Associated Genetic Biomarkers


Gene Location [1]

PIK3CA Mutation is present in 11.96% of AACR GENIE cases, with breast invasive ductal carcinoma, colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, and breast invasive lobular carcinoma having the greatest prevalence [4].

Top Disease Cases with PIK3CA Mutation

Significance of PIK3CA Mutation in Diseases

Breast Carcinoma +

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Melanoma +

Endometrial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

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 +

Colon Adenocarcinoma +

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 +


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 6. 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.