POLE c.806del ;(p.P269Lfs*26)

Variant ID: 12-133253234-AG-A

NM_006231.2(POLE):c.806del;(p.P269Lfs*26)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: POLE: 806delC; P269fs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



First description of ultramutated endometrial cancer caused by germline loss-of-function and somatic exonuclease domain mutations in POLE gene.

Genetics And Molecular Biology
Rosa, Reginaldo Cruz Alves RCA; Yurchenko, Andrey A AA; Chahud, Fernando F; Ribeiro-Silva, Alfredo A; Brunaldi, Mariângela Ottoboni MO; Silva, Wilson Araújo WA; Kannouche, Patricia L PL; Nikolaev, Sergey S; Ferraz, Victor Evangelista de Faria VEF
Publication Date: 2020

Variant appearance in text: POLE: 806delC
PubMed Link: 33001133
Variant Present in the following documents:
  • Main text
  • 1415-4757-GMB-43-4-e20200100.pdf
View BVdb publication page