BRCA1 c.5013_5071del ;(p.K1671Nfs*4)

Variant ID: 17-41219628-GTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGT-G

NM_007294.3(BRCA1):c.5013_5071del;(p.K1671Nfs*4)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One
Rao, Nandana D ND; Shirts, Brian H BH
Publication Date: 2023

Variant appearance in text: BRCA1: 4676_5074del
PubMed Link: 36753473
Variant Present in the following documents:
  • pone.0278010.s002.xlsx, sheet 1
View BVdb publication page



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: 4676_5074del
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



The role of BRCA status on prognosis in patients with triple-negative breast cancer.

Oncotarget
Xie, Yuxin Y; Gou, Qiheng Q; Wang, Qianqian Q; Zhong, Xiaorong X; Zheng, Hong H
Publication Date: 2017-10-20

Variant appearance in text: BRCA1: 4676_5074del
PubMed Link: 29152070
Variant Present in the following documents:
  • oncotarget-08-87151-s001.pdf
View BVdb publication page



BRCA1 Alternative splicing landscape in breast tissue samples.

Bmc Cancer
Romero, Atocha A; García-García, Francisco F; López-Perolio, Irene I; Ruiz de Garibay, Gorka G; García-Sáenz, José A JA; Garre, Pilar P; Ayllón, Patricia P; Benito, Esperanza E; Dopazo, Joaquín J; Díaz-Rubio, Eduardo E; Caldés, Trinidad T; de la Hoya, Miguel M
Publication Date: 2015-04-03

Variant appearance in text: BRCA1: 4987_5074del
PubMed Link: 25884417
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1145.pdf
View BVdb publication page