BRCA1 c.4675G>T ;(p.E1559*)

Variant ID: 17-41226348-C-A

NM_007294.3(BRCA1):c.4675G>T;(p.E1559*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA1: 4675G>T; Glu1559X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



BRCA1 Mutation-Specific Responses to 53BP1 Loss-Induced Homologous Recombination and PARP Inhibitor Resistance.

Cell Reports
Nacson, Joseph J; Krais, John J JJ; Bernhardy, Andrea J AJ; Clausen, Emma E; Feng, Wanjuan W; Wang, Yifan Y; Nicolas, Emmanuelle E; Cai, Kathy Q KQ; Tricarico, Rossella R; Hua, Xiang X; DiMarcantonio, Daniela D; Martinez, Esteban E; Zong, Dali D; Handorf, Elizabeth A EA; Bellacosa, Alfonso A; Testa, Joseph R JR; Nussenzweig, Andre A; Gupta, Gaorav P GP; Sykes, Stephen M SM; Johnson, Neil N
Publication Date: 2018-09-25

Variant appearance in text: BRCA1: 4675G>T
PubMed Link: 30257212
Variant Present in the following documents:
  • Main text
View BVdb publication page



Performance of BRCA1/2 mutation prediction models in Asian Americans.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Kurian, Allison W AW; Gong, Gail D GD; Chun, Nicolette M NM; Mills, Meredith A MA; Staton, Ashley D AD; Kingham, Kerry E KE; Crawford, Beth B BB; Lee, Robin R; Chan, Salina S; Donlon, Susan S SS; Ridge, Yolanda Y; Panabaker, Karen K; West, Dee W DW; Whittemore, Alice S AS; Ford, James M JM
Publication Date: 2008-10-10

Variant appearance in text: BRCA1: E1559X
PubMed Link: 18779604
Variant Present in the following documents:
  • Main text
View BVdb publication page