BRCA2 c.3559G>T ;(p.E1187*)

Variant ID: 13-32912051-G-T

NM_000059.3(BRCA2):c.3559G>T;(p.E1187*)

This variant was identified in 3 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: 3559G>T; Glu1187*
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: 3559G>T; Glu1187X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Liang, Yi Y; Yang, Xuexi X; Li, Hong H; Zhu, Anna A; Guo, Zhiwei Z; Li, Ming M
Publication Date: 2018-04-23

Variant appearance in text: BRCA2: 3559G>T; Glu1187Ter
PubMed Link: 29681614
Variant Present in the following documents:
  • Main text
  • medscimonit-24-2465.pdf
View BVdb publication page