Thomas V O TV; Couch, Fergus J FJ; Vreeswijk, Maaike P G MP; ,
Publication Date: 2014-02

Variant appearance in text: BRCA2: Pro2800Arg
PubMed Link: 24323938
Variant Present in the following documents:
  • Main text
View BVdb publication page



A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.

Cancer Research
Guidugli, Lucia L; Pankratz, Vernon S VS; Singh, Namit N; Thompson, James J; Erding, Catherine A CA; Engel, Christoph C; Schmutzler, Rita R; Domchek, Susan S; Nathanson, Katherine K; Radice, Paolo P; Singer, Christian C; Tonin, Patricia N PN; Lindor, Noralane M NM; Goldgar, David E DE; Couch, Fergus J FJ
Publication Date: 2013-01-01

Variant appearance in text: BRCA2: P2800R
PubMed Link: 23108138
Variant Present in the following documents:
  • Main text
View BVdb publication page



Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

Cancer Informatics
Karchin, Rachel R; Agarwal, Mukesh M; Sali, Andrej A; Couch, Fergus F; Beattie, Mary S MS
Publication Date: 2008

Variant appearance in text: BRCA2: P2800R
PubMed Link: 19043619
Variant Present in the following documents:
  • cin-6-0203-s1.pdf
View BVdb publication page