CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition

Although CDKN2A is well-known as a susceptibility gene for melanoma and pancreatic cancer, germline variants have also been anecdotally associated with a broader range of neoplasms including neural system tumors, head and neck squamous cell carcinomas, breast carcinomas, as well as sarcomas. The CDKN2A gene encodes for two distinct tumor suppressor proteins, p16 INK4A and p14 ARF , however, the independent association of germline alterations...