High-resolution integrated map encompassing the breast cancer loss of heterozygosity region on human chromosome 16q22.1

Genomics. 2000 Dec 15;70(3):273-85. doi: 10.1006/geno.2000.6389.

Abstract

Loss of heterozygosity (LOH) on the long arm of human chromosome 16 is a common genetic alteration observed in both invasive ductal and invasive lobular breast carcinomas. We have generated a high-resolution integrated map encompassing the smallest region of LOH overlap within chromosome 16q22.1 (SRO2). Southern hybridization experiments using more than 140 probes resulted in the assembly of 152 bacterial large-insert clones into a 2.8-Mb contig covering SRO2. The structure of the contig was verified by long-range mapping using total human genomic DNA, and the contig orientation was determined by fluorescence in situ hybridization. A total of 68 transcripts have been identified in the map. One of the genes residing within SRO2 is the E-cadherin gene, CDH1, which has previously been shown to be mutated in lobular breast carcinomas, resulting in loss of E-cadherin expression. In most cases of ductal carcinoma, which is the major mammary cancer type, E-cadherin is normally expressed, suggesting that other genes within 16q22.1 are involved in the development of this tumor subtype. The high-resolution map presented in this study provides a valuable resource for identification of tumor suppressor genes expected to be involved in the etiology of breast carcinomas.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Neoplasms / genetics*
  • Chromosomes, Human, Pair 16*
  • Genes, Tumor Suppressor
  • Genetic Markers
  • Humans
  • Loss of Heterozygosity*
  • Microsatellite Repeats / genetics
  • Molecular Sequence Data
  • Physical Chromosome Mapping*
  • Polymerase Chain Reaction
  • Restriction Mapping

Substances

  • Genetic Markers

Associated data

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