PIK 3CA

PIK 3CA Mutation Test

Activating mutations in PIK3CA are common in several cancers.

Diagomet DNA test can help assess identify mutations in PIK3CA in patient tumors.

The test results will allow doctors decide on the appropriate treatment plan. Also, should help pharmaceutical companies developing PIK3CA inhibitors in their clinical trials by providing PIK3CA mutational status of the patients .

Purpose of the Test

The mutational status of the PIK3CA gene can aid patients and physicians in determining appropriate steps and the effectiveness of targeted therapies.

Background

The PIK3CA gene codes for human p110?, the catalytic subunit of the PI3K protein. PI3K are a family of lipid kinases that are involved in many pathways including proliferation, differentiation, migration, trafficking, and glucose homeostasis. Mutations in PIK3CA gene have been reported in many cancers, including colorectal cancer, glioblastoma, gastric cancer, breast cancer and cervical cancer. The most common mutations, hotspot mutations, are E545K and H1047R. Screening for mutations can identify patients who may respond to certain therapies, such as PI3K inhibitors.

Test Method

PCR amplification and sequencing of PIK3CA exons will be performed using tumor DNA.

Sample Requirements

We require 1 slide stained with hematoxylin-and-eosin and 10 unstained, nonbaked slides with 10- thick sections of FFPE tumor tissue. The tumor section should contain at least 70% tumor content as verified by a qualified pathologist. Pathology report and a scanned copy of the slides used to assess tumor content should accompany specimen in order for testing to be performed. We can also accept fresh frozen tumor sample. However, we require that the tumor is sectioned and a pathology report be generated that includes an assessment of tumor content - Please call +91-484-2413399/97 or email askus@medgenome.com if you have questions.

References

1. Katso R, Okkenhaug K, Ahmadi K, White S, et al. (2001) Cellular function of phosphoinositide 3-kinases: implications for development, homeostasis, and cancer. Annu Rev Cell Dev Biol 17: 615 - 75

2. Samuels Y, Wang Z, Bardelli A, et al. (2004) High frequency of mutations of the PIK3CA gene in human cancers. Science 304: 554

3. Broderick DK, Di C, Parrett TJ, Samuels YR, et al. (2004) Mutations of PIK3CA in anaplasticoligodendrogliomas, high-grade astrocytomas, and medulloblastomas. Cancer Res 64: 5048 - 50

4. Campbell IG, Russell SE, Choong DY (2004) Mutation of the PIK3CA gene inovarian and breast cancer. Cancer Res 64: 7678 - 81

5. Garcia-Rostan G, Costa AM, Pereira-Castro I, et al. (2005) Mutation of the PIK3CA gene in anaplastic thyroid cancer. Cancer Res 65: 10199 - 207

6. Lee JW, Soung YH, Kim SY, et al. (2005) PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. Oncogene 24: 1477 - 80