Genes responsible for familial breast cancer

Pathol Res Pract. 1996 Jul;192(7):684-93. doi: 10.1016/S0344-0338(96)80090-2.


A family history for breast cancer appears to be a major risk factor for breast cancer. It has been estimated that 5% of all breast cancers are hereditary. In the last five years much progress has been made in the identification of genes responsible for breast cancer. Much interest is focused on the BRCA-1 gene, which is associated with early onset breast and ovarian cancers. Heterogeneity within and across families in the pattern of cancer susceptibility has suggested that different susceptibility alleles may exist. The BRCA-1 gene has been cloned but the function of its product has not been determined. BRCA-1 mutations seem not to be involved in sporadic breast cancer. A second breast cancer susceptibility gene, BRCA-2, has been localized to chromosome 13q12-q13 but has not been identified as yet. Loss of heterozygosity of 13q is observed in 25% of sporadic breast tumors, which indicates that BRCA-2 might be a tumor suppressor gene. BRCA-2 confers only a low ovarian cancer risk. The TP53 gene has also been associated with breast cancer but to a much more limited extent than BRCA-1. Germline TP53 mutations have been found in patients with familial breast cancer. Other genes that have been associated with breast cancer risk are the androgen receptor (AR) gene and the ataxia teleangiectasia (AT) gene. The importance of the AR gene appears to be limited but the AT gene might be of considerable importance. It is to be expected that additional breast cancer susceptibility genes will be identified in the near future.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms / genetics*
  • Disease Susceptibility
  • Female
  • Genes, BRCA1*
  • Genes, p53*
  • Humans