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Article

Genotype-Phenotype Correlations of Li-Fraumeni Syndrome in Japan Children's Cancer Group LFS20 Study Cohort.

Cancer science - 1 Mar 2026

Yamazaki Fumito, Nakano Yoshiko, Sanada Masashi, Kurahashi Hiroki, Miyai Shunsuke, Ueki Arisa, Watanabe Yuko, Hasegawa Daisuke, Karakawa Shuhei, Ozaki Toshifumi, Hirasawa Akira, Saito Akiko M, Inoue Eisuke, Kato Motohiro, Hattori Hiroyoshi

Abstract excerpt

Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by germline pathogenic variants in the TP53 gene. With the increasing use of multi-gene panel testing, TP53 variants have been identified in individuals who do not meet established TP53 testing criteria, such as the Chompret criteria. The term "attenuated LFS" has been proposed for some of these cases, particularly those with adult-onset...

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Identifiers

PMID: 41457833
DOI: 10.1111/cas.70302
PMCID: PMC12951092

Genes

TP53

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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Genotype-Phenotype Correlations of Li-Fraumeni Syndrome in Japan Children's Cancer Group LFS20 Study Cohort.PMID 41457833Read ↗

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