The pathology of familial breast cancer: Immunohistochemistry and molecular analysis

Breast Cancer Res. 1999;1(1):36-40. doi: 10.1186/bcr11. Epub 1999 Oct 27.

Abstract

Extensive studies of BRCA1- and BRCA2-associated breast tumours have been carried out in the few years since the identification of these familial breast cancer predisposing genes. The morphological studies suggest that BRCA1 tumours differ from BRCA2 tumours and from sporadic breast cancers. Recent progress in immunohistochemistry and molecular biology techniques has enabled in-depth investigation of molecular pathology of these tumours. Studies to date have investigated issues such as steroid hormone receptor expression, mutation status of tumour suppressor genes TP53 and c-erbB2, and expression profiles of cell cycle proteins p21, p27 and cyclin D1. Despite relative paucity of data, strong evidence of unique biological characteristics of BRCA1-associated breast cancer is accumulating. BRCA1-associated tumours appear to show an increased frequency of TP53 mutations, frequent p53 protein stabilization and absence of imunoreactivity for steroid hormone receptors. Further studies of larger number of samples of both BRCA1- and BRCA2-associated tumours are necessary to clarify and confirm these observations.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms / chemistry
  • Breast Neoplasms / genetics
  • Breast Neoplasms / pathology*
  • Cathepsin D / metabolism
  • Cell Cycle Proteins*
  • Cyclin D1 / analysis
  • Cyclin-Dependent Kinase Inhibitor p21
  • Cyclin-Dependent Kinase Inhibitor p27
  • Cyclins / analysis
  • Female
  • Genes, erbB-2
  • Genes, p53
  • Humans
  • Immunohistochemistry
  • Microtubule-Associated Proteins / analysis
  • Receptors, Estrogen / analysis
  • Tumor Suppressor Proteins*

Substances

  • CDKN1A protein, human
  • Cell Cycle Proteins
  • Cyclin-Dependent Kinase Inhibitor p21
  • Cyclins
  • Microtubule-Associated Proteins
  • Receptors, Estrogen
  • Tumor Suppressor Proteins
  • Cyclin D1
  • Cyclin-Dependent Kinase Inhibitor p27
  • Cathepsin D