CDKN2A-Related Tumor Predisposition Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A tumor predisposition syndrome inherited in an autosomal dominant manner and caused by germline pathogenic variants in the CDKN2A gene. It is characterized by the presence of multiple cutaneous dysplastic nevi and is associated with an increased risk of developing multiple neoplasms including cutaneous melanoma, nerve sheath tumor, astrocytoma, pancreatic carcinoma, and oropharyngeal squamous cell carcinoma.

**Synonyms:** - FAMM Syndrome - FAMMM syndrome - Familial Atypical Mole Melanoma Syndrome - Familial atypical multiple mole melanoma (FAMMM) - Hereditary Atypical Mole Melanoma Syndrome - familial atypical multiple mole melanoma syndrome