title: Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer.
abstract: Lynch syndrome is known by healthcare providers mainly for patients with colorectal cancer. Awareness of other associated tumors, such as endometrial or ovarian cancer, is low. This study aimed to analyze the prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer. In addition, the willingness of patients and family members to undergo germline mutation testing was investigated.
  
  
  
  The medical records of all patients diagnosed with endometrial or ovarian cancer at the Department of Gynecology and Obsterics, University Hospital Dresden, between 1998 and 2012, were screened for a family history of HNPCC-associated cancer. Telephone interviews were used to screen, inform, and enroll patients in this genetic analysis study. Molecular analysis was performed by prescreening of tumor tissue, followed by germline mutation analysis.
  
  
  
  Two hundred and eighty-three patients were diagnosed with endometrial cancer, 291 with ovarian cancer, and 14 with both. A positive family history for tumors associated with Lynch syndrome was documented for 61 patients. Two pathogenic mutations in the genes MLH1 and MSH2 in nine genetic analyses had already been detected before. After genetic counseling, only 10 of 31 index patients (32.3 %) consented for mutation analysis. However, no additional pathogenic heterozygous mutations were found.
  
  
  
  In this retrospective cohort study in unselected patients with endometrial or ovarian cancer, only a small number of patients with suspected Lynch syndrome could be identified. Of those, acceptance of germline analyses was moderate, only. As a result, the rate of identified pathogenic germline mutations was lower than expected. Therefore, we are convinced that more information on cancer risks, options for predictive molecular testing and preventive procedures, needs to be provided to patients and gynecologists.
authors.affiliation: Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, TU Dresden, Fetscherstraße 74, 01307, Dresden, Germany. karin.kast@uniklinikum-dresden.de.|German Cancer Consortium (DKTK), Dresden, Germany. karin.kast@uniklinikum-dresden.de.|German Cancer Research Center (DKFZ), Heidelberg, Germany. karin.kast@uniklinikum-dresden.de.
authors.forename: Karin
authors.identifier: 0000-0001-6531-755X
authors.initials: K
authors.lastname: Kast
authors.affiliation: Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, TU Dresden, Fetscherstraße 74, 01307, Dresden, Germany.|German Cancer Consortium (DKTK), Dresden, Germany.|German Cancer Research Center (DKFZ), Heidelberg, Germany.
authors.forename: Catharina
authors.initials: C
authors.lastname: Dobberschütz
authors.affiliation: Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, TU Dresden, Fetscherstraße 74, 01307, Dresden, Germany.|German Cancer Consortium (DKTK), Dresden, Germany.|German Cancer Research Center (DKFZ), Heidelberg, Germany.
authors.forename: Carolin Eva
authors.initials: CE
authors.lastname: Sadowski
authors.affiliation: Department of Visceral, Thoracic and Vascular Surgery, TU Dresden, Dresden, Germany.|University Cancer Center (UCC) and Outpatient Clinic for Hereditary Gastrointestinal Tumors, TU Dresden, Dresden, Germany.
authors.forename: Steffen
authors.initials: S
authors.lastname: Pistorius
authors.affiliation: Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, TU Dresden, Fetscherstraße 74, 01307, Dresden, Germany.|German Cancer Consortium (DKTK), Dresden, Germany.|German Cancer Research Center (DKFZ), Heidelberg, Germany.
authors.forename: Pauline
authors.initials: P
authors.lastname: Wimberger
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000453:epidemiology*; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D005820:Genetic Testing / Q000379:methods; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics*; D015995:Prevalence; D012189:Retrospective Studies
keywords: Hereditary endometrial cancer; Lynch syndrome; Ovarian cancer