BRCA1 c.4527C>G ;(p.Y1509*)

Variant ID: 17-41226496-G-C

NM_007294.3(BRCA1):c.4527C>G;(p.Y1509*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Neoadjuvant therapy of BRCA1-driven ovarian cancer by combination of cisplatin, mitomycin C and doxorubicin.

Hereditary Cancer In Clinical Practice
Gorodnova, Tatiana V TV; Sokolenko, Anna P AP; Kotiv, Khristina B KB; Sokolova, Tatiana N TN; Ivantsov, Alexandr O AO; Guseynov, Konstantin D KD; Nekrasova, Ekaterina A EA; Smirnova, Olga A OA; Berlev, Igor V IV; Imyanitov, Evgeny N EN
Publication Date: 2021-02-03

Variant appearance in text: BRCA1: Y1509X
PubMed Link: 33536037
Variant Present in the following documents:
  • Main text
  • 13053_2021_Article_173.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: BRCA1: 4527C>G; Tyr1509X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients.

Scientific Reports
George, Angela A; Riddell, Daniel D; Seal, Sheila S; Talukdar, Sabrina S; Mahamdallie, Shazia S; Ruark, Elise E; Cloke, Victoria V; Slade, Ingrid I; Kemp, Zoe Z; Gore, Martin M; Strydom, Ann A; Banerjee, Susana S; Hanson, Helen H; Rahman, Nazneen N
Publication Date: 2016-07-13

Variant appearance in text: BRCA1: 4527C>G; Tyr1509X
PubMed Link: 27406733
Variant Present in the following documents:
  • srep29506-s1.pdf
View BVdb publication page