What genetic mutation is associated with atypical naevus syndrome?

Atypical naevus syndrome, also known as dysplastic nevus syndrome, is a genetic condition that is predominantly associated with a mutation in the CDKN2A gene. This gene plays a crucial role in regulating the cell cycle by encoding proteins that act as tumor suppressors. When mutations occur in CDKN2A, the normal regulation of cell division can be disrupted, leading to an increased risk of developing melanoma and other skin cancers. Individuals with atypical naevus syndrome often have numerous atypical moles and a family history of melanoma, further underscoring the significance of the CDKN2A mutation in this syndrome.

In contrast, while mutations in the TP53 gene are associated with various cancers, including Li-Fraumeni syndrome, and mutations in the BRCA1 gene are primarily linked to breast and ovarian cancers, they are not the primary genetic drivers of atypical naevus syndrome. Furthermore, mutations in the PTEN gene are associated with conditions like Cowden syndrome and certain other neoplasms, but they do not have a direct correlation with atypical nevi or melanoma risk in the context of this syndrome. Thus, the CDKN2A mutation stands out as the key genetic alteration relevant to atypical na