What is a PIK3CA mutation?
PIK3CA gene mutations cause cells to grow uncontrollably, which can lead to cancer. PIK3CA gene mutations are linked to breast cancer, as well as to cancers of the ovary, lung, stomach, and brain. Breast cancer likely stems from a combination of changes to PIK3CA and other genes.
How common is PIK3CA mutation?
PIK3CA gene mutations are common in breast cancer, occurring in roughly 30% to 40% of tumors, and most commonly found in estrogen receptor-positive breast cancer.
Is the PIK3CA mutation hereditary?
A PIK3CA mutation is not inherited (cannot be passed down to children). The PIK3CA gene is the most commonly mutated gene in HR+/HER2- breast cancer, affecting about 40% of people with that subtype. PIK3CA mutations have been linked to cancer growth.
What is PIK3CA mutation testing?
The cobas PIK3CA Mutation Test is a real-time PCR test for the qualitative detection and identification of 17 mutations in exons 2, 5, 8, 10, and 21 in the gene encoding the catalytic subunit of PIK3CA in DNA isolated from formalin-fixed paraffin-embedded tissue (FFPET).
What cancers have PIK3CA mutation?
The p110α protein is a class I PI3-kinase catalytic subunit. The human p110α protein is encoded by the PIK3CA gene. Recent evidences has demonstrated that the PIK3CA gene is mutated in a range of human cancers including: colon, ovary, breast, brain, liver, stomach and lung.
Is PIK3CA an oncogene or tumor suppressor?
With regard to mutation frequencies, PIK3CA is the most frequently mutated oncogene in human cancers. Generally pik3ca gene is deregulated by PTEN gene (tumor suppressor gene). In many tumors PTEN mutation leads to hyperactivity of PIK3CA oncogene [9].
When is PIK3CA mutation tested?
Who should get tested, and when? The test is intended to identify PIK3CA mutation in HR+/HER2- male or post-menopausal female breast cancer patients with advanced or metastatic disease that progressed on or after endocrine therapy. Testing is appropriate when patients present with metastases.
What does PIK3CA stand for?
PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha) is a Protein Coding gene. Diseases associated with PIK3CA include Hepatocellular Carcinoma and Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome.
What causes PIK3CA mutations?
Most PIK3CA gene mutations involved in MCAP change single amino acids in the p110α protein. These mutations lead to the production of an altered p110α subunit that makes PI3K abnormally active. The resulting unregulated signaling allows cells to grow and divide continuously.
Is fulvestrant a steroid?
Fulvestrant is a steroidal antiestrogen that is used in the treatment of hormone-receptor positive metastatic breast cancer.
Is PIK3CA an oncogene?
PIK3CA is a human gene that regulates various cellular functions including proliferation and invasion. Because it is an oncogene, its activation by either gene amplification or mutation results in a cellular growth advantage contributing toward cancer formation and progression.
What causes PIK3CA mutation?
Is there a mutation in the PIK3CA gene?
PIK3CA is altered in 6.36% of non-small cell lung carcinoma patients with PIK3CA Mutation present in 5.65% of all non-small cell lung carcinoma patients [ 4 ]. PIK3CA Mutation is an inclusion criterion in 10 clinical trials for non-small cell lung carcinoma, of which 5 are open and 5 are closed.
Which is breast cancer cell lines contain a PIK3CA mutation?
Also of note is that the common breast cancer cell lines used in preclinical experiments (MCF7 and T47D) contain a PIK3CA mutation (helical and kinase domains, respectively). These cell lines strongly express ER, are of the ‘luminal A’ phenotype and are sensitive to treatment with the hormonal agent tamoxifen [ 36 ].
How many chondrosarcoma patients have the PIK3CA mutation?
PIK3CA is altered in 2.58% of chondrosarcoma patients with PIK3CA Mutation present in 2.58% of all chondrosarcoma patients [ 4 ]. PIK3CA Mutation is an inclusion criterion in 2 clinical trials for chondrosarcoma, of which 2 are open and 0 are closed.
What is the role of PI3K in carcinogenesis?
Class IA PI3Ks represent the most extensively studied subclass, with implications in human carcinogenesis [ 3 ]. They are heterodimers consisting of a catalytic (p110) and a regulatory (p85) subunit, with the latter stabilizing the former in quiescent cells and suppressing PI3K activity.