CDKN2A Melanoma Predisposition Test

• The material for testing is blood.
• The patient does not need to fast. It is recommended to drink fluids before the examination.

Samples brought from outside are not accepted for testing.

In the genetic predisposition test for melanoma, the A148T mutation in the CDKN2A gene is detected.
Melanoma is a cancer that originates from melanocytes, cells that produce the pigment melanin and are found primarily in the skin. Therefore, it most commonly develops in the skin (90% of cases), although it can also affect other organs and tissues, such as the inside of the eyeball, mouth, larynx, esophagus, intestines, and stomach. Melanoma is caused by long-term exposure to mutagenic factors (e.g., UV radiation) and a defective DNA repair system.

TEST RECOMMENDED FOR PATIENTS:
• who were diagnosed with melanoma before the age of 40
• in families with at least two cases of melanoma
• in families with a history of melanoma and brain, pancreatic or breast cancer
• having numerous moles or suffering from dysplastic mole syndrome
• exposed to other risk factors for the development of melanoma, e.g. frequent sunburns,
• excessive exposure to UV rays (solarium).
Risk factors include:
• fair skin with blond or red hair and blue or gray eyes •
a large number of freckles
• skin redness and burn symptoms even at low doses of sunlight
• numerous moles
• dysplastic nevus syndrome
• family history, genetic predisposition
• excessive exposure to UV radiation
• sunburn before the age of 14.
TEST RECOMMENDED FOR PATIENTS:
• who were diagnosed with melanoma before the age of 40
• who have at least two family cases of melanoma
• who have a family history of melanoma and brain, pancreas, or breast cancer
• who have numerous moles or dysplastic nevus syndrome
• who are exposed to other risk factors for melanoma, e.g., frequent sunburn, excessive exposure to UV radiation (solarium).
The mechanism of cancer development is complex. The CDKN2A gene, whose protein products regulate the cell cycle, plays an important role in the development of melanoma. A carrier of the A148T mutation in the CDKN2A gene has a 30% risk of developing malignant melanoma. However, if their relatives have had this cancer, this risk is significantly higher, reaching 60%. The probability of passing this mutation on to children is 50%.
The prognosis for cure is good provided the disease is diagnosed early. Patients with a positive genetic test result confirming a predisposition to the disease should have their moles and their development regularly monitored by a dermatologist or oncologist, who will assess them with a dermatoscopic examination and recommend preventive measures and further treatment.

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