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Article

CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources.

Journal of medical genetics - 27 Nov 2023

Fortuno Cristina, Richardson Marcy, Pesaran Tina, Yussuf Amal, Horton Carolyn, James Paul A, Spurdle Amanda B

Abstract excerpt

The gene-disease relationship for CHEK2 remains listed as 'Li-Fraumeni syndrome 2' in public resources such as OMIM and MONDO, despite published evidence to the contrary, causing frustration among Li-Fraumeni syndrome (LFS) clinical experts. Here, we compared personal cancer characteristics of 2095 CHEK2 and 248 TP53 pathogenic variant carriers undergoing multigene panel testing at Ambry Genetics against 15 135...

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Identifiers

PMID: 37536919
DOI: 10.1136/jmg-2023-109464

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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