TERT, BRAF, and NRAS Mutational Heterogeneity between Paired Primary and Metastatic Melanoma Tumors.

ABSTRACT: Mutational heterogeneity can contribute to therapeutic resistance in solid cancers. In melanoma, the frequencies of intertumoral and intratumoral heterogeneity are controversial. We examined mutational heterogeneity within individual patients with melanoma using multiplatform analysis of commonly mutated driver and nonpassenger genes. We analyzed paired primary and metastatic tumors from 60 patients and multiple metastatic tumors from 39 patients whose primary tumors were unavailable (n = 271 tumors). We used a combination of multiplex SNaPshot assays, Sanger sequencing, mutation-specific PCR, or droplet digital PCR to determine the presence of BRAF^V600, NRAS^Q61, TERT^-124C>T, and TERT^-146C>T mutations. Mutations were detected in BRAF (39%), NRAS

SUBMITTER: Chang GA 

PROVIDER: S-EPMC7387168 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature