Analyses of mutations in cancer-related genes in skin tumors for the development of personalized medicine

2015 Fiscal Year Final Research Report

• Project/Area Number: 26860865
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Dermatology
• Research Institution: Hirosaki University
• Principal Investigator: Rokunohe Daiki 弘前大学, 医学(系)研究科(研究院), 助教 (50436036)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 皮膚腫瘍 / 遺伝子変異 / 皮膚癌

Outline of Final Research Achievements

We used the SNaPshot method in order to efficiently detect the mutation hot spots in the tumor related genes in various skin tumors. The SNaPshot enabled us to analyze multiple genes simultaneously. We detected KRAS mutations in 2 out of 51 non melanoma skin cancer samples. Then, we found 7 mutations in 7 out of 31 melanoma samples (31%) in the cancer-related genes analyzed (BRAF, HRAS and KRAS). Furthermore, we did a mutation analysis for beta-catenin gene CTNNB1 in a hybrid cyst in which a pilomatricoma and an epidermoid cyst coexisted, and detected a missense mutation at the phosphorylation site of beta-catenin. In this study, we obtained useful data about mutations in cancer-related genes in various skin tumors and it will be helpful for developing new drugs in the future.

Free Research Field

皮膚科学