BRCA2 c.57C>G ;(p.C19W)

Variant ID: 13-32890654-C-G

NM_000059.3(BRCA2):c.57C>G;(p.C19W)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA2: C19W
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Immune Checkpoint Inhibitors Plus Single-Agent Chemotherapy for Advanced Non-Small-Cell Lung Cancer After Resistance to EGFR-TKI.

Frontiers In Oncology
Deng, Haiyi H; Lin, Xinqing X; Xie, Xiaohong X; Yang, Yilin Y; Wang, Liqiang L; Wu, Jianhui J; Liu, Ming M; Xie, Zhanhong Z; Qin, Yinyin Y; Zhou, Chengzhi C
Publication Date: 2021

Variant appearance in text: BRCA2: Cys19Trp
PubMed Link: 34616674
Variant Present in the following documents:
  • DataSheet_1.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: 57C>G; Cys19Trp
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.

Cells
Hartman, Mariusz L ML; Sztiller-Sikorska, Malgorzata M; Gajos-Michniewicz, Anna A; Czyz, Malgorzata M
Publication Date: 2020-01-07

Variant appearance in text: BRCA2: C19W
PubMed Link: 31936151
Variant Present in the following documents:
  • cells-09-00142-s001.pdf
View BVdb publication page



Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Publication Date: 2019-01

Variant appearance in text: BRCA2: C19W
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page