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Mutation Profiling of Key Cancer Genes in Primary Breast Cancers and Their Distant Metastases.


ABSTRACT: Although the repertoire of somatic genetic alterations of primary breast cancers has been extensively catalogued, the genetic differences between primary and metastatic tumors have been less studied. In this study, we compared somatic mutations and gene copy number alterations of primary breast cancers and their matched metastases from patients with estrogen receptor (ER)-negative disease. DNA samples obtained from formalin-fixed paraffin-embedded ER-negative/HER2-positive (n = 9) and ER-, progesterone receptor (PR-), HER2-negative (n = 8) primary breast cancers and from paired brain or skin metastases and normal tissue were subjected to a hybridization capture-based massively parallel sequencing assay, targeting 341 key cancer genes. A large subset of nonsynonymous somatic m

SUBMITTER: Schrijver WAME 

PROVIDER: S-EPMC6355142 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature