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Characteristics of Li‐Fraumeni syndrome in Japan: A review study by the special committee of JSHT

1 May 2021

Abstract excerpt

Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome, and the majority of patients with LFS have been identified with germline variants in the p53 tumor suppressor (TP53) gene. In the past three decades, considerable case reports of TP53 germline variants have been published in Japan. To the best of our knowledge, there have been no large-scale studies of Japanese patients with LFS. In this...

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PMID: 33932062
DOI: 10.1111/cas.14919

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