BRCA1 c.5234del ;(p.N1745Tfs*20)

Variant ID: 17-41209111-GT-G

NM_007294.3(BRCA1):c.5234del;(p.N1745Tfs*20)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.

Hereditary Cancer In Clinical Practice
Wojcik, P P; Jasiowka, M M; Strycharz, E E; Sobol, M M; Hodorowicz-Zaniewska, D D; Skotnicki, P P; Byrski, T T; Blecharz, P P; Marczyk, E E; Cedrych, I I; Jakubowicz, J J; LubiƄski, J J; Sopik, V V; Narod, S S; Pierzchalski, P P
Publication Date: 2016

Variant appearance in text: BRCA1: 5232del
PubMed Link: 26843898
Variant Present in the following documents:
  • Main text
  • 13053_2016_Article_46.pdf
View BVdb publication page



New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

Bmc Medical Genomics
Kluska, Anna A; Balabas, Aneta A; Paziewska, Agnieszka A; Kulecka, Maria M; Nowakowska, Dorota D; Mikula, Michal M; Ostrowski, Jerzy J
Publication Date: 2015-05-07

Variant appearance in text: BRCA1: 5232del
PubMed Link: 25948282
Variant Present in the following documents:
  • Main text
  • 12920_2015_Article_92.pdf
View BVdb publication page