Abstract
Skin cancer can be divided into three categories: basal cell carcinoma, squamous cell carcinoma, and melanoma. Because of the heterogeneity of the skin cancer phenotypes as well as the unknown exact correlation to genotypes, genetic testing is not offered on routine bases for all types of skin cancers. Several approaches are being used by clinicians, to determine the possible genetic components, which may be involved after complete skin examination by a dermatologist as a screening tool for skin cancer and family history determination. Molecular genetics of melanoma can be both diagnostically and therapeutically useful. When candidate’s genes are known, according to the skin cancer phenotypes or the syndrome, Sanger sequencing and gene copy number variations (MLPA or RT-PCR) are applied. More recently, the use of comparative genomic hybridization (CGH), analysis of copy number in known miRNA genes, and exome sequencing, followed by screening of targeted genes in melanoma, helps to elucidate the genetic background of several skin cancers and the appropriate therapeutic approach. Referral of individuals affected or at risk for skin cancers to a genetic counselor or hereditary cancer center that routinely tests skin cancers patients is recommended.
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Bercovich, D., Kedar, I. (2016). Hereditary Skin Cancer. In: Leonard, D. (eds) Molecular Pathology in Clinical Practice. Springer, Cham. https://doi.org/10.1007/978-3-319-19674-9_27
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DOI: https://doi.org/10.1007/978-3-319-19674-9_27
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