CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources
Journal Title
Journal of Medical Genetics
Publication Type
Research article
Abstract
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 individuals with no known pathogenic variant. Our results from a within-cohort logistic regression approach highlight obvious differences between clinical presentation of TP53 and CHEK2 pathogenic variant carriers, with no evidence of CHEK2 being associated with any of the TP53-related core LFS cancers. These findings emphasise the need to replace 'Li-Fraumeni syndrome 2' as the CHEK2-associated disease name, thereby limiting potential confusion.
Publisher
BMJ
Keywords
Genetic Predisposition to Disease; Genetic Variation; Genetics; Germline Mutation; Human Genetics
Department(s)
Familial Cancer Centre
PubMed ID
37536919
Terms of Use/Rights Notice
Refer to copyright notice on published article.


Creation Date: 2023-10-19 04:37:31
Last Modified: 2024-09-05 06:55:55

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