BRCA2 c.3034del ;(p.A1012Lfs*31)

Variant ID: 13-32911526-AG-A

NM_000059.3(BRCA2):c.3034del;(p.A1012Lfs*31)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.

Bmc Medical Genetics
Silva, Felipe C FC; Lisboa, Bianca Cg BC; Figueiredo, Marcia Cp MC; Torrezan, Giovana T GT; Santos, Erika Mm EM; Krepischi, Ana C AC; Rossi, Benedito M BM; Achatz, Maria I MI; Carraro, Dirce M DM
Publication Date: 2014-05-15

Variant appearance in text: BRCA2: 3034del
PubMed Link: 24884479
Variant Present in the following documents:
  • Main text
  • 1471-2350-15-55.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: 3034del
PubMed Link: 23469205
Variant Present in the following documents:
  • Main text
  • pone.0057581.pdf
View BVdb publication page



A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.

Bmc Medical Genetics
Garcia-Casado, Zaida Z; Romero, Ignacio I; Fernandez-Serra, Antonio A; Rubio, Luis L; Llopis, Francisco F; Garcia, Ana A; Llombart, Pilar P; Lopez-Guerrero, Jose A JA
Publication Date: 2011-10-11

Variant appearance in text: BRCA2: 3034del
PubMed Link: 21989022
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-134.pdf
View BVdb publication page