Tehran University of Medical Sciences Basic & Clinical Cancer Research 2228-6527 8 1&2 2016 08 22 36 41 EN Maryam Abdollahzadeh Cancer Research Center, Cancer Institute, Tehran University of Medical Sciences, Tehran, Iran Maryam Mobasheri Medical Genetics department, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran AND Cancer Research Center, Cancer Institute, Tehran University of Medical Sciences, Tehran, Iran Homayoun Moslehi Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran Mohammad Modarressi Medical Genetics department, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran 2016 06 20 Background: Basal Cell Carcinoma (BCC) is the most common human malignant neoplasm which is more frequent in white people. PTCH and p53 are two major tumor suppressor genes which play important roles in pathogenesis of BCC. PTCH is a twelve-pass transmembrane protein. It is an essential component of the sonic hedgehog signaling pathway that plays as a receiving receptor for members of the Hedgehog family. PTCH signaling pathway is actively involved in regulation of main processes of growth differentiation, stem cell growth and etiology of cancer. There are three single nucleotide polymorphisms (SNPs) including rs17852533, rs200902126 and rs3811553 in the PTCH1 gene; however, their effects on PTCH protein have remained unknown. This study was aimed to analyse the possible association between these SNPs and risk of BCC. Methods: One hundred fifty-three BCC patients in conjunction with 175 healthy controls were selected and matched with each other in terms of age and gender. DNA obtained from each of the groups was subjected to analysis through polymerization chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: All the studied samples from both the groups were determined to be homozygous for the wild type genotype of the three studied SNPs. There was no significant association between those genetic variants and risk of BCC. Conclusion: Our findings revealed no effect of rs147067171, rs78708791 and rs201125580 variants of the PTCH1 gene on BCC. This indicates that rs147067171, rs78708791 and rs201125580 are not considered as polymorphism among the studied subjects. Perhaps they are mutations associated with other diseases that carry PTCH1 defect such as esophageal squamous cell carcinoma, trichoepitheliomas, Holoprosencephaly and Medullablastoma. https://bccr.tums.ac.ir/index.php/bccrj/article/view/194 https://bccr.tums.ac.ir/index.php/bccrj/article/download/194/01