Germline truncating-mutations in <it>BRCA1</it> and <it>MSH6</it> in a patient with early onset endometrial cancer

• Main Authors: Kast Karin, Neuhann Teresa M, Görgens Heike, Becker Kerstin, Keller Katja, Klink Barbara, Aust Daniela, Distler Wolfgang, Schröck Evelin, Schackert Hans K
• Format: Article
• Language: English
• Published: BMC 2012-11-01
• Series: BMC Cancer
• Online Access: http://www.biomedcentral.com/1471-2407/12/531

<p>Abstract</p> <p>Background</p> <p>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 <it>BRCA1</it> or <it>BRCA2</it> and in mismatch repair (MMR) genes <it>MLH1, MSH2, MSH6</it> or <it>PMS2</it> are very rare<it>.</it></p> <p>Case presentation</p> <p>We identified germline mutations in <it>BRCA1</it> and in <it>MSH6</it> in a patient with increased risk for HBOC diagnosed with endometrial cancer at the age of 46 years.</p> <p>Conclusions</p> <p>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.</p>