BRCA2 c.5382_5383insC ;(p.K1795Qfs*12)

Variant ID: 13-32913874-A-AC

NM_000059.3(BRCA2):c.5382_5383insC;(p.K1795Qfs*12)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.

Plos One
Strom, Charles M CM; Rivera, Steven S; Elzinga, Christopher C; Angeloni, Taraneh T; Rosenthal, Sun Hee SH; Goos-Root, Dana D; Siaw, Martin M; Platt, Jamie J; Braastadt, Cory C; Cheng, Linda L; Ross, David D; Sun, Weimin W
Publication Date: 2015

Variant appearance in text: BRCA2: 5382_5383insC
PubMed Link: 26295337
Variant Present in the following documents:
  • pone.0136419.pdf
View BVdb publication page



Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.

Plos One
Carraro, Dirce Maria DM; Koike Folgueira, Maria Aparecida Azevedo MA; Garcia Lisboa, Bianca Cristina BC; Ribeiro Olivieri, Eloisa Helena EH; Vitorino Krepischi, Ana Cristina AC; de Carvalho, Alex Fiorini AF; de Carvalho Mota, Louise Danielle LD; Puga, Renato David RD; do Socorro Maciel, Maria M; Michelli, Rodrigo Augusto Depieri RA; de Lyra, Eduardo Carneiro EC; Grosso, Stana Helena Giorgi SH; Soares, Fernando Augusto FA; Achatz, Maria Isabel Alves de Souza Waddington MI; Brentani, Helena H; Moreira-Filho, Carlos Alberto CA; Brentani, Maria Mitzi MM
Publication Date: 2013

Variant appearance in text: BRCA2: 5382insC
PubMed Link: 23469205
Variant Present in the following documents:
View BVdb publication page