Possible linkage of the estrogen receptor gene to breast cancer in a family with late-onset disease

Am J Hum Genet. 1991 Jun;48(6):1065-8.


The estrogen-receptor locus is a candidate gene for inherited susceptibility to human breast cancer, particularly among families with later onset, primarily estrogen-receptor-positive tumors. For one extended family with eight patients with late-onset disease, one estrogen-receptor haplotype was consistently coinherited with breast cancer, yielding a +1.85 lod score for linkage at zero recombination. Simulation of this pedigree assuming independent inheritance of breast cancer and estrogen-receptor genotypes led to a lod score greater than or equal to 1.85 only once in 2,000 replicates. We suggest testing linkage of this gene to breast cancer in other families with late-onset disease.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Age Factors
  • Breast Neoplasms / genetics*
  • DNA / genetics
  • Disease Susceptibility
  • Genetic Linkage*
  • Haplotypes
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Polymorphism, Genetic
  • Receptors, Estrogen / genetics*


  • Receptors, Estrogen
  • DNA