STK11 Mutation Analysis: Peutz-Jeghers Syndrome (PJS) 11 Exons Test Cost & Procedure

An inherited condition known as Peutz-Jeghers syndrome (PJS) is characterised by intestinal hamartomatous polyps along with a distinctive pattern of skin and mucosal macular melanin deposition. Compared to the general population, those with Peutz-Jeghers syndrome have an estimated 15-fold higher chance of acquiring intestinal cancer.

Test description

The STK11 gene, which is linked to Peutz-Jeghers syndrome, is analysed by this test (PJS). A cancer predisposition syndrome called PJS is characterised by mucocutaneous pigmentation, a high number of precancerous polyps in the digestive system, and a higher chance of acquiring a number of cancers.

A genetic test for this gene may support a diagnosis and aid in determining the best course of treatment and care. The testing and identification of relatives who are at risk would be guided by the discovery of a disease-causing variation. This test is not appropriate for detecting somatic mutations in tumour tissue because it is only intended to detect heritable germline mutations.

Normal Operation

The serine/threonine kinase 11 gene, also known as LKB1, contains instructions for producing the enzyme. This enzyme functions as a tumour suppressor, preventing uncontrolled or excessive cell growth and division. This enzyme aids in detecting the amount of energy a cell consumes and assists in polarising particular types of cells inside tissues appropriately. Apoptosis, a kind of programmed cell death, is also accomplished by this kinase. The action of serine/threonine kinase 11 appears to be necessary for normal development before to birth in addition to its function as a tumour suppressor.

How Does STK11 boost Your chance for Cancer?

Serine/threonine kinase 11 is produced normally by the STK11 gene and performs the following crucial tasks:

• It functions as a tumour suppressor, which implies that it prevents uncontrolled cell growth and excessive cell division.
• It aids in certain cells' proper positioning within tissues.
• It aids in calculating the amount of energy a cell consumes.
• It encourages a particular sort of apoptosis, a process in which injured cells pass away as opposed to replicating and passing along their genetic flaws.

What Should You accomplish if Your STK11 Examination Is Positive?

It can be frightening to understand you possess a genetic abnormality. However, knowing the STK11 anomaly might help you better understand your cancer risk and inform other family members of their own dangers.