Annotation Detail

Information
Associated Genes
AKT1
Associated Variants
AKT1 MUTATION
AKT1 MUTATION
Associated Disease
inflammatory breast carcinoma
Source Database
DisGeNET
Description
Eighty-nine cases of pure high-grade DCIS and 119 cases of high-grade DCIS associated with IBC were characterized according to estrogen receptor (ER) and HER2 status, subjected to immunohistochemical analysis of PTEN, INPP4B, phosphorylated (p)AKT and pS6 expression, and to microdissection followed by Sequenom genotyping of PIK3CA and AKT1 hotspot mutations.
Pubmed
24634376
Section of the abstract supporting the evidence
EXPERIMENTAL DESIGN
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
2
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Drugs