Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
3q26.32
Pathway
PI3K/AKT1/MTOR
Protein [2]
Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform
Synonyms [1]
MCAP, PI3K-alpha, p110-alpha, PI3K, CLAPO, CLOVE, CWS5, MCM, MCMTC

PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha) is a gene that encodes the protein phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform, a subunit of the PI3K protein. Phosphatidyl 3-kinases (PI3K) are a family of lipid kinases involved in many cellular processes, including cell growth, proliferation, differentiation, motility, and survival. Mutant PIK3CA has been implicated in the pathogenesis of several cancers, including colon cancer, glioma, gastric cancer, breast cancer, endometrial cancer, and lung cancer (COSMIC; PMID: 15016963).

 

PIK3CA is altered in 12.66% of all cancers with breast invasive ductal carcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, lung adenocarcinoma, and breast invasive lobular carcinoma having the greatest prevalence of alterations [3].

PIK3CA GENIE Cases - Top Diseases

The most common alterations in PIK3CA are PIK3CA Mutation (12.16%), PIK3CA Codon 1047 Missense (3.28%), PIK3CA Codon 545 Missense (2.88%), PIK3CA H1047R (2.93%), and PIK3CA E545K (2.61%) [3].

PIK3CA GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of PIK3CA in Diseases

Breast Carcinoma +

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Endometrial Carcinoma +

Melanoma +

Head And Neck Squamous Cell Carcinoma +

Colon Adenocarcinoma +

Cancer +

Squamous Cell Lung Carcinoma +

Gastric Adenocarcinoma +

Ovarian Carcinoma +

Pancreatic Carcinoma +

Non-Hodgkin Lymphoma +

Breast Adenocarcinoma +

Bladder Carcinoma +

Head And Neck Carcinoma +

Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Undifferentiated Pleomorphic Sarcoma +

Renal Cell Carcinoma +

Chondrosarcoma +

Soft Tissue Sarcoma +

Hepatocellular Carcinoma +

Malignant Uterine Neoplasm +

Invasive Breast Carcinoma +

Cervical Carcinoma +

Myxoid Liposarcoma +

Oropharyngeal Squamous Cell Carcinoma +

Colon Carcinoma +

Urothelial Carcinoma +

Rectal Adenocarcinoma +

Rectal Carcinoma +

Esophageal Squamous Cell Carcinoma +

Glioblastoma +

Malignant Glioma +

Gallbladder Carcinoma +

Angiosarcoma +

Anaplastic Astrocytoma +

Lung Carcinoma +

Liposarcoma +

Malignant Peripheral Nerve Sheath Tumor +

Bile Duct Carcinoma +

Cholangiocarcinoma +

Prostate Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Thyroid Gland Carcinoma +

Thymic Carcinoma +

Sarcoma +

Pleomorphic Liposarcoma +

Peritoneal Mesothelioma +

Osteosarcoma +

Desmoid-Type Fibromatosis +

Multiple Myeloma +

Leiomyosarcoma +

Lymphoma +

Histiocytic And Dendritic Cell Neoplasm +

Hematologic And Lymphocytic Disorder +

B-Cell Non-Hodgkin Lymphoma +

Ewing Sarcoma +

Hematopoietic And Lymphoid System Neoplasm +

Hematopoietic And Lymphoid Malignancy +

Follicular Lymphoma +

Myelodysplastic Syndromes +

Myeloid Neoplasm +

Aggressive Systemic Mastocytosis +

Bronchogenic Carcinoma +

Classical Hodgkin Lymphoma +

Extraskeletal Osteosarcoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Mast Cell Leukemia +

Myxofibrosarcoma +

Pecoma +

Pleomorphic Rhabdomyosarcoma +

Primary Peritoneal High Grade Serous Adenocarcinoma +

Systemic Mastocytosis With An Associated Hematological Neoplasm (SM-AHN) +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.