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A novel germline mutation of TP53 with breast cancer diagnosed as Li–Fraumeni syndrome
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 pathogenic variants of TP53. LFS frequently develops in parall...
| Autores principales: | , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554102/ https://www.ncbi.nlm.nih.gov/pubmed/36219266 http://dx.doi.org/10.1186/s40792-022-01546-y |
| _version_ | 1784806618796392448 |
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| author | Kai, Masaya Kubo, Makoto Shikada, Sawako Hayashi, Saori Morisaki, Takafumi Yamada, Mai Takao, Yuka Shimazaki, Akiko Harada, Yurina Kaneshiro, Kazuhisa Mizuuchi, Yusuke Shindo, Koji Nakamura, Masafumi |
| author_facet | Kai, Masaya Kubo, Makoto Shikada, Sawako Hayashi, Saori Morisaki, Takafumi Yamada, Mai Takao, Yuka Shimazaki, Akiko Harada, Yurina Kaneshiro, Kazuhisa Mizuuchi, Yusuke Shindo, Koji Nakamura, Masafumi |
| author_sort | Kai, Masaya |
| collection | PubMed |
| description | 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 pathogenic variants of TP53. LFS frequently develops in parallel to tumors, including breast cancer. We describe a novel germline mutation in TP53 identified by performing a multi-gene panel assay in a breast cancer patient with bilateral breast cancer. |
| format | Online Article Text |
| id | pubmed-9554102 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Springer Berlin Heidelberg |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-95541022022-10-21 A novel germline mutation of TP53 with breast cancer diagnosed as Li–Fraumeni syndrome Kai, Masaya Kubo, Makoto Shikada, Sawako Hayashi, Saori Morisaki, Takafumi Yamada, Mai Takao, Yuka Shimazaki, Akiko Harada, Yurina Kaneshiro, Kazuhisa Mizuuchi, Yusuke Shindo, Koji Nakamura, Masafumi Surg Case Rep Case Report 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 pathogenic variants of TP53. LFS frequently develops in parallel to tumors, including breast cancer. We describe a novel germline mutation in TP53 identified by performing a multi-gene panel assay in a breast cancer patient with bilateral breast cancer. Springer Berlin Heidelberg 2022-10-11 /pmc/articles/PMC9554102/ /pubmed/36219266 http://dx.doi.org/10.1186/s40792-022-01546-y Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
| spellingShingle | Case Report Kai, Masaya Kubo, Makoto Shikada, Sawako Hayashi, Saori Morisaki, Takafumi Yamada, Mai Takao, Yuka Shimazaki, Akiko Harada, Yurina Kaneshiro, Kazuhisa Mizuuchi, Yusuke Shindo, Koji Nakamura, Masafumi A novel germline mutation of TP53 with breast cancer diagnosed as Li–Fraumeni syndrome |
| title | A novel germline mutation of TP53 with breast cancer diagnosed as Li–Fraumeni syndrome |
| title_full | A novel germline mutation of TP53 with breast cancer diagnosed as Li–Fraumeni syndrome |
| title_fullStr | A novel germline mutation of TP53 with breast cancer diagnosed as Li–Fraumeni syndrome |
| title_full_unstemmed | A novel germline mutation of TP53 with breast cancer diagnosed as Li–Fraumeni syndrome |
| title_short | A novel germline mutation of TP53 with breast cancer diagnosed as Li–Fraumeni syndrome |
| title_sort | novel germline mutation of tp53 with breast cancer diagnosed as li–fraumeni syndrome |
| topic | Case Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554102/ https://www.ncbi.nlm.nih.gov/pubmed/36219266 http://dx.doi.org/10.1186/s40792-022-01546-y |
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