The genomic mutation spectrums of breast fibroadenomas in Chinese population by whole exome sequencing analysis.

ABSTRACT: Fibroadenomas (FAs) are the most common fibroepithelial lesions and the most common benign tumors of the breast in women of reproductive age. Although MED12 mutations, an overwhelming majority of all mutations, and some other gene mutations have been found in FAs, the genomic landscapes of FAs are still not completely clear and the genomic mutation spectrums of FAs in Chinese population remains unknown. Here, by performing whole exome sequencing of 12 FAs and the corresponding normal breast tissues in Chinese Han population, we observed the somatic and germline landscapes of genetic alterations. We identified 16 recurrently mutated genes with 37 nonsynonymous or frameshift somatic mutations and 27 recurrent somatic copy number variants (CNVs). In these mutated genes, MED12 was the most com

SUBMITTER: Xie SN 

PROVIDER: S-EPMC6536971 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature