BRCA2 c.3376G>A ;(p.E1126K)

Variant ID: 13-32911868-G-A

NM_000059.3(BRCA2):c.3376G>A;(p.E1126K)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


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: E1126K
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
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: E1126K
PubMed Link: 33054725
Variant Present in the following documents:
  • 12885_2020_7481_MOESM3_ESM.xlsx, sheet 1
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: E1126K
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: 3376G>A; Glu1126Lys
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: 3376G>A; E1126K
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic analysis of subsequent second primary malignant neoplasms in long-term pancreatic cancer survivors suggests new potential hereditary genetic alterations.

Cancer Management And Research
Lovecek, Martin M; Janatova, Marketa M; Skalicky, Pavel P; Zemanek, Tomas T; Havlik, Roman R; Ehrmann, Jiri J; Strouhal, Ondrej O; Zemankova, Petra P; Lhotova, Klara K; Borecka, Marianna M; Soukupova, Jana J; Svebisova, Hana H; Soucek, Pavel P; Hlavac, Viktor V; Kleibl, Zdenek Z; Neoral, Cestmir C; Melichar, Bohuslav B; Mohelnikova-Duchonova, Beatrice B
Publication Date: 2019

Variant appearance in text: BRCA2: 3376G>A
PubMed Link: 30666157
Variant Present in the following documents:
  • Main text
  • cmar-11-599.pdf
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: E1126K
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
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: Glu1126Lys
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles.

Cell Reports
Farshidfar, Farshad F; Zheng, Siyuan S; Gingras, Marie-Claude MC; Newton, Yulia Y; Shih, Juliann J; Robertson, A Gordon AG; Hinoue, Toshinori T; Hoadley, Katherine A KA; Gibb, Ewan A EA; Roszik, Jason J; Covington, Kyle R KR; Wu, Chia-Chin CC; Shinbrot, Eve E; Stransky, Nicolas N; Hegde, Apurva A; Yang, Ju Dong JD; Reznik, Ed E; Sadeghi, Sara S; Pedamallu, Chandra Sekhar CS; Ojesina, Akinyemi I AI; Hess, Julian M JM; Auman, J Todd JT; Rhie, Suhn K SK; Bowlby, Reanne R; Borad, Mitesh J MJ; , ; Zhu, Andrew X AX; Stuart, Josh M JM; Sander, Chris C; Akbani, Rehan R; Cherniack, Andrew D AD; Deshpande, Vikram V; Mounajjed, Taofic T; Foo, Wai Chin WC; Torbenson, Michael S MS; Kleiner, David E DE; Laird, Peter W PW; Wheeler, David A DA; McRee, Autumn J AJ; Bathe, Oliver F OF; Andersen, Jesper B JB; Bardeesy, Nabeel N; Roberts, Lewis R LR; Kwong, Lawrence N LN
Publication Date: 2017-03-14

Variant appearance in text: BRCA2: E1126K
PubMed Link: 28297679
Variant Present in the following documents:
  • NIHMS866722-supplement-2.xlsx, sheet 2
View BVdb publication page