TRRAP AND GRIN2A MUTATIONS AND USE THEREOF FOR THE DIAGNOSIS AND TREATMENT OF MELANOMA

摘要

Described herein is the identification of 68 genes with an elevated frequency of somatic mutations in melanoma. Nine genes were identified that exhibited recurring mutations in melanoma. The TRRAP gene was mutated at nucleotide 2165 (C2165T) in six different melanoma tumor samples. In addition, 16 genes were identified that were highly mutated in melanoma samples. The most highly mutated gene identified was GRIN2A, which was mutated in 34% of melanoma tumor samples. The study disclosed herein identified 34 different nonsynonymous somatic mutations in GRIN2A among 36 melanoma tumor samples. Provided is a method of diagnosing a subject as having melanoma or susceptible to developing melanoma by detecting one or more mutations in the TRRAP or GRIN2A genes. Further provided is a method of selecting an appropriate therapy for a subject diagnosed with melanoma by detecting the presence or absence of a mutation in TRRAP or GRIN2A.