Clinicopathologic analysis of BRCA1- or BRCA2-associated hereditary breast carcinoma in Japanese women

Cancer. 1999 May 15;85(10):2200-5.


Background: The purpose of this investigation was to elucidate the clinicopathologic characteristics of BRCA1- and BRCA2-associated hereditary breast carcinomas (HBCs) in Japanese women.

Methods: Various clinicopathologic characteristics of HBCs arising in patients with BRCA1 or BRCA2 germline mutations were compared with those of the control group (sporadic breast carcinomas).

Results: The mean age at the time of diagnosis of BRCA1-associated HBCs and that of BRCA2-associated HBCs (44 years for both) were significantly younger than that of the control group (54 years) and the incidence of bilateral tumors was significantly higher in the BRCA1-associated HBCs (32%) and BRCA2-associated HBCs (29%) than in the control group (6%). BRCA1-associated HBCs showed a tendency (P = 0.06) toward an increase in solid-tubular type tumors and a significant increase in histologic grade 3 tumors (P < 0.01) and lymphatic invasion positive tumors (P < 0.05) compared with the control group. BRCA1-associated HBCs were significantly more estrogen receptor negative (P < 0.01), c-erb B-2 negative (P < 0.05), and p53 positive (P < 0.01), and they also showed a significant increase in MIB-1 staining grades (P < 0.01) as well as microvessel counts (P < 0.05) compared with the control group. However, there was no significant difference in these parameters between the BRCA2-associated HBCs and the control group.

Conclusions: BRCA1-associated HBCs in Japanese women have biologically aggressive phenotypes. However, BRCA2-associated HBCs are without distinctive clinicopathologic features compared with sporadic breast carcinomas.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • BRCA1 Protein / genetics*
  • BRCA2 Protein
  • Breast Neoplasms / ethnology*
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Carcinoma / ethnology*
  • Carcinoma / genetics*
  • Carcinoma / pathology
  • Female
  • Genes, BRCA1 / genetics*
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Japan / ethnology
  • Middle Aged
  • Neoplasm Proteins / genetics*
  • Pedigree
  • Phenotype
  • Prognosis
  • Receptors, Estrogen / analysis
  • Transcription Factors / genetics*


  • BRCA1 Protein
  • BRCA2 Protein
  • Neoplasm Proteins
  • Receptors, Estrogen
  • Transcription Factors