Familial Cancer

, Volume 12, Issue 2, pp 319–324 | Cite as

Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists

  • Fred H. Menko
  • Cora M. Aalfs
  • Lidewij Henneman
  • Yrrah Stol
  • Miranda Wijdenes
  • Ellen Otten
  • Marleen M. J. Ploegmakers
  • Johan Legemaate
  • Ellen M. A. Smets
  • Guido M. W. R. de Wert
  • Aad Tibben
Original Article


The diagnosis of Lynch syndrome can lead to the prevention of colorectal cancer through periodic colonoscopies and removal of premalignant lesions in susceptible individuals. Therefore, predisposed individuals identified by mutation analysis are advised to inform their at-risk relatives about the options of predictive DNA testing and preventive measures. However, it has now been established that more than half of these relatives do not receive the necessary information. Barriers in conveying information include family communication problems and variable attitudes and practice among clinical geneticists. In this complex field, both medical, psychological, ethical and juridical aspects deserve consideration. Here we summarize the development of a revised guideline for clinical geneticists that allows a more active role of the geneticist, aimed at improving procedures to inform family members in Lynch syndrome and other hereditary and familial cancer syndromes.


Hereditary cancer Lynch syndrome Genetic counselling Family communication Duty to warn 



We are grateful for the funding by the SKMS (Stichting Kwaliteitsgelden Medisch Specialisten) and the support given by Ms. Annemarie Hagemeijer, Ms. Lynette Wijgergangs, Netherlands Association of Medical Specialists, Utrecht, the Netherlands and Prof. Christi van Asperen, clinical geneticist, Leiden University Medical Center, Leiden, the Netherlands.


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Copyright information

© Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  • Fred H. Menko
    • 1
  • Cora M. Aalfs
    • 2
  • Lidewij Henneman
    • 1
    • 3
  • Yrrah Stol
    • 1
  • Miranda Wijdenes
    • 3
  • Ellen Otten
    • 4
  • Marleen M. J. Ploegmakers
    • 5
  • Johan Legemaate
    • 6
  • Ellen M. A. Smets
    • 7
  • Guido M. W. R. de Wert
    • 8
  • Aad Tibben
    • 9
    • 10
  1. 1.Department of Clinical GeneticsVU University Medical CenterAmsterdamThe Netherlands
  2. 2.Department of Clinical Genetics, Academic Medical CenterUniversity of AmsterdamAmsterdamThe Netherlands
  3. 3.EMGO Institute for Health and Care ResearchVU University Medical CenterAmsterdamThe Netherlands
  4. 4.Department of Medical Genetics, University Medical Center GroningenUniversity of GroningenGroningenThe Netherlands
  5. 5.Netherlands Association of Medical SpecialistsUtrechtThe Netherlands
  6. 6.Department of Social Medicine, Academic Medical CenterUniversity of AmsterdamAmsterdamThe Netherlands
  7. 7.Department of Medical Psychology, Academic Medical CenterUniversity of AmsterdamAmsterdamThe Netherlands
  8. 8.Department of Health, Ethics and Society, Faculty of Health, Medicine and Life SciencesMaastricht UniversityMaastrichtThe Netherlands
  9. 9.Department of Clinical Genetics, Center for Human and Clinical GeneticsLeiden University Medical CenterLeidenThe Netherlands
  10. 10.Department of Clinical GeneticsErasmus Medical CentreRotterdamThe Netherlands

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