BRCA2 c.-197A>C

Variant ID: 13-32889647-A-C

NM_000059.4(BRCA2):c.-197A>C

This variant was identified in 1 publication

View GRCh38 version.




Publications:


BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.

Human Mutation
Burke, Leslie J LJ; Sevcik, Jan J; Gambino, Gaetana G; Tudini, Emma E; Mucaki, Eliseos J EJ; Shirley, Ben C BC; Whiley, Phillip P; Parsons, Michael T MT; De Leeneer, Kim K; Gutiérrez-Enríquez, Sara S; Santamariña, Marta M; Caputo, Sandrine M SM; Santana Dos Santos, Elizabeth E; Soukupova, Jana J; Janatova, Marketa M; Zemankova, Petra P; Lhotova, Klara K; Stolarova, Lenka L; Borecka, Mariana M; Moles-Fernández, Alejandro A; Manoukian, Siranoush S; Bonanni, Bernardo B; , ; Edwards, Stacey L SL; Blok, Marinus J MJ; van Overeem Hansen, Thomas T; Rossing, Maria M; Diez, Orland O; Vega, Ana A; Claes, Kathleen B M KBM; Goldgar, David E DE; Rouleau, Etienne E; Radice, Paolo P; Peterlongo, Paolo P; Rogan, Peter K PK; Caligo, Maria M; Spurdle, Amanda B AB; Brown, Melissa A MA
Publication Date: 2018-12

Variant appearance in text: rs370721506
PubMed Link: 30204945
Variant Present in the following documents:
  • Main text
  • HUMU-39-2025-s001.pdf
  • HUMU-39-2025.pdf
View BVdb publication page