BRCA1 c.745del ;(p.T249Lfs*49)

Variant ID: 17-41246803-GT-G

NM_007294.3(BRCA1):c.745del;(p.T249Lfs*49)

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: 745del; Thr249Leufs*49
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



Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.

Npj Genomic Medicine
Wong, Edward S Y ESY; Shekar, Sandhya S; Met-Domestici, Marie M; Chan, Claire C; Sze, Melody M; Yap, Yoon Sim YS; Rozen, Steven G SG; Tan, Min-Han MH; Ang, Peter P; Ngeow, Joanne J; Lee, Ann S G ASG
Publication Date: 2016

Variant appearance in text: BRCA1: 745delA; T249Lfs*49
PubMed Link: 29263802
Variant Present in the following documents:
  • Main text
  • npjgenmed20153.pdf
View BVdb publication page



Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population.

Plos One
Wong, Edward S Y ES; Shekar, Sandhya S; Chan, Claire H T CH; Hong, Lewis Z LZ; Poon, Suk-Yean SY; Silla, Toomas T; Lin, Clarabelle C; Kumar, Vikrant V; Davila, Sonia S; Voorhoeve, Mathijs M; Thike, Aye Aye AA; Ho, Gay Hui GH; Yap, Yoon Sim YS; Tan, Puay Hoon PH; Tan, Min-Han MH; Ang, Peter P; Lee, Ann S G AS
Publication Date: 2015

Variant appearance in text: BRCA1: 745delA; T249Lfs*49
PubMed Link: 26221963
Variant Present in the following documents:
  • pone.0134408.s003.xlsx, sheet 1
View BVdb publication page