A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome

J Med Genet. 2004 Jul;41(7):567-72. doi: 10.1136/jmg.2003.012997.
No abstract available

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adenocarcinoma, Sebaceous / genetics*
  • Adult
  • Aged
  • Aged, 80 and over
  • Carrier Proteins
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • DNA-Binding Proteins / genetics*
  • Female
  • Genetic Testing / methods
  • Genotype
  • Germ-Line Mutation / genetics
  • Humans
  • Male
  • Middle Aged
  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein
  • Mutation / genetics*
  • Neoplasm Proteins / genetics
  • Nuclear Proteins
  • Phenotype
  • Proto-Oncogene Proteins / genetics*
  • Sebaceous Gland Neoplasms / genetics*
  • Syndrome

Substances

  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • DNA-Binding Proteins
  • MLH1 protein, human
  • Neoplasm Proteins
  • Nuclear Proteins
  • Proto-Oncogene Proteins
  • MSH2 protein, human
  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein