BRCA1 c.3168C>T ;(p.S1056=)

Variant ID: 17-41244380-G-A

NM_007294.3(BRCA1):c.3168C>T;(p.S1056=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology
Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X
Publication Date: 2021-03-10

Variant appearance in text: BRCA1: S1056S
PubMed Link: 33691754
Variant Present in the following documents:
  • 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population.

Human Genomics
Cardoso, Florencia C FC; Goncalves, Susana S; Mele, Pablo G PG; Liria, Natalia C NC; Sganga, Leonardo L; Diaz Perez, Ignacio I; Podesta, Ernesto J EJ; Solano, Angela R AR
Publication Date: 2018-08-13

Variant appearance in text: BRCA1: 3168C>T; Ser1056=
PubMed Link: 30103829
Variant Present in the following documents:
  • Main text
  • 40246_2018_Article_171.pdf
View BVdb publication page



Novel insulin receptor substrate 1 and 2 variants in breast and colorectal cancer.

Oncology Reports
Esposito, Diana Liberata DL; Verginelli, Fabio F; Toracchio, Sonia S; Mammarella, Sandra S; De Lellis, Laura L; Vanni, Cinzia C; Russo, Antonio A; Mariani-Costantini, Renato R; Cama, Alessandro A
Publication Date: 2013-10

Variant appearance in text: BRCA1: 3168C>T
PubMed Link: 23877285
Variant Present in the following documents:
  • Main text
  • or-30-04-1553.pdf
View BVdb publication page