BRCA2 c.3125T>A ;(p.L1042*)

Variant ID: 13-32911617-T-A

NM_000059.3(BRCA2):c.3125T>A;(p.L1042*)

This variant was identified in 2 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: BRCA2: 3125T>A; Leu1042X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Breast Cancer Research : Bcr
Spurdle, Amanda B AB; Antoniou, Antonis C AC; Duffy, David L DL; Pandeya, Nirmala N; Kelemen, Livia L; Chen, Xiaoqing X; Peock, Susan S; Cook, Margaret R MR; Smith, Paula L PL; Purdie, David M DM; Newman, Beth B; Dite, Gillian S GS; Apicella, Carmel C; Southey, Melissa C MC; Giles, Graham G GG; Hopper, John L JL; Chenevix-Trench, Georgia G; Easton, Douglas F DF; ,
Publication Date: 2005

Variant appearance in text: BRCA2: L1042X
PubMed Link: 15743497
Variant Present in the following documents:
  • Main text
  • bcr971.pdf
View BVdb publication page