Open Access Case report

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

Karin Kast1*, Teresa M Neuhann23, Heike Görgens4, Kerstin Becker2, Katja Keller1, Barbara Klink2, Daniela Aust5, Wolfgang Distler1, Evelin Schröck2 and Hans K Schackert4

Author Affiliations

1 Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

2 Institute for Clinical Genetics, Technische Universität Dresden, Dresden, Germany

3 Medical Genetic Center, Munich, Germany

4 Department of Surgical Research, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

5 Institute of Pathology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

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BMC Cancer 2012, 12:531  doi:10.1186/1471-2407-12-531

Published: 20 November 2012

Abstract

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.