BRCA2 c.4123G>T ;(p.E1375*)

Variant ID: 13-32912615-G-T

NM_000059.3(BRCA2):c.4123G>T;(p.E1375*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Predicting response to enzalutamide and abiraterone in metastatic prostate cancer using whole-omics machine learning.

Nature Communications
de Jong, Anouk C AC; Danyi, Alexandra A; van Riet, Job J; de Wit, Ronald R; Sjöström, Martin M; Feng, Felix F; de Ridder, Jeroen J; Lolkema, Martijn P MP
Publication Date: 2023-04-08

Variant appearance in text: BRCA2: E1375*
PubMed Link: 37031196
Variant Present in the following documents:
  • 41467_2023_37647_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: BRCA2: 4123G>T; Glu1375X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: BRCA2: Glu1375*
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



BRCA1/BRCA2 mutations in Japanese women with ductal carcinoma in situ.

Molecular Genetics & Genomic Medicine
Liu, Yan Y; Ide, Yoshimi Y; Inuzuka, Mayuko M; Tazawa, Sakiko S; Kanada, Yoko Y; Matsunaga, Yuki Y; Kuwayama, Takashi T; Sawada, Terumasa T; Akashi-Tanaka, Sadako S; Nakamura, Seigo S
Publication Date: 2019-03

Variant appearance in text: BRCA2: 4123G>T
PubMed Link: 30652428
Variant Present in the following documents:
  • Main text
  • MGG3-7-na.pdf
View BVdb publication page