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Background  Hereditary Breast and Ovarian Cancer Syndrome (HBOCS) and Hereditary Non-Polyposis Colorectal Cancer Syndrome (HNPCC, Lynch Syndrome) are two tumor predisposition syndromes responsible for the majority of hereditary breast and colorectal cancers. Carriers of both germline mutations in breast cancer genes  BRCA1  or  BRCA2  and in mismatch repair (MMR) genes  MLH1, MSH2, MSH6  or  PMS2  are very rare .Case presentation  We identified germline mutations in  BRCA1  and in  MSH6  in a patient with increased risk for HBOC diagnosed with endometrial cancer at the age of 46 years.    Conclusions  Although carriers of mutations in both MMR and BRCA genes are rare in Caucasian populations and anamnestical and histopathological findings may guide clinicians to identify these families, both syndromes can only be diagnosed through a complete gene analysis of the respective genes.

Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer