Zobrazeno 1 - 6
of 6
pro vyhledávání: '"TP53 pathogenic variant"'
Autor:
Minami Une, Ryo Fujiwara, Arisa Ueki, Ryosuke Oki, Tetsuya Urasaki, Kentaro Inamura, Shunji Takahashi, Junji Yonese, Takeshi Yuasa
Publikováno v:
IJU Case Reports, Vol 6, Iss 5, Pp 286-289 (2023)
Introduction Li–Fraumeni syndrome, an autosomal dominant cancer predisposition syndrome caused by a pathogenic variant of TP53, a tumor suppressor gene, leads to a high risk from early childhood of developing various types of cancers. Here, we repo
Externí odkaz:
https://doaj.org/article/19f307c5fcb141499aca3bf099a9e54d
Autor:
Masaya Kai, Makoto Kubo, Sawako Shikada, Saori Hayashi, Takafumi Morisaki, Mai Yamada, Yuka Takao, Akiko Shimazaki, Yurina Harada, Kazuhisa Kaneshiro, Yusuke Mizuuchi, Koji Shindo, Masafumi Nakamura
Publikováno v:
Surgical Case Reports, Vol 8, Iss 1, Pp 1-5 (2022)
Abstract TP53 is a tumor suppressor gene and, when dysfunctional, it is known to be involved in the development of cancers. Li–Fraumeni syndrome (LFS) is a hereditary tumor with autosomal dominant inheritance that develops in people with germline p
Externí odkaz:
https://doaj.org/article/211328f03ac8456fa89f1601d750a838
Autor:
Kate Packwood, Guy Martland, Matthew Sommerlad, Emily Shaw, Karwan Moutasim, Gareth Thomas, Adrian C Bateman, Louise Jones, Linda Haywood, D Gareth Evans, Jillian M Birch, Ohud A Alsalmi, Alex Henderson, Nicola Poplawski, Diana M Eccles
Publikováno v:
The Journal of Pathology: Clinical Research, Vol 5, Iss 3, Pp 189-198 (2019)
Abstract Germline TP53 pathogenic variants are rare but associated with a high risk of cancer; they are often identified in the context of clinically diagnosed Li–Fraumeni syndrome predisposing to a range of young onset cancers including sarcomas a
Externí odkaz:
https://doaj.org/article/7e0ee9491e514ebdb52e7a414a9ae5e5
Akademický článek
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Akademický článek
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Autor:
Kai M; Department of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan., Kubo M; Department of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan. kubo.makoto.804@m.kyushu-u.ac.jp.; Department of Clinical Genetics and Medicine, Kyushu University Hospital, Fukuoka, Japan. kubo.makoto.804@m.kyushu-u.ac.jp., Shikada S; Department of Clinical Genetics and Medicine, Kyushu University Hospital, Fukuoka, Japan., Hayashi S; Department of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.; Department of Clinical Genetics and Medicine, Kyushu University Hospital, Fukuoka, Japan., Morisaki T; Department of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan., Yamada M; Department of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan., Takao Y; Department of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan., Shimazaki A; Department of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan., Harada Y; Department of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan., Kaneshiro K; Department of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan., Mizuuchi Y; Department of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.; Department of Clinical Genetics and Medicine, Kyushu University Hospital, Fukuoka, Japan., Shindo K; Department of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan., Nakamura M; Department of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Publikováno v:
Surgical case reports [Surg Case Rep] 2022 Oct 11; Vol. 8 (1), pp. 197. Date of Electronic Publication: 2022 Oct 11.