PIK3CA c.68_69del ;(p.E23Vfs*16)

Variant ID: 3-178916681-GAA-G

NM_006218.2(PIK3CA):c.68_69del;(p.E23Vfs*16)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Value of the loss of heterozygosity to BRCA1 variant classification.

Npj Breast Cancer
Santana Dos Santos, Elizabeth E; Spurdle, Amanda B AB; Carraro, Dirce M DM; Briaux, Adrien A; Southey, Melissa M; Torrezan, Giovana G; Petitalot, Ambre A; Leman, Raphael R; Lafitte, Philippe P; , ; Meseure, Didier D; Driouch, Keltouma K; Side, Lucy L; Brewer, Carole C; Beck, Sarah S; Melville, Athalie A; Callaway, Alison A; Revillion, Françoise F; Folgueira, Maria A A Koike MAAK; Parsons, Michael T MT; Thorne, Heather H; Vincent-Salomon, Anne A; Stoppa-Lyonnet, Dominique D; Bieche, Ivan I; Caputo, Sandrine M SM; Rouleau, Etienne E
Publication Date: 2022-01-17

Variant appearance in text: PIK3CA: 68_69del
PubMed Link: 35039532
Variant Present in the following documents:
  • 41523_2021_361_MOESM1_ESM.pdf
View BVdb publication page


Value of the loss of heterozygosity to BRCA1 variant classification.

Npj Breast Cancer
Santana Dos Santos, Elizabeth E; Spurdle, Amanda B AB; Carraro, Dirce M DM; Briaux, Adrien A; Southey, Melissa M; Torrezan, Giovana G; Petitalot, Ambre A; Leman, Raphael R; Lafitte, Philippe P; , ; Meseure, Didier D; Driouch, Keltouma K; Side, Lucy L; Brewer, Carole C; Beck, Sarah S; Melville, Athalie A; Callaway, Alison A; Revillion, Françoise F; Folgueira, Maria A A Koike MAAK; Parsons, Michael T MT; Thorne, Heather H; Vincent-Salomon, Anne A; Stoppa-Lyonnet, Dominique D; Bieche, Ivan I; Caputo, Sandrine M SM; Rouleau, Etienne E
Publication Date: 2022-01-17

Variant appearance in text: PIK3CA: 68_69del
PubMed Link: 35039532
Variant Present in the following documents:
  • 41523_2021_361_MOESM1_ESM.pdf
View BVdb publication page