Loss of heterozygosity at chromosome 6q in preinvasive and early invasive breast carcinomas

Br J Cancer. 1997;75(9):1324-9. doi: 10.1038/bjc.1997.224.


We have used polymerase chain reaction (PCR) analysis to study the incidence of allelic imbalance at four polymorphic microsatellite markers on chromosome 6q25.1-27, three dinucleotide repeats and one trinucleotide repeat, for microdissected tumour foci from a group of 75 'early' breast carcinomas. The tumours comprised 16 preinvasive cases of ductal carcinoma in situ (DCIS) and 59 mammographically detected early invasive carcinomas. Loss of heterozygosity (LOH) was detected at all four loci and in all types and grade of disease. The frequency of LOH ranged from 23% to 50% depending on the marker studied. The highest frequency of LOH was observed at the D6S186 locus for the cases of DCIS and at the oestrogen receptor locus for the invasive carcinomas. These data suggest that the inactivation of tumour-suppressor genes within this region on chromosome 6q is important for the development of these early lesions.

MeSH terms

  • Adenocarcinoma / genetics*
  • Adenocarcinoma / metabolism
  • Adenocarcinoma / pathology
  • Biomarkers, Tumor / metabolism
  • Breast / pathology
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / metabolism
  • Breast Neoplasms / pathology
  • Carcinoma, Ductal, Breast / genetics*
  • Carcinoma, Ductal, Breast / metabolism
  • Carcinoma, Ductal, Breast / pathology
  • Carcinoma, Lobular / genetics*
  • Carcinoma, Lobular / metabolism
  • Carcinoma, Lobular / pathology
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 6 / genetics*
  • DNA, Neoplasm / analysis
  • Female
  • Genes, Tumor Suppressor
  • Heterozygote
  • Humans
  • Immunohistochemistry
  • Mammography
  • Polymerase Chain Reaction
  • Receptors, Estrogen / metabolism
  • Receptors, Progesterone / metabolism


  • Biomarkers, Tumor
  • DNA, Neoplasm
  • Receptors, Estrogen
  • Receptors, Progesterone