Skin Cancer

Skin malignancies include basal cell carcinoma (BCC), squamous cell carcinoma (SCC), and melanoma. While most skin cancers are associated with UV exposure, approximately 10% have a hereditary genetic basis.

The GENOSOPHY® Skin Cancer Genetic Panel analyzes 19 genes, offering advanced genetic insights for accurate risk assessment and personalized management.

Conditions Covered by the Genetic Test

• Hereditary Melanoma
• Hereditary Basal Cell Carcinoma
• BAP1 Tumor Predisposition Syndrome – melanoma, kidney cancer, mesothelioma
• Li-Fraumeni Syndrome (TP53) – melanoma and multiple other cancers
• Cowden Syndrome (PTEN) – melanoma, thyroid and breast cancer
• Xeroderma Pigmentosum – extreme sensitivity to UV and skin cancer risk

Clinical Benefits

Diagnosis

• Detection of pathogenic genetic variants associated with increased risk for melanoma and other skin cancers
• Differentiation between sporadic and inherited forms of skin cancer

Prognosis

• Evaluation of personal and family risk for developing skin cancer
• Guidance for preventive monitoring and therapeutic interventions

Management

• Decision-making for enhanced surveillance or preventive interventions
• Guidance on therapeutic strategy, such as immunotherapy or targeted therapy (e.g. BRAF/MEK inhibitors) in patients with relevant mutations

Testing Procedure

The process is simple and includes:

1. Collection of a blood or saliva sample
2. Analysis of 19 genes associated with hereditary skin cancer and melanoma using Next Generation Sequencing (NGS)
3. Results delivered in approximately 5 weeks

Genetic counseling and interpretation of results is available from Professors at the Medical School of the National and Kapodistrian University of Athens (EKPA) as an optional service.

Genes Included in the Panel

BAP1, BRCA1*, BRCA2, CDK4, CDKN2A, DDB2, ERCC2, ERCC3, ERCC4, ERCC5, MITF, POT1, PTCH1, PTEN*, SUFU, TP53, WRN*, XPA, XPC

Note: In addition to coding regions (exons), the GENOSOPHY® test analyzes numerous non-coding regions, such as promoters and introns, which may provide clinically relevant information. The sensitivity for detecting single nucleotide variants (SNVs), indels, and copy number variants (CNVs) is >99%. Sensitivity may be slightly lower for genes marked with an asterisk (*).