title: Impact of genetic testing on endometrial cancer risk-reducing practices in women at risk for Lynch syndrome.
abstract: OBJECTIVE
  Due to the increased lifetime risk of endometrial cancer (EC), guidelines recommend that women with Lynch syndrome (LS) age ≥ 35 undergo annual EC surveillance or prophylactic hysterectomy (PH). The aim of this study was to examine the uptake of these risk-reducing strategies.
  
  
  METHODS
  The study population included women meeting clinical criteria for genetic evaluation for LS. Data on cancer risk-reducing behaviors were collected from subjects enrolled in two distinct studies: (1) a multicenter cross-sectional study involving completion of a one-time questionnaire, or (2) a single-center longitudinal study in which subjects completed questionnaires before and after undergoing genetic testing. The main outcome was uptake of EC risk-reducing practices.
  
  
  RESULTS
  In the cross-sectional cohort, 58/77 (75%) women at risk for LS-associated EC reported engaging in EC risk-reduction. Personal history of genetic testing was associated with uptake of EC surveillance or PH (OR 17.1; 95% CI 4.1-70.9). Prior to genetic testing for LS, 26/40 (65%) women in the longitudinal cohort reported engaging in EC risk-reduction. At one-year follow-up, 16/16 (100%) mismatch repair (MMR) gene mutation carriers were adherent to guidelines for EC risk-reduction, 9 (56%) of whom had undergone PH. By three-year follow-up, 11/16 (69%) MMR mutation carriers had undergone PH. Among women with negative or uninformative genetic test results, none underwent PH after testing.
  
  
  CONCLUSIONS
  Genetic testing for LS is strongly associated with uptake of EC risk-reducing practices. Women found to have LS in this study underwent prophylactic gynecologic surgery at rates comparable to those published for BRCA1/2 mutation carriers.
authors.affiliation: Beth Israel Deaconess Medical Center, Boston, MA, USA.
authors.forename: Matthew B
authors.initials: MB
authors.lastname: Yurgelun
authors.forename: Rowena
authors.initials: R
authors.lastname: Mercado
authors.forename: Margery
authors.initials: M
authors.lastname: Rosenblatt
authors.forename: Monica
authors.initials: M
authors.lastname: Dandapani
authors.forename: Wendy
authors.initials: W
authors.lastname: Kohlmann
authors.forename: Peggy
authors.initials: P
authors.lastname: Conrad
authors.forename: Amie
authors.initials: A
authors.lastname: Blanco
authors.forename: Kristen M
authors.initials: KM
authors.lastname: Shannon
authors.forename: Daniel C
authors.initials: DC
authors.lastname: Chung
authors.forename: Jonathan
authors.initials: J
authors.lastname: Terdiman
authors.forename: Stephen B
authors.initials: SB
authors.lastname: Gruber
authors.forename: Judy E
authors.initials: JE
authors.lastname: Garber
authors.forename: Sapna
authors.initials: S
authors.lastname: Syngal
authors.forename: Elena M
authors.initials: EM
authors.lastname: Stoffel
mesh_terms: D000328:Adult; D000368:Aged; D015331:Cohort Studies; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D003430:Cross-Sectional Studies; D053843:DNA Mismatch Repair; D016889:Endometrial Neoplasms / Q000517:prevention & control*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007044:Hysterectomy; D008875:Middle Aged; D012306:Risk