BRCA1 c.5512dup ;(p.V1838Gfs*42)

Variant ID: 17-41197774-A-AC

NM_007294.3(BRCA1):c.5512dup;(p.V1838Gfs*42)

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: 5512dup; Val1838Glyfs*42
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s010.xlsx, sheet 5
  • IJC-152-1159-s006.xlsx, sheet 2
View BVdb publication page



Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer.

Journal Of Global Oncology
Abulkhair, Omalkhair O; Al Balwi, Mohammed M; Makram, Ola O; Alsubaie, Lamia L; Faris, Medhat M; Shehata, Hussam H; Hashim, Ahmed A; Arun, Banu B; Saadeddin, Ahmed A; Ibrahim, Ezzeldin E
Publication Date: 2018-08

Variant appearance in text: BRCA1: 5512dupG; Val1838Glyfs*42
PubMed Link: 30199306
Variant Present in the following documents:
  • Main text
  • JGO.18.00066.pdf
View BVdb publication page