BRCA1 c.4964del ;(p.S1655Lfs*3)

Variant ID: 17-41222967-AG-A

NM_007294.3(BRCA1):c.4964del;(p.S1655Lfs*3)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


BRCA mutation rate and characteristics of prostate tumor in breast and ovarian cancer families: analysis of 6,591 Italian pedigrees.

Cancer Biology & Medicine
Cortesi, Laura L; Domati, Federica F; Guida, Annalisa A; Marchi, Isabella I; Toss, Angela A; Barbieri, Elena E; Marcheselli, Luigi L; Venturelli, Marta M; Piana, Simonetta S; Cirilli, Claudia C; Federico, Massimo M
Publication Date: 2021-03-12

Variant appearance in text: BRCA1: 4964delC
PubMed Link: 33710808
Variant Present in the following documents:
  • cbm-18-470.pdf
View BVdb publication page



Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.

Bmc Medical Genetics
Cini, Giulia G; Mezzavilla, Massimo M; Della Puppa, Lara L; Cupelli, Elisa E; Fornasin, Alessio A; D'Elia, Angela Valentina AV; Dolcetti, Riccardo R; Damante, Giuseppe G; Bertok, Sara S; Miolo, Gianmaria G; Maestro, Roberta R; de Paoli, Paolo P; Amoroso, Antonio A; Viel, Alessandra A
Publication Date: 2016-02-06

Variant appearance in text: BRCA1: 4964del
PubMed Link: 26852130
Variant Present in the following documents:
  • Main text
  • 12881_2016_Article_274.pdf
View BVdb publication page