Analysis of germline gene mutation in gynecologic cancer patients with next generation sequencer.

• Project/Area Number: 26861342
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Obstetrics and gynecology
• Research Institution: Showa University
• Principal Investigator: Iitsuka Chiaki 昭和大学, 医学部, 助教 (70465128)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000); Fiscal Year 2016: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000); Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
• Keywords: 遺伝性腫瘍 / 生殖細胞遺伝子変異 / 子宮体癌 / 卵巣癌 / MSI不安定性検査 / 家族性腫瘍 / Lynch症候群 / 次世代シーケンサー / MSI検査 / 腫瘍関連遺伝子の生殖細胞変異 / 腫瘍遺伝子 / 遺伝性腫瘍症候群

Outline of Final Research Achievements

Hereditary gynecologic cancers include hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome, which develop endometrial cancer and ovarian cancer. We collected 138 blood DNA samples from the two cancer patients.
We selected 4 cases strongly suspected of hereditary tumor from the background from 138 cases, and searched for mutations in the tumor-associated gene region using the next generation sequencer. We found Variant of Uncertain Significance (VUS) of BRCA2 gene only in one case.
Since hereditary tumor is as small as 10% or less of all malignant tumors, we decided to select 61 cases with hereditary background and conduct microsatellite instability (MSI) examination on them. We are planning to examine gene mutations in tumor-associated genes using next generation sequencers against those positive for MSI tests.