BRCA2 c.3760G>T ;(p.E1254*)

Variant ID: 13-32912252-G-T

NM_000059.3(BRCA2):c.3760G>T;(p.E1254*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17

Variant appearance in text: BRCA2: 3760G>T; Glu1254*
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159-s006.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: 3760G>T; Glu1254X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels.

Oncotarget
Kwong, Ava A; Ho, John C W JCW; Shin, Vivian Y VY; Kurian, Allison W AW; Tai, Edmund E; Esserman, Laura J LJ; Weitzel, Jeffery N JN; Lin, Po-Han PH; Field, Michael M; Domchek, Susan M SM; Lo, Jessica J; Ngan, Hextan Y S HYS; Ma, Edmond S K ESK; Chan, Tsun L TL; Ford, James M JM
Publication Date: 2018-01-30

Variant appearance in text: BRCA2: 3760G>T
PubMed Link: 29487695
Variant Present in the following documents:
  • Main text
  • oncotarget-09-7832.pdf
View BVdb publication page