The gene-disease relationship for 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 and 248 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 and pathogenic variant carriers, with no evidence of being associated with any of the -related core LFS cancers. These findings emphasise the need to replace 'Li-Fraumeni syndrome 2' as the -associated disease name, thereby limiting potential confusion.
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| http://dx.doi.org/10.1136/jmg-2023-109464 | DOI Listing |
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