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BRCA1 c.5431_5432delinsAC ;(p.Q1811T)
Variant ID: 17-41199695-TG-GT
NM_007294.3(
BRCA1
):c.5431_5432delinsAC;(p.Q1811T)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
BRCA1/2 NGS Somatic Testing in Clinical Practice: A Short Report.
Genes
Pepe, Francesco F; Pisapia, Pasquale P; Russo, Gianluca G; Nacchio, Mariantonia M; Pallante, Pierlorenzo P; Vigliar, Elena E; De Angelis, Carmine C; Insabato, Luigi L; Bellevicine, Claudio C; De Placido, Sabino S; Troncone, Giancarlo G; Malapelle, Umberto U
Publication Date: 2021-11-28
Variant appearance in text: BRCA1: Q1811T
PubMed Link:
34946865
Variant Present in the following documents:
Main text
genes-12-01917.pdf
View BVdb publication page
BRCA1/2 NGS Somatic Testing in Clinical Practice: A Short Report.
Genes
Pepe, Francesco F; Pisapia, Pasquale P; Russo, Gianluca G; Nacchio, Mariantonia M; Pallante, Pierlorenzo P; Vigliar, Elena E; De Angelis, Carmine C; Insabato, Luigi L; Bellevicine, Claudio C; De Placido, Sabino S; Troncone, Giancarlo G; Malapelle, Umberto U
Publication Date: 2021-11-28
Variant appearance in text: BRCA1: Q1811T
PubMed Link:
34946865
Variant Present in the following documents:
Main text
genes-12-01917.pdf
View BVdb publication page
The fate of BRCA1-related germline mutations in triple-negative breast tumors.
American Journal Of Cancer Research
Kotoula, Vassiliki V; Fostira, Florentia F; Papadopoulou, Kyriaki K; Apostolou, Paraskevi P; Tsolaki, Eleftheria E; Lazaridis, Georgios G; Manoussou, Kyriaki K; Zagouri, Flora F; Pectasides, Dimitrios D; Vlachos, Ioannis I; Tikas, Ioannis I; Lakis, Sotiris S; Konstantopoulou, Irene I; Pentheroudakis, George G; Gogas, Helen H; Papakostas, Pavlos P; Christodoulou, Christos C; Bafaloukos, Dimitrios D; Razis, Evangelia E; Karavasilis, Vasilios V; Bamias, Christina C; Yannoukakos, Drakoulis D; Fountzilas, George G
Publication Date: 2017
Variant appearance in text: BRCA1: Q1811t
PubMed Link:
28123851
Variant Present in the following documents:
Main text
View BVdb publication page