Whole-exome analysis of metaplastic breast carcinomas with extensive osseous differentiation.

ABSTRACT:

Aims

Metaplastic breast carcinoma (MBC) is a rare type of triple-negative breast cancer that shows vast histological and genetic heterogeneity. Osseous differentiation can be found in different subtypes of MBC. Whether MBCs with osseous differentiation are underpinned by specific genetic alterations has yet to be defined. The aim of this study was to investigate the repertoire of somatic mutations and copy number alterations (CNAs) in three MBCs with extensive osseous differentiation.

Methods and results

Tumour and normal DNA samples from three MBCs with extensive osseous differentiation were subjected to whole-exome sequencing. Somatic mutations, CNAs and mutational signatures were determined by use of a validated bioinformatics pipeline. Our analyses revealed clonal TP53 h

SUBMITTER: Beca F 

PROVIDER: S-EPMC7518240 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature