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BMC Cancer
Published in: BMC Cancer 1/2012

Open Access 01-12-2012 | Case report

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

Authors: Karin Kast, Teresa M Neuhann, Heike Görgens, Kerstin Becker, Katja Keller, Barbara Klink, Daniela Aust, Wolfgang Distler, Evelin Schröck, Hans K Schackert

Published in: BMC Cancer | Issue 1/2012

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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.
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Metadata
Title
Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer
Authors
Karin Kast
Teresa M Neuhann
Heike Görgens
Kerstin Becker
Katja Keller
Barbara Klink
Daniela Aust
Wolfgang Distler
Evelin Schröck
Hans K Schackert
Publication date
01-12-2012
Publisher
BioMed Central
Published in
BMC Cancer / Issue 1/2012
Electronic ISSN: 1471-2407
DOI
https://doi.org/10.1186/1471-2407-12-531

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