BRCA1 c.4038_4096del ;(p.R1347*)

Variant ID: 17-41243452-CCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCCGTTCCTCTT-C

NM_007294.3(BRCA1):c.4038_4096del;(p.R1347*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Breast carcinomas with osteoclast-like giant cells: a comprehensive clinico-pathological and molecular portrait and evidence of RANK-L expression.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Cyrta, Joanna J; Benoist, Camille C; Masliah-Planchon, Julien J; Vieira, Andre F AF; Pierron, Gaëlle G; Fuhrmann, Laetitia L; Richardot, Camille C; Caly, Martial M; Leclere, Renaud R; Mariani, Odette O; Da Maia, Elisabeth E; Larousserie, Frédérique F; Féron, Jean Guillaume JG; Carton, Matthieu M; Renault, Victor V; Bidard, François-Clément FC; Vincent-Salomon, Anne A
Publication Date: 2022-11

Variant appearance in text: BRCA1: 3221_4096del
PubMed Link: 35697931
Variant Present in the following documents:
  • 41379_2022_1112_MOESM2_ESM.xlsx, sheet 6
View BVdb publication page



Next-Generation Sequencing-based genomic profiling of brain metastases of primary ovarian cancer identifies high number of BRCA-mutations.

Journal Of Neuro-Oncology
Balendran, S S; Liebmann-Reindl, S S; Berghoff, A S AS; Reischer, T T; Popitsch, N N; Geier, C B CB; Kenner, L L; Birner, P P; Streubel, B B; Preusser, M M
Publication Date: 2017-07

Variant appearance in text: BRCA1: 672_4096del
PubMed Link: 28497333
Variant Present in the following documents:
  • Main text
  • 11060_2017_Article_2459.pdf
View BVdb publication page