Is the controversy on breast cancer as part of the Lynch-related tumor spectrum still open?

Fam Cancer. 2012 Dec;11(4):681-3. doi: 10.1007/s10689-012-9562-2.


Several studies report an increased risk of breast/pancreatic cancer in MMR (DNA mismatch repair) mutation carriers that has significant consequences on standard cancer screening in such population. The French national network involved in Lynch syndrome molecular characterization registered 15 families with an identified MMR germline mutation and the occurrence of breast/pancreatic adenocarcinoma in mutations carriers. Corresponding tumors were investigated and the MMR function was shown to be intact. This observation tends to exclude breast/pancreatic cancers from Lynch tumor spectrum defined by a complete loss of the MMR function in tumor cells and to support the hypothesis of another causal factor.

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adaptor Proteins, Signal Transducing / metabolism
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / etiology*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / complications*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • DNA Mismatch Repair / genetics*
  • Female
  • Germ-Line Mutation / genetics
  • Humans
  • Immunoenzyme Techniques
  • Microsatellite Instability
  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein / genetics
  • MutS Homolog 2 Protein / metabolism
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism
  • Pancreatic Neoplasms / diagnosis
  • Pancreatic Neoplasms / etiology*
  • Prognosis


  • Adaptor Proteins, Signal Transducing
  • MLH1 protein, human
  • Nuclear Proteins
  • MSH2 protein, human
  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein