Histopathology of BRCA1- and BRCA2-associated breast cancer

Crit Rev Oncol Hematol. 2006 Jul;59(1):27-39. doi: 10.1016/j.critrevonc.2006.01.006. Epub 2006 Mar 10.

Abstract

Hereditary breast carcinomas that are attributable to BRCA1/2 mutations have their own morphological and immunohistochemical characteristics. BRCA1-associated carcinomas are poorly differentiated infiltrating ductal carcinomas that frequently show morphological features of typical or atypical medullary carcinoma. BRCA2-associated breast carcinomas tend to be of higher grade than sporadic age-matched controls. BRCA1tumors have been found to be more frequently estrogen receptor- and progesterone receptor-negative, and p53-positive than are age-matched controls, whereas these differences are not usually found in BRCA2-associated tumors. In addition, BRCA1- and BRCA2-associated breast carcinomas show a low frequency of HER2 expression. Most BRCA1 breast carcinomas are characterized by the expression of basal (myoepithelial) markers, such as cytokeratin 5/6 and or P-cadherin. These features could be used to distinguish patients who are likely to carry a BRCA1 or BRCA2 germline mutation, thus indicating which gene should be screened for first in families with a high incidence of breast and ovarian cancer.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Breast Neoplasms / genetics
  • Breast Neoplasms / pathology*
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Carrier Screening
  • Humans
  • Mutation
  • Nucleic Acid Hybridization
  • Oligonucleotide Array Sequence Analysis