Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers.

ABSTRACT:

Objectives

Variants in the neurofibromatosis type 1 (NF1) gene are not only responsible for the NF1 cancer predisposition syndrome, but also frequently identified in cancers arising in the general population. While germline variants are pathogenic, it is not known whether those that arise in cancer (somatic variants) are passenger or driver variants. To address this question, we sought to define the landscape of NF1 variants in sporadic cancers.

Methods

NF1 variants in sporadic cancers were compiled using data curated on the c-Bio database and compared with published germline variants and Genome Aggregation Database data. Pathogenicity was determined using Polyphen and Sorting Intolerant From Tolerant prediction tools.

Results

The spectrum of NF1

SUBMITTER: Bewley AF 

PROVIDER: S-EPMC10331586 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature