Four human breast cancer cell lines with biallelic inactivating alpha-catenin gene mutations

Breast Cancer Res Treat. 2010 Jul;122(1):125-33. doi: 10.1007/s10549-009-0545-4. Epub 2009 Sep 18.

Abstract

Mutations of E-cadherin have been identified in half of lobular breast cancers and diffuse-type gastric cancers, two tumor subtypes with remarkably similar pathological appearances including small rounded cells with scant cytoplasm and a diffuse growth pattern. A causal role for E-cadherin gene mutations in the lobular breast cancer phenotype was recently demonstrated in E-cadherin knock-out mice. These observations suggested that another gene in the E-cadherin tumor suppressor pathway might be mutated in lobular breast cancers with wild-type E-cadherin genes. Here, we identified E-cadherin gene mutations exclusively in human breast cancer cell lines that grow with a rounded cell morphology. Using expression analyses and gene mutation analyses, we have identified four biallelic inactivating alpha-catenin mutations among 55 human breast cancer cell lines. All four alpha-catenin mutations predicted premature termination of the encoded proteins, and concordantly, none of the four mutant cell lines expressed alpha-catenin proteins. Importantly, three of the alpha-catenin mutant cell lines had the rounded cell morphology and all 14 cell lines with the rounded cell morphology had mutations of either E-cadherin or alpha-catenin. As anticipated, loss of alpha-catenin protein expression was associated with the lobular subtype in primary breast cancers. Together, our observations suggest that alpha-catenin may be a new tumor suppressor gene that operates in the E-cadherin tumor suppressor pathway.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Breast Neoplasms / genetics
  • Breast Neoplasms / pathology*
  • Cadherins / genetics
  • Cadherins / physiology
  • Carcinoma / genetics
  • Carcinoma / pathology*
  • Carcinoma, Lobular / genetics
  • Carcinoma, Lobular / pathology
  • Cell Adhesion / genetics
  • Cell Line, Tumor / metabolism
  • Cell Shape / genetics
  • Codon, Nonsense*
  • DNA Methylation
  • Female
  • Gene Expression Profiling
  • Gene Expression Regulation, Neoplastic
  • Genes, Tumor Suppressor*
  • Humans
  • Neoplasm Proteins / biosynthesis
  • Neoplasm Proteins / deficiency
  • Neoplasm Proteins / genetics*
  • Oligonucleotide Array Sequence Analysis
  • alpha Catenin / biosynthesis
  • alpha Catenin / deficiency
  • alpha Catenin / genetics*

Substances

  • Cadherins
  • Codon, Nonsense
  • Neoplasm Proteins
  • alpha Catenin