BRCA1 c.67_68delinsCT ;(p.E23L)

Variant ID: 17-41276046-TC-AG

NM_007294.3(BRCA1):c.67_68delinsCT;(p.E23L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India.

Precision Clinical Medicine
Sharma-Oates, Archana A; Shaaban, Abeer M AM; Tomlinson, Ian I; Wynne, Luke L; Cazier, Jean-Baptiste JB; Sundar, Sudha S
Publication Date: 2018-09

Variant appearance in text: BRCA1: Glu23Leu
PubMed Link: 35693198
Variant Present in the following documents:
  • Main text
  • pby010.pdf
View BVdb publication page



Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome.

Cancer Management And Research
Ashour, Mohamed M; Ezzat Shafik, Hanan H
Publication Date: 2019

Variant appearance in text: BRCA1: Glu23Leu
PubMed Link: 31372034
Variant Present in the following documents:
  • Main text
  • cmar-11-6275.pdf
View BVdb publication page



Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice.

Oncotarget
Solano, Angela Rosaria AR; Cardoso, Florencia Cecilia FC; Romano, Vanesa V; Perazzo, Florencia F; Bas, Carlos C; Recondo, Gonzalo G; Santillan, Francisco Bernardo FB; Gonzalez, Eduardo E; Abalo, Eduardo E; Viniegra, María M; Michel, José Davalos JD; Nuñez, Lina María LM; Noblia, Cristina Maria CM; Mc Lean, Ignacio I; Canton, Enrique Diaz ED; Chacon, Reinaldo Daniel RD; Cortese, Gustavo G; Varela, Eduardo Beccar EB; Greco, Martín M; Barrientos, María Laura ML; Avila, Silvia Adela SA; Vuotto, Hector Daniel HD; Lorusso, Antonio A; Podesta, Ernesto Jorge EJ; Mando, Oscar Gaspar OG
Publication Date: 2017-09-01

Variant appearance in text: BRCA1: Glu23Leu
PubMed Link: 28947987
Variant Present in the following documents:
  • Main text
  • oncotarget-08-60487.pdf
View BVdb publication page