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

Abstract

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

• Li–Fraumeni syndrome
• TP53 pathogenic variant
• Breast cancer
• Hereditary cancer
• Genetic medicine
• Genetic testing