PIK3CA Mutation Analysis Test Cost & Procedure

What is PIK3CA, and why are PIK3CA mutations important? 

A lipid kinase called PIK3CA is a gene that is implicated in multiple signaling routes. These pathways have an impact on cellular processes like proliferation, death, and growth.

Fifteen to thirty percent  of breast, endometrial, and colon cancers had PIK3CA amendments.They are smaller in lung cancer and additional cancer varieties. Patients with breast, endometrial, or colon cancer who have PIK3CA mutations have a bad prognosis and do not respond to particular therapy. PIK3CA mutations can determine prognostically significant subgroups in lung venoms.

What do PIK3CA mutations in colon and breast cancer mean?

• Mammary Cancer

In patients with HER2 amplification, PIK3CA mutation predicts a reduced pathologic complete response rate after anti-HER2 therapy. In some patient cohorts with breast cancer, PIK3CA mutations may also be able to predict unfavorable outcomes without regard to treatment.

• Colon Cancer

A shorter duration of disease- and relapse-free survival is predicted by PIK3CA mutations. Patients with KRAS tumors that are wild-type as opposed to those with KRAS-mutated tumors are predicted to have increased mortality rates by PIK3CA point mutations. In some investigations but not in others, PIK3CA modifications have been correlated to antagonism to anti-EGFR antidote .  It's unclear why there is a discrepancy.

What are the identified PIK3CA mutations and how are they interpreted?

The PIK3CA gene's exons 1, 9, and 20 are sequenced by Quest Diagnostics. Over 91% of all PIK3CA cancer-associated mutations have been found in these exons. The most frequent mutations, especially those involving E542 and E545 in exon 9 and H1047 in exon 20, are linked to pathway activation, and clinical evidence is strong for their negative effects.  On the basis of structural and experimental research, the importance of PIK3CA mutations that are less frequently found can occasionally be deduced.

Background:

Providing individualized cancer care involves a growing importance of screening for oncogene and tumor suppressor gene alterations. Mutations in the PIK3CA gene have been linked to enhanced sensitivity to PI3 kinase pathway inhibitors in both pre-clinical investigations and recent clinical trials.

Recommended use

It is advised to utilize this test to check for the most prevalent activating mutations in the PI3 kinase alpha subunit.

Methodology:

Sanger sequencing of exons 9 and 20 is utilized to experiment for PIK3CA modifications in DNA from FFPE tumor tissue.

Specimen

A paraffin block or ten tumor compartments  are needed