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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Case Report
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
Descripción
Sumario: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.

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