BRCA1 c.2345del ;(p.S782Ifs*10)

Variant ID: 17-41245203-AC-A

NM_007294.3(BRCA1):c.2345del;(p.S782Ifs*10)

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: 2345del; Ser782Ilefs*10
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-s002.xlsx, sheet 1
  • IJC-152-1159-s011.xlsx, sheet 1
View BVdb publication page



Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea.

Bmc Medical Genetics
Kim, Do-Hoon DH; Chae, Hyojin H; Jo, Irene I; Yoo, Jaeeun J; Lee, Hyeyoung H; Jang, Woori W; Park, Joonhong J; Lee, Gun Dong GD; Jeon, Dong-Seok DS; Lee, Keun Ho KH; Hur, Soo Young SY; Chae, Byung Joo BJ; Song, Byung Joo BJ; Kim, Myungshin M; Kim, Yonggoo Y
Publication Date: 2017-03-28

Variant appearance in text: BRCA1: 2345delG
PubMed Link: 28351343
Variant Present in the following documents:
  • Main text
  • 12881_2017_Article_398.pdf
View BVdb publication page