학술논문
Prevalence of pathogenic variants in cancer‐predisposing genes in second cancer after childhood solid cancers
Document Type
article
Author
Masanori Yoshida; Kazuhiko Nakabayashi; Wentao Yang; Aiko Sato‐Otsubo; Shin‐ichi Tsujimoto; Hiroko Ogata‐Kawata; Tomoko Kawai; Keisuke Ishiwata; Mika Sakamoto; Kohji Okamura; Kaoru Yoshida; Ryota Shirai; Tomoo Osumi; Chikako Kiyotani; Yoko Shioda; Keita Terashima; Sae Ishimaru; Yuki Yuza; Masatoshi Takagi; Yuki Arakawa; Toshihiko Imamura; Daisuke Hasegawa; Akiko Inoue; Takako Yoshioka; Shuichi Ito; Daisuke Tomizawa; Katsuyoshi Koh; Kimikazu Matsumoto; Nobutaka Kiyokawa; Seishi Ogawa; Atsushi Manabe; Akira Niwa; Kenichiro Hata; Jun J. Yang; Motohiro Kato
Source
Cancer Medicine, Vol 12, Iss 10, Pp 11264-11273 (2023)
Subject
Language
English
ISSN
2045-7634
Abstract
Abstract Background Second malignant neoplasms (SMNs) are one of the most severe late complications after pediatric cancer treatment. However, the effect of genetic variation on SMNs remains unclear. In this study, we revealed germline genetic factors that contribute to the development of SMNs after treatment of pediatric solid tumors. Methods We performed whole‐exome sequencing in 14 pediatric patients with SMNs, including three brain tumors. Results Our analysis revealed that five of 14 (35.7%) patients had pathogenic germline variants in cancer‐predisposing genes (CPGs), which was significantly higher than in the control cohort (p