title: Genetic testing in Li-Fraumeni syndrome: uptake and psychosocial consequences.
abstract: OBJECTIVE
  Li-Fraumeni syndrome (LFS) is a hereditary cancer syndrome, characterized by a high risk of developing cancer at various sites and ages. To date, limited clinical benefits of genetic testing for LFS have been demonstrated, and there are concerns about the potential adverse psychosocial impact of genetic testing for LFS. In this study, we evaluated the uptake of genetic testing and the psychosocial impact of undergoing or not undergoing a genetic test for LFS.
  
  
  METHODS
  In total, 18 families with a p53 germline mutation in the Netherlands were identified. Eligible family members were invited to complete a self-report questionnaire assessing motives for undergoing or not undergoing genetic testing, LFS-related distress and worries, and health-related quality of life.
  
  
  RESULTS
  Uptake of presymptomatic testing was 55% (65 of 119). Of the total group, 23% reported clinically relevant levels of LFS-related distress. Carriers were not significantly more distressed than noncarriers or than those with a 50% risk who did not undergo genetic testing. Those with a lack of social support were more prone to report clinically relevant levels of distress (odds ratio, 1.3; 95% CI, 1.0 to 1.5).
  
  
  CONCLUSIONS
  Although preventive and treatment options for LFS are limited, more than half of the family members from known LFS families choose to undergo presymptomatic testing. An unfavorable genetic test result, in general, does not cause adverse psychological effects. Nonetheless, it is important to note that a substantial proportion of individuals, irrespective of their carrier status, exhibit clinically relevant levels of distress which warrant psychological support.
authors.affiliation: Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Division of Psychosocial Research and Epidemiology, Amsterdam, The Netherlands.
authors.forename: Chantal R M
authors.initials: CR
authors.lastname: Lammens
authors.forename: Neil K
authors.initials: NK
authors.lastname: Aaronson
authors.forename: Anja
authors.initials: A
authors.lastname: Wagner
authors.forename: Rolf H
authors.initials: RH
authors.lastname: Sijmons
authors.forename: Margreet G E M
authors.initials: MG
authors.lastname: Ausems
authors.forename: Annette H J T
authors.initials: AH
authors.lastname: Vriends
authors.forename: Mariëlle W G
authors.initials: MW
authors.lastname: Ruijs
authors.forename: Theo A M
authors.initials: TA
authors.lastname: van Os
authors.forename: Liesbeth
authors.initials: L
authors.lastname: Spruijt
authors.forename: Encarna B
authors.initials: EB
authors.lastname: Gómez García
authors.forename: Irma
authors.initials: I
authors.lastname: Kluijt
authors.forename: Tanja
authors.initials: T
authors.lastname: Nagtegaal
authors.forename: Senno
authors.initials: S
authors.lastname: Verhoef
authors.forename: Eveline M A
authors.initials: EM
authors.lastname: Bleiker
mesh_terms: D000223:Adaptation, Psychological; D000293:Adolescent; D000328:Adult; D000368:Aged; D003220:Conflict, Psychological; D003430:Cross-Sectional Studies; D005260:Female; D005820:Genetic Testing; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology*; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D011379:Prognosis; D011788:Quality of Life; D012307:Risk Factors; D020377:Self Efficacy; D012944:Social Support; D013315:Stress, Psychological; D011795:Surveys and Questionnaires; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D055815:Young Adult
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53