Whole-exome sequencing and RNA sequencing analyses of acinic cell carcinomas of the breast.

ABSTRACT:

Aims

Acinic cell carcinoma (ACC) of the breast is a rare histological form of triple-negative breast cancer (TNBC). Despite its unique histology, targeted sequencing analysis has failed to identify recurrent genetic alterations other than those found in common forms of TNBC. Here we subjected three breast ACCs to whole-exome and RNA sequencing to determine whether they would harbour a pathognomonic genetic alteration.

Methods and results

DNA and RNA samples from three breast ACCs were subjected to whole-exome sequencing and RNA-sequencing, respectively. Somatic mutations, copy number alterations, mutational signatures and fusion genes were determined with state-of-the-art bioinformatics methods. Our analyses revealed TP53 hotspot mutations associated with loss of heterozygos

SUBMITTER: Beca F 

PROVIDER: S-EPMC6878125 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature