Letter to the Editor

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 GrandvalAffiliated withCentre de Recherche en Cancérologie de Marseille, INSERMGastroenterology Department, Hôpital La Timone
  • , Emmanuelle Barouk-SimonetAffiliated withGenetics Department, Institut Bergonié
  • , Myriam BronnerAffiliated withGenetics Department, CHU Brabois
  • , Marie-Pierre BuisineAffiliated withBiochemistry and Molecular Biology Department, University Hospital
  • , Jessica MorettaAffiliated withDépartement d’Anticipation et de Suivi des Cancers, Institut Paoli-Calmettes
  • , Julie TinatAffiliated withDepartment of Genetics, University Hospital
  • , Sylviane OlschwangAffiliated withCentre de Recherche en Cancérologie de Marseille, INSERMGastroenterology Department, Hôpital La TimoneDepartment of Gastroenterology, Hôpital Ambroise ParéMedical Genetics Department, AP-HM La Timone Enfants Email author 

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

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