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

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

doi:10.1186/s40792-022-01546-y

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

Surg Case Rep. 2022 Oct 11;8(1):197. doi: 10.1186/s40792-022-01546-y.

Authors

Masaya Kai^#¹, Makoto Kubo^#^{2

3}, Sawako Shikada⁴, Saori Hayashi^{1

4}, Takafumi Morisaki¹, Mai Yamada¹, Yuka Takao¹, Akiko Shimazaki¹, Yurina Harada¹, Kazuhisa Kaneshiro¹, Yusuke Mizuuchi^{1

4}, Koji Shindo¹, Masafumi Nakamura¹

Affiliations

¹ Department of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
² 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.
³ Department of Clinical Genetics and Medicine, Kyushu University Hospital, Fukuoka, Japan. kubo.makoto.804@m.kyushu-u.ac.jp.
⁴ Department of Clinical Genetics and Medicine, Kyushu University Hospital, Fukuoka, Japan.

^# Contributed equally.

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 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.

Keywords: Breast cancer; Genetic medicine; Genetic testing; Hereditary cancer; Li–Fraumeni syndrome; Multi-gene panel assay; TP53 pathogenic variant.