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]
PI3K-alpha, MCM, MCMTC, CLOVE, MCAP, PI3K, p110-alpha, CWS5

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 12.35% of all cancers with breast invasive ductal carcinoma, colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid 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 (18.16%), PIK3CA H1047R (4.31%), PIK3CA E545K (3.74%), PIK3CA E542K (2.33%), and PIK3CA Amplification (0.86%) [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 +

Melanoma +

Endometrial Carcinoma +

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 +

Glioblastoma +

Small Cell Lung Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

Renal Cell Carcinoma +

Hepatocellular Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Chondrosarcoma +

Head And Neck Carcinoma +

Malignant Uterine Neoplasm +

Invasive Breast Carcinoma +

Cervical Carcinoma +

Urothelial Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Myxoid Liposarcoma +

Malignant Glioma +

Rectal Adenocarcinoma +

Angiosarcoma +

Gallbladder Carcinoma +

Esophageal Squamous Cell Carcinoma +

Anaplastic Astrocytoma +

Lung Carcinoma +

Esophageal Carcinoma +

Bile Duct Carcinoma +

Cholangiocarcinoma +

Liposarcoma +

Thyroid Gland Carcinoma +

Prostate Carcinoma +

Soft Tissue Sarcoma +

Sarcoma +

Lymphoma +

Leiomyosarcoma +

Aggressive Systemic Mastocytosis +

B-Cell Non-Hodgkin Lymphoma +

Bronchogenic Carcinoma +

Classical Hodgkin Lymphoma +

Desmoid-Type Fibromatosis +

Ewing Sarcoma +

Extraskeletal Osteosarcoma +

Hematologic And Lymphocytic Disorder +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Histiocytic And Dendritic Cell Neoplasm +

Malignant Peripheral Nerve Sheath Tumor +

Mast Cell Leukemia +

Multiple Myeloma +

Myelodysplastic Syndromes +

Myeloid Neoplasm +

Myxofibrosarcoma +

Osteosarcoma +

Pecoma +

Peritoneal Mesothelioma +

Pleomorphic Liposarcoma +

Pleomorphic Rhabdomyosarcoma +

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

Thymic Carcinoma +

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 6. 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.