2015 Fiscal Year Final Research Report
Germline mutations causing familial lung cancer
| Project/Area Number |
25462180
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Respiratory surgery
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| Research Institution | Nagasaki University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
NAGAYASU Takeshi 長崎大学, 医歯薬学総合研究科(医学系), 教授 (80284686)
TSUCHIYA Tomoshi 長崎大学, 医歯薬学総合研究科(医学系), 准教授 (30437884)
MATSUMOTO Keitaro 長崎大学, 医歯薬学総合研究科(医学系), 講師 (80404268)
KUBO Toru 長崎大学, 熱帯医学研究所, 客員研究員 (50444873)
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Keywords | 家族性肺癌 |
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| Outline of Final Research Achievements |
To identify the gene(s) that cause lung cancer in this pedigree, we extracted DNA from the peripheral blood of three individuals and from the blood of one cancer-free control family member and performed whole-exome sequencing. We identified 41 alterations in 40 genes in all affected family members but not in the unaffected member. These were considered candidate mutations for familial lung cancer. Next, to identify somatic mutations and/orinherited alterations in these 40 genes among sporadic lung cancers, we performed exon target enrichment sequencing using 192 samples from sporadic lung cancer patients. We detected somatic ‘candidate’ mutations in multiple sporadic lung cancer samples; MAST1, CENPE, CACNB2 and LCT were the most promising candidate genes. In addition, the MAST1 gene was located in a putative cancer-linked locus in the pedigree. Our data suggest that several genes act as oncogenic drivers in this family, and that MAST1 is most likely to cause lung cancer.
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| Free Research Field |
呼吸器外科
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