BRCA1 c.5211A>G ;(p.R1737=)

Variant ID: 17-41209135-T-C

NM_007294.3(BRCA1):c.5211A>G;(p.R1737=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: BRCA1: 5211A>G; Arg1737=; rs1555576963
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough.

Frontiers In Pharmacology
Abreu, Renata B V RBV; Gomes, Thiago T TT; Nepomuceno, Thales C TC; Li, Xueli X; Fuchshuber-Moraes, Mateus M; De Gregoriis, Giuliana G; Suarez-Kurtz, Guilherme G; Monteiro, Alvaro N A ANA; Carvalho, Marcelo A MA
Publication Date: 2022

Variant appearance in text: BRCA1: R1737R
PubMed Link: 35837282
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R1737R
PubMed Link: 33691754
Variant Present in the following documents:
  • 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Accurate classification of BRCA1 variants with saturation genome editing.

Nature
Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
Publication Date: 2018-10

Variant appearance in text: BRCA1: 5211A>G; R1737=
PubMed Link: 30209399
Variant Present in the following documents:
  • NIHMS1501643-supplement-2.xlsx, sheet 1
View BVdb publication page



BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile.

Oncotarget
Alvarez, Carolina C; Tapia, Teresa T; Perez-Moreno, Elisa E; Gajardo-Meneses, Patricia P; Ruiz, Catalina C; Rios, Mabel M; Missarelli, Claudio C; Silva, Mariela M; Cruz, Adolfo A; Matamala, Luis L; Carvajal-Carmona, Luis L; Camus, Mauricio M; Carvallo, Pilar P
Publication Date: 2017-09-26

Variant appearance in text: BRCA1: 5211A>G; Arg1737=
PubMed Link: 29088781
Variant Present in the following documents:
  • Main text
  • oncotarget-08-74233.pdf
View BVdb publication page