Article
Outcome of colorectal cancer in Diamond-Blackfan syndrome with a ribosomal protein S19 mutation.
Clinical journal of gastroenterology - 1 Dec 2020
Kimura Kazuya, Shimazu Kazuhiro, Toki Tsutomu, Misawa Momoko, Fukuda Koji, Yoshida Taichi, Taguchi Daiki, Fukuda Sho, Iijima Katunori, Takahashi Naoto, Ito Etsuro, Nanjyo Hiroshi, Shibata Hiroyuki
Abstract excerpt
Diamond-Blackfan anemia is an autosomal dominant syndrome, characterized by anemia and a predisposition for malignancies. Ribosomal proteins are responsible for this syndrome, and the incidence of colorectal cancer in patients with this syndrome is higher than the general population. This patient's Diamond-Blackfan anemia was caused by a novel ribosomal protein S19 gene mutation, and he received chemotherapy for...
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