BRCA1 c.915T>A ;(p.C305*)

Variant ID: 17-41246633-A-T

NM_007294.3(BRCA1):c.915T>A;(p.C305*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers.

Frontiers In Oncology
Hamdi, Yosr Y; Mighri, Najah N; Boujemaa, Maroua M; Mejri, Nesrine N; Ben Nasr, Sonia S; Ben Rekaya, Mariem M; Messaoud, Olfa O; Bouaziz, Hanen H; Berrazega, Yosra Y; Rachdi, Haifa H; Jaidane, Olfa O; Daoud, Nouha N; Zribi, Aref A; Ayari, Jihene J; El Benna, Houda H; Labidi, Soumaya S; Ben Hassouna, Jamel J; Haddaoui, Abderazzek A; Rahal, Khaled K; Benna, Farouk F; Mrad, Ridha R; Ben Ahmed, Slim S; Boussen, Hamouda H; Boubaker, Samir S; Abdelhak, Sonia S
Publication Date: 2021

Variant appearance in text: BRCA1: 915T>A; Cys305*
PubMed Link: 34490083
Variant Present in the following documents:
  • Main text
  • fonc-11-674965.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: 915T>A; Cys305X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent.

Frontiers In Oncology
Brovkina, Olga I OI; Shigapova, Leila L; Chudakova, Daria A DA; Gordiev, Marat G MG; Enikeev, Rafael F RF; Druzhkov, Maxim O MO; Khodyrev, Dmitriy S DS; Shagimardanova, Elena I EI; Nikitin, Alexey G AG; Gusev, Oleg A OA
Publication Date: 2018

Variant appearance in text: BRCA1: 915T>A
PubMed Link: 30333958
Variant Present in the following documents:
  • Main text
  • fonc-08-00421.pdf
View BVdb publication page