title: Impact of an immunohistochemistry-based universal screening protocol for Lynch syndrome in endometrial cancer on genetic counseling and testing.
abstract: OBJECTIVE
  Evaluate effects of a Lynch syndrome universal screening protocol in newly diagnosed endometrial cancers on subsequent genetic counseling (GC) and germline testing (GT) referral and acceptance rates.
  
  
  METHODS
  We performed a retrospective cohort study of women who underwent a hysterectomy for endometrial cancer at Barnes Jewish Hospital in St. Louis, MO between 1/1/2011 and 12/31/2013 (n=637). An immunohistochemistry-based (IHC) universal screening protocol for Lynch syndrome was initiated on 12/17/2012. The cohorts consisted of women presenting prior to (Pre-Em-USP; n=395) and those presenting following (Em-USP; n=242) initiation of the universal screening protocol. GC and GT referrals were based on risk factors and/or IHC results. Comparisons were made using the Fisher's exact test and the Kruskal-Wallis test.
  
  
  RESULTS
  A greater proportion of individuals in the Em-USP cohort underwent GT than in Pre-Em-USP (9.1% vs 4.8%, p<0.05). Of individuals with an IHC screening result suggestive of LS, those within the Em-USP cohort were significantly more likely to accept GC compared to those in the Pre-Em-USP cohort (95% vs 64%, p=0.02). Specifically within the Em-USP cohort, patients referred to GC due to a concerning IHC screening result, versus those who were referred based on other risk factors, had a higher counseling acceptance rate (95% vs 61%, p=0.03) and underwent genetic testing more readily (76% vs 30%, p<0.001).
  
  
  CONCLUSIONS
  Implementation of an IHC-based universal screening protocol for LS in endometrial cancer leads to higher acceptance of genetic counseling and higher rates of genetic testing compared to referral based on risk factors alone.
authors.affiliation: Department of Obstetrics and Gynecology, Washington University School of Medicine, St. Louis, MO, United States.
authors.forename: Antonina I
authors.initials: AI
authors.lastname: Frolova
authors.affiliation: Department of Obstetrics and Gynecology, Washington University School of Medicine, St. Louis, MO, United States.
authors.forename: Sheri A
authors.initials: SA
authors.lastname: Babb
authors.affiliation: Department of Obstetrics and Gynecology, Washington University School of Medicine, St. Louis, MO, United States.
authors.forename: Emily
authors.initials: E
authors.lastname: Zantow
authors.affiliation: Department of Obstetrics and Gynecology, Washington University School of Medicine, St. Louis, MO, United States.
authors.forename: Andrea R
authors.initials: AR
authors.lastname: Hagemann
authors.affiliation: Department of Obstetrics and Gynecology, Washington University School of Medicine, St. Louis, MO, United States.
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Powell
authors.affiliation: Department of Obstetrics and Gynecology, Washington University School of Medicine, St. Louis, MO, United States.
authors.forename: Premal H
authors.initials: PH
authors.lastname: Thaker
authors.affiliation: Division of Biostatistics, Washington University School of Medicine, St. Louis, MO, United States.
authors.forename: Feng
authors.initials: F
authors.lastname: Gao
authors.affiliation: Department of Obstetrics and Gynecology, Washington University School of Medicine, St. Louis, MO, United States. Electronic address: mutchd@wudosis.wustl.edu.
authors.forename: David G
authors.initials: DG
authors.lastname: Mutch
mesh_terms: D000328:Adult; D000368:Aged; D015331:Cohort Studies; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D055088:Early Detection of Cancer / Q000379:methods; D016889:Endometrial Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000601:surgery; D005260:Female; D005817:Genetic Counseling / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D018095:Germ-Line Mutation; D006801:Humans; D007150:Immunohistochemistry; D008875:Middle Aged; D012189:Retrospective Studies
keywords: Endometrial cancer; Genetic counseling; Genetic testing; Lynch syndrome