BRCA1 c.4756G>T ;(p.E1586*)

Variant ID: 17-41223175-C-A

NM_007294.3(BRCA1):c.4756G>T;(p.E1586*)

This variant was identified in 5 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: BRCA1: 4756G>T; Glu1586*
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s010.xlsx, sheet 4
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s010.xlsx, sheet 1
  • IJC-152-1159-s011.xlsx, sheet 1
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s009.xlsx, sheet 1
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Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.

Genome Medicine
Billaud, Amandine A; Chevalier, Louise-Marie LM; Augereau, Paule P; Frenel, Jean-Sebastien JS; Passot, Christophe C; Campone, Mario M; Morel, Alain A
Publication Date: 2021-11-09

Variant appearance in text: BRCA1: 4756G>T; Glu1586X
PubMed Link: 34749799
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detection of BRCA1/2 Mutation and Analysis of Clinicopathological Characteristics in 141 Cases of Ovarian Cancer.

Computational And Mathematical Methods In Medicine
Li, Ling L; Chen, Fangfang F; Lin, An A; Wang, Di D; Shi, Yi Y; Chen, Gang G
Publication Date: 2021

Variant appearance in text: BRCA1: 4756G>T; Glu1586Ter
PubMed Link: 34721658
Variant Present in the following documents:
  • Main text
  • CMMM2021-4854282.pdf
View BVdb publication page



Genomic Profiling Comparison of Germline BRCA and Non-BRCA Carriers Reveals CCNE1 Amplification as a Risk Factor for Non-BRCA Carriers in Patients With Triple-Negative Breast Cancer.

Frontiers In Oncology
Huang, Xin X; Shao, Di D; Wu, Huanwen H; Zhu, Changbin C; Guo, Dan D; Zhou, Yidong Y; Chen, Chang C; Lin, Yan Y; Lu, Tao T; Zhao, Bin B; Wang, Changjun C; Sun, Qiang Q
Publication Date: 2020

Variant appearance in text: BRCA1: 4756G>T
PubMed Link: 33194720
Variant Present in the following documents:
  • Main text
  • fonc-10-583314.pdf
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: BRCA1: 4756G>T; Glu1586X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page