Population-wide Screening for Germline Variants of Hereditary Cancer Genes in 12K Unselected Japanese Colorectal Cancers and 27K Controls
Masashi Fujita, Xiaoxi Liu, Yusuke Iwasaki, Chikashi C. Terao, Sadaaki Takata, Chihiro Inai, Tomomi Aoi, Kazuhiro Maejima, Makoto Hirata, Yoshinori Murakami, Yoichiro Kamatani, Michiaki Kubo, Kiwamu Akagi, Koichi Matsuda, Hidewaki Nakagawa, Yukihide Momozawa
The paper screens 12,503 Japanese CRC patients and 23,705 controls for germline variants in 27 cancer genes, finding 3.3% of patients have pathogenic variants linked to CRC risk.
bioRxiv · Mar 15, 2020 · PreprintGenetics