A novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia

Kananazawa, Yoshikazu
Yamada, Takeshi
Yamaguchi, Tatsuro
Saito, Yoshinobu
Kakinuma, Daisuke
Masuda, Yuka
Ando, Fumihiko
Ohashi, Ryuji
Eguchi, Hidetaka
Okazaki, Yasushi
Ishida, Hideyuki
Yoshida, Hiroshi

Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, Tokyo, Japan
Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, Tokyo, Japan
Department of Genetic Medicine, Nippon Medical School, Tokyo, Japan
Department of Genetic Medicine, Nippon Medical School, Tokyo, Japan
Department of Clinical Genetics, Tokyo Metropolitan Cancer and Infectious Diseases Center, Bunkyo-ku, Tokyo, Japan
Department of Pulmonary Medicine and Oncology, Nippon Medical School, Tokyo, Japan
Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, Tokyo, Japan
Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, Tokyo, Japan
Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, Tokyo, Japan
Department of Diagnostic Pathology, Nippon Medical School Hospital, Tokyo, Japan
Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Bunkyo-ku, Tokyo, Japan
Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Bunkyo-ku, Tokyo, Japan
Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Kawagoe, Japan
Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, Tokyo, Japan

For reprints and all correspondence: Yoshikazu Kanazawa, Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, 1-1-5, Sendagi, Bunkyo-ku, Tokyo 113-8603, Japan. E-mail: [email protected]

Received September 22, 2022

Accepted November 16, 2022

This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model)

Japanese Journal of Clinical Oncology 53(3):p 275-279, March 2023. | DOI: 10.1093/jjco/hyac189