2016 Fiscal Year Final Research Report
Analysis of germline gene mutation in gynecologic cancer patients with next generation sequencer.
| Project/Area Number |
26861342
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Obstetrics and gynecology
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| Research Institution | Showa University |
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Principal Investigator |
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| 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 |
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| 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.
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| Free Research Field |
婦人科腫瘍
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