title: Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial 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.
  
  
  METHODS
  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.
authors.affiliation: Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. karin.kast@uniklinikum-dresden.de
authors.forename: Karin
authors.initials: K
authors.lastname: Kast
authors.forename: Teresa M
authors.initials: TM
authors.lastname: Neuhann
authors.forename: Heike
authors.initials: H
authors.lastname: Görgens
authors.forename: Kerstin
authors.initials: K
authors.lastname: Becker
authors.forename: Katja
authors.initials: K
authors.lastname: Keller
authors.forename: Barbara
authors.initials: B
authors.lastname: Klink
authors.forename: Daniela
authors.initials: D
authors.lastname: Aust
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Distler
authors.forename: Evelin
authors.initials: E
authors.lastname: Schröck
authors.forename: Hans K
authors.initials: HK
authors.lastname: Schackert
mesh_terms: D017668:Age of Onset; D002851:Chromatography, High Pressure Liquid; D004268:DNA-Binding Proteins / Q000235:genetics*; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C111164:BRAP protein, human; D044767:Ubiquitin-Protein Ligases