What genetic mutation is associated with atypical naevus syndrome?

Atypical naevus syndrome, also known as familial atypical multiple mole melanoma (FAMMM) syndrome, is primarily associated with mutations in the CDKN2A gene. CDKN2A encodes for proteins involved in the regulation of the cell cycle, specifically inhibiting cyclin-dependent kinase 4 (CDK4) and thereby controlling cell proliferation. Mutations in this gene lead to a predisposition to melanoma and the development of atypical nevi, which are moles that feature unusual characteristics, increasing the risk of malignant transformation.

Individuals with atypical naevus syndrome often present with multiple atypical moles that differ in size, shape, and color from typical moles, and they have a family history of melanoma. The identification of a mutation in CDKN2A is a significant finding in patients with this syndrome, informing risk assessment and potential screening protocols for melanoma.

The other genetic mutations, while associated with different syndromes and cancers, do not specifically correlate with atypical naevus syndrome. For instance, TP53 mutations are linked to Li-Fraumeni syndrome, BRCA1 mutations are primarily associated with breast and ovarian cancer susceptibility, and PTEN mutations relate to Cowden syndrome. These conditions do not demonstrate