BRCA1 c.865_866del ;(p.S289Ffs*5)

Variant ID: 17-41246682-ACT-A

NM_007294.3(BRCA1):c.865_866del;(p.S289Ffs*5)

This variant was identified in 2 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: 865_866del; Ser289Phefs*5
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s002.xlsx, sheet 1
View BVdb publication page



Using next-generation sequencing to redefine BRCAness in triple-negative breast cancer.

Cancer Science
Lin, Po-Han PH; Chen, Ming M; Tsai, Li-Wei LW; Lo, Chiao C; Yen, Tzu-Chun TC; Huang, Thomas Yoyan TY; Chen, Chih-Kai CK; Fan, Sheng-Chih SC; Kuo, Sung-Hsin SH; Huang, Chiun-Sheng CS
Publication Date: 2020-04

Variant appearance in text: BRCA1: 865_866del; S289fs
PubMed Link: 31958182
Variant Present in the following documents:
  • Main text
  • CAS-111-1375.pdf
View BVdb publication page