Familial Cancer

, Volume 11, Issue 4, pp 681–683

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

  • Philippe Grandval
  • Emmanuelle Barouk-Simonet
  • Myriam Bronner
  • Marie-Pierre Buisine
  • Jessica Moretta
  • Julie Tinat
  • Sylviane Olschwang
Letter to the Editor

DOI: 10.1007/s10689-012-9562-2

Cite this article as:
Grandval, P., Barouk-Simonet, E., Bronner, M. et al. Familial Cancer (2012) 11: 681. doi:10.1007/s10689-012-9562-2

Abstract

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.

Keywords

Lynch syndrome Cancer risk Mutation carrier MSI type Screening guidelines 

Copyright information

© Springer Science+Business Media B.V. 2012

Authors and Affiliations

  • Philippe Grandval
    • 1
    • 2
  • Emmanuelle Barouk-Simonet
    • 3
  • Myriam Bronner
    • 4
  • Marie-Pierre Buisine
    • 5
  • Jessica Moretta
    • 6
  • Julie Tinat
    • 7
  • Sylviane Olschwang
    • 1
    • 2
    • 8
    • 9
  1. 1.Centre de Recherche en Cancérologie de MarseilleINSERMMarseilleFrance
  2. 2.Gastroenterology DepartmentHôpital La TimoneMarseilleFrance
  3. 3.Genetics DepartmentInstitut BergoniéBordeauxFrance
  4. 4.Genetics DepartmentCHU BraboisNancyFrance
  5. 5.Biochemistry and Molecular Biology DepartmentUniversity HospitalLilleFrance
  6. 6.Département d’Anticipation et de Suivi des CancersInstitut Paoli-CalmettesMarseilleFrance
  7. 7.Department of GeneticsUniversity HospitalRouenFrance
  8. 8.Department of GastroenterologyHôpital Ambroise ParéMarseilleFrance
  9. 9.Medical Genetics DepartmentAP-HM La Timone EnfantsMarseilleFrance

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