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医学セミナー・第18回分子遺伝疫学セミナー

2018/11/01

TItle: Whole-genome sequencing and mutational landscape in cancer
genomes

Speaker: Dr. Akihiro Fujimoto (Associate Professor, Department of Drug
Discovery Medicine, Graduate School of Medicine, Kyoto University)
     藤本明洋博士、京都大学大学院医学研究科創薬医学講座 特定准教授

Date: November 1, 2018 (Thurs)

Time: 17:00-18:15

Venue: Faculty of Medicine Building, Room 483 (医学系学系棟483)GooglrMap版へ
アクセス:「筑波大学筑波キャンパスへの交通アクセス」をご覧ください。
利用停留所(関東鉄道バス):筑波大学中央行き又は筑波大学循環バス「追越学生宿舎前

This seminar is one of the seminars for the subject “Seminar in Medical
Sciences” in Doctoral Programs in Biomedical Sciences and Clinical
Sciences. The seminar will be given in English, but questions in
Japanese are also welcome.

This seminar will NOT be video-recorded. Be sure to attend if interested.

Abstract
Next generation sequencing technologies enable us to analyze the
mutational landscape in cancer genomes. To identify somatic mutation in
liver cancer, we constructed an analysis pipeline for mutation
detection. Using the method, we analyzed whole genome sequencing of
liver cancer genomes. Our comprehensive analysis identified point
mutations, structural variations (STVs), and virus integrations, in
noncoding and coding regions. We discovered recurrently mutated coding
and noncoding regions, promoters, and regulatory regions. STV analysis
found a significant association with replication timing and identified
known (CDKN2A, and TERT) and new (ASH1L, and MACROD2) cancer-related
genes.
We next focused on mutations in microsatellite regions. Microsatellites
are repeats of 1-6bp units and have been used to detect cancers with
mismatch repair deficiency. To detect somatic indels in microsatellite
regions, we analyzed ~9 million microsatellites in 2,717 cancer samples
across 21 tissue types. Our analysis identified samples with higher
microsatellite mutation rate (MSI; microsatellite instability). We found
20 highly-mutated microsatellites which can be used to detect MSI
cancers with high sensitivity. Analysis of highly mutated microsatellite
found that replication timing and DNA shape were significantly
associated with mutation rates. Our analysis reveals possible causes of
mutations, as well as provides a useful marker set for MSI detection.

【contact】Naoyuki Tsuchiya, Molecular and Genetic Epidemiology
Laboratory
tsuchiya#@#md.tsukuba.ac.jp(#@#を 「@」 に置き換えてください)

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