BRCA2 c.646del ;(p.A216Hfs*14)

Variant ID: 13-32903594-AG-A

NM_000059.3(BRCA2):c.646del;(p.A216Hfs*14)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review.

Hereditary Cancer In Clinical Practice
Loza, P P; Irmejs, A A; Daneberga, Z Z; Miklasevics, E E; Berga-Svitina, E E; Subatniece, S S; Maksimenko, J J; Trofimovics, G G; Tauvena, E E; Ukleikins, S S; Gardovskis, J J
Publication Date: 2021-01-19

Variant appearance in text: BRCA2: 646delG
PubMed Link: 33468216
Variant Present in the following documents:
  • Main text
  • 13053_2021_Article_168.pdf
View BVdb publication page



BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families.

Bmc Medical Genetics
Berzina, Dace D; Nakazawa-Miklasevica, Miki M; Zestkova, Jekaterina J; Aksenoka, Karina K; Irmejs, Arvids A; Gardovskis, Andris A; Kalniete, Dagnija D; Gardovskis, Janis J; Miklasevics, Edvins E
Publication Date: 2013-06-14

Variant appearance in text: BRCA2: 646delG
PubMed Link: 23767878
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-61.pdf
View BVdb publication page