Item Details
Gene/Locus name PIK3CA (also called "phosphoinositide-3-kinase, catalytic, alpha polypeptide",PI3K ) What are gene names?
Long Namephosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
Edit date 10:54 AM, 18 Feb 2014
MBS listing No MBS Listing
Laboratories Australian and New Zealand laboratories providing this test can be found by clicking here.
Method Laboratories may use a variety of methods to identify genetic variants. The sensitivity and specificity of these methods can vary, and some pathogenic variants in the gene may not be identified. The failure to identify a pathogenic variant may not necessarily mean that the gene is normal. Requestors should seek further advice from the laboratory.
Reference sequence NM_006218
Application Variations in this gene/locus can be associated with following disorder/s:

Breast cancer, somatic, OMIM 114480
CLOVE syndrome, somatic, OMIM 612918
Colorectal cancer, somatic, OMIM 114500
Cowden syndrome 5, OMIM 615108
Gastric cancer, somatic, OMIM 613659
Hepatocellular carcinoma, somatic, OMIM 114550
Keratosis, seborrheic, somatic, OMIM 182000
Megalencephaly-capillary malformation-polymicrogyria syndrome,somatic, OMIM 602501
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic, OMIM 603387
Nevus, epidermal, somatic, OMIM 162900
Nonsmall cell lung cancer, somatic, OMIM 211980
Ovarian cancer, somatic, OMIM 167000

Requestors should be aware that testing for inherited genetic variants often raises significant medical, ethical, psychological, and legal issues. Testing should be done in accordance with national guidelines which address clinical issues NHMRC and laboratory requirements NPAAC. Consultation with the genetics laboratory, a specialist clinician, or a clinical genetics service may be warranted.
Interpretation / Comment Laboratory methods do not necessarily identify all of the clinically significant variants in a gene. The failure to identify a variant does not necessarily mean that the gene is normal. Variants in a gene may cause more than one disease, and the identification of a clinically significant variant does not necessarily indicate the specific disease that the patient or relatives may be at risk of developing. Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene does not necessarily alter the clinical diagnosis or risk for relatives.
Reference OMIM 171834