Genetic and molecular heterogeneity of breast cancer cells

Robert Callahan, Craig Cropp, Giorgio R. Merlo, Francesca Diella, Tiziana Venesio, Rosette Lidereau, Alberto P M Cappa, Daniel S. Lisicia

Research output: Contribution to journalArticlepeer-review


We have undertaken a systematic study of primary human breast tumor DNAa to identify and characterize frequently occurring somatic mutations. Loss of heterozygosity (LOH) was found on chromosomes 1p (37%), 1q (20%), 3p (30%), 7 (41%), 13q (30%), 17p (49%) and 18q (34%) in our tumor DNA panel. Specific subsets of tumors could be defined based on the particular collection of mutations they contained. One goal of these studies has been to determine whether there is a significant association between specific mutations and clinical parameters of the disease. We have found that LOH on chromosome 17p in tumor DNAs is associated with breast tumors having a high proliferative index and that LOH on chromosome 7 is associated with patients having a poor prognosis. Our analysis of chromosome 17 suggests that there may be as many as four tumor suppressor genes affected in primary human breast tumors.

Original languageEnglish
Pages (from-to)63-73
Number of pages11
JournalClinica Chimica Acta
Issue number1
Publication statusPublished - Jul 30 1993


  • Breast cancer
  • Mutations P53 gene
  • NM23 gene

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry


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