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

Abstract excerpt

Abstract AlthoughCDKN2Ais 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. TheCDKN2Agene encodes for two distinct tumor suppressor proteins, p16INK4Aand p14ARF, however, the independent...

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