Investigation of germline mutations in familial gastric cancer patients using whole exome sequencing

2015 Fiscal Year Final Research Report

• Project/Area Number: 26861076
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Digestive surgery
• Research Institution: Osaka University
• Principal Investigator: Wada Noriko 大阪大学, 医学部附属病院, 医員 (40645090)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 家族性胃癌 / エキソーム解析

Outline of Final Research Achievements

We have performed whole exome sequencing using peripheral blood of a gastric cancer patient, her mother (susceptible of harboring genetic factor) and her father (non-susceptible) in a gastric cancer family in a previous study. We have detected 117 germline mutations which were the same between the patients and her mother.
In this study, we selected five germline mutations among the 117 mutations based on other studies or the incidence in sporadic gastric cancers. Furthermore, two of the five germline mutations revealed to exist in another gastric cancer patient in the family. Although we performed the similar analysis in another gastric cancer family, we could not detect any suspicious germline mutations which were the same between two gastric cancer patients. Thus, we concluded that the two germline mutations found in one gastric cancer family could be one of the causes that occurred gastric cancer.

Free Research Field

消化器外科学