BRCA2 c.2505dup ;(p.P836Tfs*2)

Variant ID: 13-32910996-C-CA

NM_000059.3(BRCA2):c.2505dup;(p.P836Tfs*2)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

Scientific Reports
Palmero, Edenir Inêz EI; Carraro, Dirce Maria DM; Alemar, Barbara B; Moreira, Miguel Angelo Martins MAM; Ribeiro-Dos-Santos, Ândrea Â; Abe-Sandes, Kiyoko K; Galvão, Henrique Campos Reis HCR; Reis, Rui Manuel RM; de Pádua Souza, Cristiano C; Campacci, Natalia N; Achatz, Maria Isabel MI; Brianese, Rafael Canfield RC; da Cruz Formiga, Maria Nirvana MN; Makdissi, Fabiana Baroni FB; Vargas, Fernando Regla FR; Evangelista Dos Santos, Anna Cláudia AC; Seuanez, Hector N HN; Lobo de Souza, Kelly Rose KR; Netto, Cristina B O CBO; Santos-Silva, Patrícia P; da Silva, Gustavo Stumpf GS; Burbano, Rommel M R RMR; Santos, Sidney S; Assumpção, Paulo Pimentel PP; Bernardes, Izabel Maria Monteiro IMM; Machado-Lopes, Taisa Manuela Bonfim TMB; Bomfim, Thais Ferreira TF; Toralles, Maria Betânia Pereira MBP; Nascimento, Ivana I; Garicochea, Bernardo B; Simon, Sergio D SD; Noronha, Simone S; de Lima, Fernanda Teresa FT; Chami, Anisse Marques AM; Bittar, Camila Matzenbacher CM; Bines, Jose J; Artigalas, Osvaldo O; Esteves-Diz, Maria Del Pilar MDP; Lajus, Tirzah Braz Petta TBP; Gifoni, Ana Carolina Leite Vieira Costa ACLVC; Guindalini, Rodrigo S C RSC; Cintra, Terezinha Sarquis TS; Schwartz, Ida V D IVD; Bernardi, Pricila P; Miguel, Diego D; Nogueira, Sonia Tereza Dos Santos STDS; Herzog, Josef J; Weitzel, Jeffrey N JN; Ashton-Prolla, Patricia P
Publication Date: 2018-06-15

Variant appearance in text: BRCA2: 2505dupA
PubMed Link: 29907814
Variant Present in the following documents:
  • Main text
  • 41598_2018_27315_MOESM1_ESM.xlsx, sheet 3
  • 41598_2018_27315_MOESM1_ESM.xlsx, sheet 2
  • 41598_2018_Article_27315.pdf
View BVdb publication page



BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

Plos One
Alemar, Bárbara B; Gregório, Cleandra C; Herzog, Josef J; Matzenbacher Bittar, Camila C; Brinckmann Oliveira Netto, Cristina C; Artigalas, Osvaldo O; Schwartz, Ida Vanessa D IVD; Coffa, Jordy J; Alves Camey, Suzi S; Weitzel, Jeffrey J; Ashton-Prolla, Patricia P
Publication Date: 2017

Variant appearance in text: BRCA2: 2505dupA; Pro836Thrfs
PubMed Link: 29161300
Variant Present in the following documents:
  • Main text
  • pone.0187630.s002.xlsx, sheet 1
  • pone.0187630.pdf
View BVdb publication page