Skin cancer

What is skin cancer?

Skin cancers are malignant tumors in which there is an uncontrolled proliferation of any one of the many skin cell types, whereas the normal process of regeneration of skin involves replication of the cells in a controlled fashion. Each subtype of skin cancer has unique characteristics.

The most common forms of skin cancer are:

• Basal cell carcinoma (BCC)
• Squamous cell carcinoma (SCC), including keratoacanthoma

Why Consider Genetic Testing for Skin Cancer?

Next-Generation Sequencing (NGS) genetic testing provides valuable insights into skin cancer risk, early detection, and personalized treatment. It analyzes multiple genes simultaneously to identify mutations linked to melanoma and other skin cancers.

Key Benefits:

• Assess Personal Risk – Identifies genetic mutations (e.g., CDKN2A, BAP1) that increase susceptibility to melanoma, especially for those with a family history of skin cancer.
• Early Detection & Prevention – High-risk individuals can take preventive measures, including frequent screenings, lifestyle changes, and proactive monitoring.
• Personalized Treatment – For diagnosed patients, NGS can guide targeted therapy, identifying mutations that respond to BRAF/MEK inhibitors or immunotherapy.
• Identify Inherited Cancer Syndromes – Detects genetic conditions like FAMMM Syndrome or BAP1-Tumor Predisposition Syndrome, helping assess broader cancer risks.
• Family Health Insights – If a mutation is found, family members can be tested to determine their risk and take preventive actions.

NGS testing is ideal for those with a strong family history, multiple melanomas, or early-onset skin cancer. By uncovering genetic risks, it enables early intervention and precision medicine, improving prevention and treatment outcomes.

What does a positive genetic test mean?

A genetic test cannot tell whether you will develop cancer. But knowing the existing risks can be helpful:

• A genetic test can tell you about more than your melanoma risk. People who carry a mutation on a gene known as CDKN2A have a higher risk of developing melanoma, cancer of the pancreas, or a tumor in the central nervous system.
• A mutation on the gene called BAP1 means a higher risk of getting melanoma, melanoma of the eye, or cancers like mesothelioma and kidney cancer.

A positive test for melanoma can also help your dermatologist monitor you for signs of skin cancer. Patients with a high risk may need more frequent skin cancer screenings. Total body photography can show changes to your moles, which can help find a melanoma in its earliest stage.