Special Feature Current issues and perspectives on breast cancer diagnosis

Breast Cancer

, Volume 16, Issue 3, pp 186-201

First online:

Gene and chromosomal alterations in sporadic breast cancer: correlation with histopathological features and implications for genesis and progression

  • Hitoshi TsudaAffiliated withPathology Section, Clinical Laboratory Division, National Cancer Center HospitalDepartment of Basic Pathology, National Defense Medical College Email author 

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A number of gene and chromosome alterations have been identified in sporadic breast carcinomas, and their clinical implications have been investigated. Changes in proto-oncogenes and tumor-suppressor genes, e.g., HER2, p53, and E-cadherin, and various numerical and structural chromosome alterations are strongly correlated with histological type and grade in breast carcinomas. The amount of information on these alterations has been dramatically increased by the introduction of high-throughput molecular cytogenetic approaches. In the near future, breast cancers will be classified into specific groups according to their profile of gene and chromosome alterations, allowing more effective personalized therapies targeting the associated molecular pathways.


der(1;16)/der(16)t(1;16) HER2 Intrinsic subtype Loss of heterozygosity p53