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

Autor: Kast K, Neuhann T, [...], Becker K, et al.
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Veröffentlichungsdatum: 20.11.2012

 

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.

 

BMC Cancer. 2012;12:531.

http://doi.org/10.1186/1471-2407-12-531

Es wurden keine Änderungen des Artikels vorgenommen.

http://creativecommons.org/licenses/by/2.0

 

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