Closing in on a breast cancer gene on chromosome 17q

Am J Hum Genet. 1992 Jun;50(6):1235-42.


Linkage of early-onset familial breast and ovarian cancer to 11 markers on chromosome 17q12-q21 defines an 8-cM region which is very likely to include the disease gene BRCA 1. The most closely linked marker is D17S579, a highly informative CA repeat polymorphism. D17S579 has no recombinants with inherited breast or ovarian cancer in 79 informative meioses in the seven families with early-onset disease (lod score 9.12 at zero recombination). There is no evidence for linkage heterogeneity in the families with early-onset disease. The proportion of older-onset breast cancer attributable to BRCA 1 is not yet determinable, because both inherited and sporadic cases occur in older-onset families.

Publication types

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

MeSH terms

  • Base Sequence
  • Breast Neoplasms / genetics*
  • Chromosome Banding
  • Chromosomes, Human, Pair 17*
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Haplotypes
  • Humans
  • Male
  • Molecular Sequence Data
  • Oligodeoxyribonucleotides
  • Ovarian Neoplasms / genetics*
  • Pedigree
  • Polymorphism, Genetic
  • Repetitive Sequences, Nucleic Acid
  • Restriction Mapping


  • Genetic Markers
  • Oligodeoxyribonucleotides