TY - JOUR ID - 89254 TI - Investigations of a Possible Role of SNPs in KAI1 Gene on Its Down-Regulation in Breast Cancer JO - Asian Pacific Journal of Cancer Prevention JA - APJCP LA - en SN - 1513-7368 AU - Kussaibi, Haitham AU - Alkharsah, Khaled R AD - Department of Pathology, College of Medicine, Imam Abdulrahman Bin Faisal University (IAU), Dammam, Saudi Arabia. AD - Department of Microbiology, College of Medicine, Imam Abdulrahman Bin Faisal University (IAU), Dammam, Saudi Arabia. Y1 - 2020 PY - 2020 VL - 21 IS - 9 SP - 2549 EP - 2553 KW - KAI1 down-regulation KW - KAI1 gene loss of function KW - SNPs in KAI1 gene KW - KAI1 expression by immunohistochemistry DO - 10.31557/APJCP.2020.21.9.2549 N2 - Objective: KAI1 (CD82) is a metastasis suppressor gene known to be down-regulated in carcinomas of breast, prostate and many other organs. The mechanism of KAI1 down-regulation is complex and not well understood. Here, we investigate the role of 8 SNPs (not previously studied) in KAI1 gene that could influence its expression in tumor tissue samples of breast cancer patients from the Eastern province of Saudi Arabia. Methods: Single nucleotide polymorphisms (SNPs) in KAI1 gene were selected from the NCBI website (dbSNP) and were then filtered for those SNPs causing stop codon mutations (rs139889503 and rs150533529) or nonsynonymous mutation in the 5’-UTR (rs11541048, rs77359459, rs115500759, rs182579675, rs200238062, and rs372733853). SNPs genotyping was performed using TaqMan SNP Genotyping Assay and the results were correlated with KAI1 protein expression profile by immunohistochemistry (IHC) on formalin-fixed paraffin-embedded (FFPE) samples of breast cancer and control none-neoplastic tissues. Results: KAI1 expression by IHC was observed in all none-neoplastic breast tissue samples and only in 35% out of the 59 breast cancer tissue samples. None of the samples was homozygous for the stop codon allele A in the SNP rs139889503 or allele T in the SNP rs150533529. The SNPs in the 5-UTR, rs11541048, rs115500759, and rs182579675, were only present in the homozygous state for the G and C alleles respectively in both cancer and control samples. The other SNPs in the 5’-UTR (rs77359459, rs200238062, and rs372733853) had no significant difference in the allele distribution between KAI1 expressing or none-expressing tissue samples. Conclusion: Our findings showed no significant effect of the studied SNPs on down-regulation of KAI1 expression.   UR - https://journal.waocp.org/article_89254.html L1 - https://journal.waocp.org/article_89254_3c32144fb08857bc4e2e706cec81f13b.pdf ER -