Analysis of genome structural abnormalities of 3p21 in environment-associated cancers

2015 Fiscal Year Final Research Report

• Project/Area Number: 25460710
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Laboratory medicine
• Research Institution: Hyogo Medical University
• Principal Investigator: Emi Mitsuru 兵庫医科大学, 医学部, 非常勤講師 (90221118)
• Co-Investigator(Kenkyū-buntansha): TAMAOKI TOMOKO 兵庫医科大学, 医学部, 名誉教授 (10172868)
• Co-Investigator(Renkei-kenkyūsha): YOSHIKAWA YOSHIE 兵庫医科大学, 医学部, 助教 (10566673)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 悪性中皮腫 / 腎細胞がん / 3p21 / BAP1 / biallelic deletion

Outline of Final Research Achievements

In the present study, we sought to analyze environment-associated cancers, i.e., kidney cancer and malignant mesothelioma, for genome structural abnormalities with various advanced genome technologies, such as high-density CGH array, targeted NGS, MLPA, to search for copy number alterations in a chromosome region 3p21 that is suspected to be unstable with our previous knowledge. A simple contiguous large deletion of one allele (LOH) was observed as a characteristic event in kidney cancer. On the contrary, we detected multiple minute genome homozygous deletions in 20/33 tumors in malignant mesotheliomas. Those minute deletions were clustered in 47-48 Mb centered by SETD2 and 52-53 Mb region centered by BAP1. Those tumors presented with homozygous deletion of average of 4.7 genes. Therefore, unlike kidney cancer, key-events in mesothelioma development may associated with multiple minute copy number loss resulted by synchronous fragmentation of 3p21 and aberrant repair.

Free Research Field

ゲノム解析