Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Gene Location [1]

PIK3CA Mutation is present in 12.16% of AACR GENIE cases, with breast invasive ductal carcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, lung adenocarcinoma, and breast invasive lobular carcinoma having the greatest prevalence [4].

Top Disease Cases with PIK3CA Mutation

Significance of PIK3CA Mutation in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Endometrial Carcinoma +

Melanoma +

Head And Neck Squamous Cell Carcinoma +

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 Adenocarcinoma +

Urothelial Carcinoma +

Rectal Adenocarcinoma +

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) +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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

3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

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