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Case Reports
. 2012 Nov 20:12:531.
doi: 10.1186/1471-2407-12-531.

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

Karin Kast  1 , Teresa M Neuhann, Heike Görgens, Kerstin Becker, Katja Keller, Barbara Klink, Daniela Aust, Wolfgang Distler, Evelin Schröck, Hans K Schackert
Affiliations
Case Reports

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

Karin Kast et al. BMC Cancer. .

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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Figures

Figure 1
Figure 1
Pedigree. The black arrow indicates the index patient and the black dot the unaffected female carrier of the familial BRCA1 mutation. Documentation was not available for the “gastric cancer” reported in I:1. Abbreviations: AO- age of onset, mut. ‐ mutation, pos. ‐ positive, neg. ‐ negative.
See this image and copyright information in PMC

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