@article{oai:air.repo.nii.ac.jp:00005972,
 author = {Takai, Erina and Maeda, Daichi and Li, Zhuo and Kudo-Asabe, Yukitsugu and Totoki, Yasushi and Nakamura, Hiromi and Nakamura, Akiko and Nakamura, Rumi and Kirikawa, Misato and Ito, Yukinobu and Yoshida, Makoto and Inoue, Takamitsu and Habuchi, Tomonori and Ikoma, Shohei and Katoh, Hiroto and Kato, Mamoru and Shibata, Tatsuhiro and Ishikawa, Shumpei and Yachida, Shinichi and Goto, Akiteru},
 journal = {SCIENTIFIC REPORTS},
 month = {},
 note = {Recent genomic studies on cancer tissues obtained during rapid autopsy have provided insights into the clonal evolution and heterogeneity of cancer. However, post-mortem blood has not been subjected to genetic analyses in relation to cancer. We first confirmed that substantial quantities of cell-free DNA were present in the post-mortem plasma of 12 autopsy cases. Then, we focused on a pilot case of prostate cancer with multiple metastases for genetic analyses. Whole-exome sequencing of post-mortem plasma-derived cell-free DNA and eight frozen metastatic cancer tissues collected during rapid autopsy was performed, and compared their mutational statuses. The post-mortem plasma cell-free DNA was successfully sequenced and 344 mutations were identified. Of these, 160 were detected in at least one of the metastases. Further, 99% of the mutations shared by all metastases were present in the plasma. Sanger sequencing of 30 additional formalin-fixed metastases enabled us to map the clones harboring mutations initially detected only in the plasma. In conclusion, post-mortem blood, which is usually disposed of during conventional autopsies, can provide valuable data if sequenced in detail, especially regarding cancer heterogeneity. Furthermore, post-mortem plasma cell-free DNA sequencing (liquid autopsy) can be a novel platform for cancer research and a tool for genomic pathology.},
 title = {Post-mortem Plasma Cell-Free DNA Sequencing: Proof-of-Concept Study for the Liquid Autopsy},
 volume = {10},
 year = {2020}
}