BRCA1 c.4386del ;(p.E1462Dfs*4)

Variant ID: 17-41228602-AT-A

NM_007294.3(BRCA1):c.4386del;(p.E1462Dfs*4)

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: BRCA1: 4386del; Glu1462Aspfs*4
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s006.xlsx, sheet 2
View BVdb publication page



Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.

Plos One
Ow, Samuel Guan Wei SGW; Ong, Pei Yi PY; Lee, Soo-Chin SC
Publication Date: 2019

Variant appearance in text: BRCA1: 4386del; E1462Dfs*4
PubMed Link: 30875412
Variant Present in the following documents:
View BVdb publication page



Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.

Oncotarget
Chan, Gloria H J GHJ; Ong, Pei Yi PY; Low, Jeffrey J H JJH; Kong, Hwai Loong HL; Ow, Samuel G W SGW; Tan, David S P DSP; Lim, Yi Wan YW; Lim, Siew Eng SE; Lee, Soo-Chin SC
Publication Date: 2018-07-17

Variant appearance in text: BRCA1: 4386del; Glu1462fs
PubMed Link: 30093976
Variant Present in the following documents:
  • Main text
  • oncotarget-09-30649.pdf
View BVdb publication page