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BRCA1 c.5296del ;(p.I1766Sfs*27)
Variant ID: 17-41203115-AT-A
NM_007294.3(
BRCA1
):c.5296del;(p.I1766Sfs*27)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements.
Cancers
Turashvili, Gulisa G; Lazaro, Conxi C; Ying, Shengjie S; Charames, George G; Wong, Andrew A; Hamilton, Krista K; Yee, Denise D; Agro, Evangeline E; Chang, Martin M; Pollett, Aaron A; Lerner-Ellis, Jordan J
Publication Date: 2020-11-21
Variant appearance in text: BRCA1: 5296del; Ile1766Serfs*27
PubMed Link:
33233347
Variant Present in the following documents:
Main text
cancers-12-03468.pdf
View BVdb publication page
Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.
Scientific Reports
De Talhouet, Solene S; Peron, Julien J; Vuilleumier, Aurelie A; Friedlaender, Alex A; Viassolo, Valeria V; Ayme, Aurélie A; Bodmer, Alexandre A; Treilleux, Isabelle I; Lang, Noemie N; Tille, Jean- Christophe JC; Chappuis, Pierre O PO; Buisson, Adrien A; Giraud, Sophie S; Lasset, Christine C; Bonadona, Valerie V; Trédan, Olivier O; Labidi-Galy, S Intidhar SI
Publication Date: 2020-04-27
Variant appearance in text: BRCA1: 5296del; Ile1766Serfs*27
PubMed Link:
32341426
Variant Present in the following documents:
41598_2020_63759_MOESM1_ESM.pdf
View BVdb publication page