SCIENTIFIC BACKGROUND

PIK3CA, AKT1

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Scientific Background

The ForeSENTIA PIK3CA and AKT1 Gene-Focused Panel tests for single nucleotide variants, insertions and deletions on the PIK3CA and AKT1 genes. PIK3CA and AKT1 are two genes that transcribe two separate protein kinases, PI3K and AKT1 respectively. Both proteins belong to the PI3K/AKT pathway and play an essential role in regulating different signaling pathways and processes in the cells, such as cell division and survival.

 

In cancer, these genes can be mutated leading to aberrant activation of the PI3K/AKT pathway. As a result, this will cause an increase in cell proliferation and cancer progression. Some examples of cancers caused as a result include colorectal, breast, prostate, NSCLC, and others.

 

Different drugs against PIK3CA and AKT1 are currently being studied for their efficacy in different types of tumors. One drug that was approved by FDA and EMA, alpelisib, targets PIK3CA mutations in patients with breast cancer.

 

References and more information: 

Beaver JA, Gustin JP, Yi KH, Rajpurohit A, Thomas M, Gilbert SF, Rosen DM, Ho Park B, Lauring J. PIK3CA and AKT1 mutations have distinct effects on sensitivity to targeted pathway inhibitors in an isogenic luminal breast cancer model system. Clin Cancer Res. 2013 Oct 1;19(19):5413-22. doi: 10.1158/1078-0432.CCR-13-0884. Epub 2013 Jul 25. PMID: 23888070; PMCID: PMC3805128.

He Y, Sun MM, Zhang GG, Yang J, Chen KS, Xu WW, Li B. Targeting PI3K/Akt signal transduction for cancer therapy. Signal Transduct Target Ther. 2021 Dec 16;6(1):425. doi: 10.1038/s41392-021-00828-5. PMID: 34916492; PMCID: PMC8677728.

GENES

PIK3CA, AKT1
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