title: Endometrial cancer patients and compliance with genetic counseling: room for improvement.
abstract: BACKGROUND
  Immunohistochemistry (IHC) for the presence or absence of DNA mismatch repair (MMR) proteins in tumor samples is a quick and relatively inexpensive method to screen for Lynch syndrome (LS). At our institution we have found that >20% of patients lack expression of MMR proteins and >10% would be expected to benefit from genetic counseling (GC). However, compliance with referral to GC is poor. Therefore, we set out to analyze the reasons for noncompliance, hypothesizing that it could be due to a perception of a low risk for developing other cancers.
  
  
  METHODS
  All patients with endometrial cancer between 2007 and 2009 were identified. Patients with absence of MMR protein expression who would be expected to benefit from GC were identified. These patients were sent a questionnaire assessing the utilization of GC services as well as their perception of LS and Lynch-associated cancers.
  
  
  RESULTS
  Forty-seven patients out of 384 were identified who would have been expected to benefit from GC. Of the responders, 20 patients (77%) reported that they were referred by their physician for GC, of which 9 saw a genetic counselor, 8 had genetic testing, and 3 mutations were detected. The primary reason for not seeing a genetic counselor was no insurance coverage/cost of the visit followed by anxiety for the results. Nine patients stated that the patient/family did not want to know information regarding cancer risk. As compared to the general population 35% thought their risk of having LS was higher, 12% thought it was the same, 15% lower, and 38% was unsure. Forty-six percent of patients thought the risk of colon cancer was higher than background risk, and 26% thought it was the same.
  
  
  CONCLUSIONS
  Most patients underestimate their risk of LS associated heritable cancer. Physicians should pay more attention to family history and IHC in order to refer patients appropriately. In addition, more verbal and written information may enable patients to accurately assess their cancer risk. This could further improve compliance with genetic counseling and detection of Lynch syndrome.
authors.affiliation: Division of Gynecologic Oncology, The Ohio State University College of Medicine, Columbus, OH, USA.
authors.forename: Floor J
authors.initials: FJ
authors.lastname: Backes
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Mitchell
authors.forename: Heather
authors.initials: H
authors.lastname: Hampel
authors.forename: David E
authors.initials: DE
authors.lastname: Cohn
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000096:biosynthesis / Q000235:genetics; D000465:Algorithms; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics / Q000523:psychology; D053843:DNA Mismatch Repair; D004268:DNA-Binding Proteins / Q000096:biosynthesis / Q000235:genetics; D016889:Endometrial Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000517:prevention & control / Q000523:psychology*; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000096:biosynthesis / Q000235:genetics; D009687:Nuclear Proteins / Q000096:biosynthesis / Q000235:genetics; D010349:Patient Compliance; D010465:Perception; D012017:Referral and Consultation; D012189:Retrospective Studies
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein