A novel germline mutation of TP53 with breast cancer diagnosed as Li–Fraumeni syndrome

A novel germline mutation of TP53 with breast cancer diagnosed as Li–Fraumeni syndrome

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 pathogenic variants of TP53. LFS frequently develops...

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Main Authors: 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
Format: Article
Language:English
Published: Japan Surgical Society 2022-10-01
Series:Surgical Case Reports
Subjects:
Li–Fraumeni syndrome
TP53 pathogenic variant
Breast cancer
Hereditary cancer
Genetic medicine
Genetic testing
Online Access:https://doi.org/10.1186/s40792-022-01546-y
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https://doi.org/10.1186/s40792-022-01546-y

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