INTRODUCTION
It is well known ultraviolet (UV) light and DNA damage can lead to skin cancer. This occurs when epidermal keratinocytes are exposed to UV radiation, forming dimers and oxygen radicals that alter the structure of nucleotides. When these defects are not repaired, DNA replication is altered leading to mutations in p53 and PTCH tumor suppressor gene1 and ultimately tumor development.2 Major DNA repair defects can give rise to cancer-prone phenotypes. This phenomenon is illustrated in xeroderma pigmentosum, a disease with mutated repair genes that predispose patients to extreme UV sensitivity and 2,000-fold risk of NMSC and other malignancies.3 However, aside from rare syndromes, the variants in DNA repair genes for the general population and the association with cancer risk is not yet well understood. Recent advances in genomics and technology have linked genetic polymorphisms to skin properties by examining single nucleotide polymorphisms (SNPs). Such knowledge could assist in predicting a patient’s potential for manifesting signs of cutaneous aging and malignancy and for establishing cancer risk stratification of both melanoma and NMSCs based on an individual’s genetics.4The incidence of NMSC is rising and is a health concern especially in fair-skinned populations.5 NMSC is the most common cancer and has been strongly linked to UV exposure, immunosuppression, radiation, and arsenic exposure.6 The two major types of NMSC are basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). Although these are usually localized, there is an increased risk for development of other non-cutaneous malignancies such as salivary gland, lip, mouth and pharynx, and non-Hodgkin lymphoma.7 It is not known why this association exists. Because of this positive correlation for multiple malignancies, it is possible the precursor NMSC could be a marker of phenotypes that have a predisposition for cancer in general. Several commercial proprietary kits (such as ORIG3N, Boston, MA or Blueprintgenetics, San Francisco, CA) are currently on the market, which advertise the ability to provide a patient with a skin cancer risk profile. These tests are based on research findings that reported individual SNPs and genes related to skin cancer risk. However, to our knowledge, there is no current study in the literature that examines the prevalence of an extended set of identified SNPs within the skin cancer
