BRCA2 c.3339del ;(p.E1113Dfs*6)

Variant ID: 13-32911829-GA-G

NM_000059.3(BRCA2):c.3339del;(p.E1113Dfs*6)

This variant was identified in 2 publications

View GRCh38 version.




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: BRCA2: 3339del; Glu1113Aspfs*6
PubMed Link: 33233347
Variant Present in the following documents:
  • Main text
  • cancers-12-03468.pdf
View BVdb publication page



Second primary rhabdomyosarcoma of the uterine cervix presenting with synchronous ovarian Sertoli-Leydig cell tumor: An illustrative case of DICER1 syndrome.

Gynecologic Oncology Reports
Cowan, Matthew M; Suntum, Tara T; Olivas, Andrea D AD; Perpich, Melody M; Applebaum, Mark A MA; Lastra, Ricardo R RR; Yamada, S Diane SD
Publication Date: 2018-08

Variant appearance in text: BRCA2: 3339del
PubMed Link: 30014022
Variant Present in the following documents:
  • main.pdf
View BVdb publication page