Whole Exome Sequencing of Lacrimal Gland Adenoid Cystic Carcinoma.

ABSTRACT:

Purpose

To identify genomic mutations in lacrimal gland adenoid cystic carcinoma (LGACC) samples from patients.

Methods

Genomic DNA was extracted from LGACC specimens. Whole exome sequencing (exome-seq) was conducted to screen for mutations. Capillary sequencing was performed to verify mutations in genes shared by multiple samples. Luciferase assays were used to evaluate functional consequences of NOTCH1 mutations.

Results

The mutation profile of LGACC was complicated. The most frequently mutated gene observed (28.6%) was bromodomain PHD finger transcription factor (BPTF). No mutation was identified in common cancer genes such as TP53, KRAS, and BRAF. However, mutations predicted to be functionally severe were accumulated in the Notch signaling pathway including NOTCH

SUBMITTER: Sant DW 

PROVIDER: S-EPMC5562266 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature