The gene for hereditary breast-ovarian cancer, BRCA1, maps distal to EDH17B2 in chromosome region 17q12-q21

Hum Mol Genet. 1994 Sep;3(9):1679-82. doi: 10.1093/hmg/3.9.1679.

Abstract

A gene for hereditary breast and ovarian cancer, BRCA1, has been mapped to chromosome 17q12-q21. This gene is responsible for cancer susceptibility in the majority of families with multiple cases of ovarian cancer and early-onset breast cancer. We report linkage results of a family with 10 cases of breast cancer and a single case of ovarian cancer. A recombinant event in this family places BRCA1 distal (telomeric) to the locus EDH17B2, which codes for the enzyme estradiol 17 beta-dehydrogenase II. This recombinant is based on the appearance of breast cancer in a 45 year old woman. Under our genetic model, we estimate the probability that this woman carries a BRCA1 mutation to be 94%. These data further reduce the region of assignment of BRCA1 on chromosome 17q12-q21 and should expedite positional cloning of this important gene.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Breast Neoplasms / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17*
  • Estradiol Dehydrogenases / genetics
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Middle Aged
  • Oncogenes*
  • Ovarian Neoplasms / genetics*
  • Pedigree
  • Recombination, Genetic

Substances

  • Estradiol Dehydrogenases