Skin cancer is the most common form of cancer in the world. The disease can be divided into three major types: melanoma, basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). Both BCC and SCC skin cancers are considered nonmelanoma skin cancers. The greatest environmental risk factor for developing skin cancers is exposure to ultraviolet radiation from the sun.
Most cases of melanoma are sporadic, but approximately 5 to 10% of all melanomas occur in families with hereditary predisposition. The familial melanoma syndrome is defined by the presence of two or more cases of melanoma in first- or second-degree relatives; or the presence of two or more melanomas in the same individual. CDKN2A is the major germline tumor suppressor gene associated with melanoma, accounting for 35% to 40% of all familial melanomas. Germline pathogenic variants in other genes, including CDK4, MITF, BRCA2 and BAP1 have also been found to be associated with melanoma.
Several hereditary syndromes are also associated with the development of nonmelanoma skin cancers. Basal cell nevus syndrome, also known as Gorlin syndrome, is associated with an increased risk of BCC and is caused by pathogenic variants in PTCH1 and PTCH2. Fanconi anemia, oculocutaneous albinism, and epidermolysis bullosa are syndromes associated with an increased risk of SCC. The autosomal recessive disease xeroderma pigmentosum is a group of related genetic disorders, clinically characterized by early development of skin tumours (BCC, SCC, and melanoma), mainly in sun-exposed skin.
Sarcomas are rare mesenchymal malignancies that demonstrate great clinical and biological heterogeneity, comprising more than 70 distinct histological subtypes. The low incidence and diversity of sarcomas in the general population makes heritable contribution to disease risk difficult to discern beyond highly penetrant Mendelian syndromes. The most common cancer predisposition syndromes associated with the development of sarcoma are Li-Fraumeni syndrome, hereditary retinoblastoma, familial adenomatous polyposis, neurofibromatosis type 1, familial GIST, Costello syndrome, Noonan syndrome, Uterine Leiomyomatosis and Renal Papillary Cell Carcinoma, Bloom Syndrome, Werner Syndrome, and Rothmund-Thompson Syndrome.
The recognition of skin cancers or sarcomas occurring in cancer predisposition syndromes is critical, with implications not only for the index patient but also potentially for family members, including the need for genetic counseling and sometimes particular types of surveillance.
As many of the oncologists are used to group and study the different cancer types in systems or specialities, the main objective of this product is to provide them with a more manageable diagnostic tool according to their field of knowledge.
The Igenomix Skin Cancer and Sarcoma Precision Panel is indicated in those cases in which the physician is suspecting of a hereditary cancer syndrome. It is designed to diagnose individuals with a personal or family history suggestive of inherited melanoma, nonmelanoma skin cancers, and sarcomas, providing important information that may impact cancer treatment as well as cancer risk assessment and management.
The clinical utility of this panel is:
- Identify pathogenic cancer susceptibility variants
- Maximize surveillance and preventive strategies for at risk individuals
- Provide options and strategies for targeted treatment, therapeutic planning, and clinical trials
- Perform risk assessment and genetic counselling for family members (cascade testing)
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