genosmart DX Skin Cancer ^Germline-7

A gene panel focusing on the most frequent hereditary skin cancer alterations

Useful for

The DB-DNA-SkinCancer-Hereditary7 Panel is a targeted resequencing assay for the biomarker analysis of 7 genes with known relevance to hereditary melanomas and skin cancer formation and targeted therapeutic decisions.

Speciment type requirements

500 ng (min. 10 ng/ul) purified DNA from whole blood or 5 ml of whole blood in Lavender top (EDTA) tubes

Required information

DNA concentration, known mutations

Clinical interpretation

Hereditary cancer syndromes account for approximately 5-10% of all cancers. These cancers originate from the gastrointestinal tract, the endocrine and neuroendocrine systems or from different organs like the lung, kidneys, liver, pancreas, skin, and eyes. Most of the hereditary cancer syndromes are inherited in an autosomal dominant manner, and the penetrance is high. A subset of skin cancers is associated with various hereditary cancer syndromes. Familial atypical multiple mole melanoma syndrome is caused by mutations in the CDKN2A gene that may be present in up to 40% of the familial cases of melanoma. Mutations in the CDK4 gene also cause familial melanoma predisposition. Gorlin syndrome is associated with pathogenic mutations in the PTCH1 and SUFU genes and increases the risk of developing basal cell carcinomas. Other cancer susceptibility syndromes/genes that increase the risk of developing skin cancers, either as a primary or secondary disease, include BAP1-related tumour predisposition syndrome (BAP1), hereditary breast and ovarian cancer syndrome (BRCA1 and BRCA2), xeroderma pigmentosum (several genes), MITF-related melanoma and renal cell carcinoma predisposition syndrome (MITF), Li-Fraumeni syndrome (TP53), Cowden syndrome (PTEN), and Werner syndrome (WRN). Genetic testing is the most effective way to identify individuals with a genetic predisposition to developing cancer. This test enables personal cancer risk assessment and inherited genetic variants can be taken into account when planning the treatment and the follow-up of both unaffected and affected persons. In most of the cases, cancer mortality can be significantly reduced in high-risk individuals by regular surveillance and preventive strategies.

Cautions

Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete. We strongly recommend that patients undergoing predictive testing receive genetic counseling both prior to testing and after results are available. Technical Limitations: In some cases, DNA variants of undetermined significance may be identified. A negative (wild-type) result does not rule out the presence of a mutation or rearrangement (fusion) that may be present but below the limits of detection of this assay. Rare polymorphisms may be present that could lead to false-negative or false-positive results. This test does not detect the following: Complex inversions, Gene conversions, Balanced translocations, Repeat expansion disorders unless specifically mentioned, Non-coding variants deeper than ±20 base pairs from exon-intron boundary unless otherwise indicated. This test may not reliably detect the following: Low-level mosaicism in nuclear genes, Stretches of mononucleotide repeats, Indels larger than 50bp, Variants within pseudogene regions/duplicated segments