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

BMC Cancer

Case Report

Katja Keller¹  Wolfgang Distler¹  Karin Kast¹  Hans K Schackert²  Heike Görgens²  Kerstin Becker³  Barbara Klink³  Evelin Schröck³  Teresa M Neuhann⁴  Daniela Aust⁵ 

[1] Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany;Department of Surgical Research, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany;Institute for Clinical Genetics, Technische Universität Dresden, Dresden, Germany;Institute for Clinical Genetics, Technische Universität Dresden, Dresden, Germany;Medical Genetic Center, Munich, Germany;Institute of Pathology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany;

关键词: Ovarian Cancer;    Endometrial Cancer;    Triple Negative Breast Cancer;    Lynch Syndrome;    Denature High Performance Liquid Chromatography;   

DOI  :  10.1186/1471-2407-12-531

 received in 2012-06-22, accepted in 2012-11-08,  发布年份 2012

来源: Springer

【 摘 要 】

BackgroundHereditary 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 presentationWe 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.ConclusionsAlthough 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.

【 授权许可】

CC BY   
© Kast et al.; licensee BioMed Central Ltd. 2012