BRCA2 c.2050C>T ;(p.Q684*)

Variant ID: 13-32910542-C-T

NM_000059.3(BRCA2):c.2050C>T;(p.Q684*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.

Bmc Urology
Yang, Yong Y; Zhang, Guoying G; Hu, Chen C; Luo, Wei W; Jiang, Haiyang H; Liu, Shaoyou S; Yang, Hong H
Publication Date: 2022-11-30

Variant appearance in text: BRCA2: Q684*
PubMed Link: 36451132
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: BRCA2: Gln684Ter
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Intra-Tumoral CD8+ T-Cell Infiltration and PD-L1 Positivity in Homologous Recombination Deficient Pancreatic Ductal Adenocarcinoma.

Frontiers In Oncology
Golesworthy, Bryn B; Wang, Yifan Y; Tanti, Amanda A; Pacis, Alain A; Romero, Joan Miguel JM; Cuggia, Adeline A; Domecq, Celine C; Bourdel, Guillaume G; Denroche, Robert E RE; Jang, Gun Ho GH; Grant, Robert C RC; Borgida, Ayelet A; Grünwald, Barbara T BT; Dodd, Anna A; Wilson, Julie M JM; Bourque, Guillaume G; O'Kane, Grainne M GM; Fischer, Sandra E SE; Kron, Chelsea Maedler CM; Fiset, Pierre-Olivier PO; Omeroglu, Atilla A; Foulkes, William D WD; Gallinger, Steven S; Guiot, Marie-Christine MC; Gao, Zu-Hua ZH; Zogopoulos, George G
Publication Date: 2022

Variant appearance in text: BRCA2: 2050C>T
PubMed Link: 35547873
Variant Present in the following documents:
  • Main text
  • fonc-12-860767.pdf
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: 2050C>T; Gln684X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page