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Familial Cancer

, Volume 4, Issue 4, pp 295–300 | Cite as

Long Term Follow-up of HNPCC Gene Mutation Carriers: Compliance with Screening and Satisfaction with Counseling and Screening Procedures

  • Anja WagnerEmail author
  • Ingrid van Kessel
  • Mieke G. Kriege
  • Carli M. J. Tops
  • Juul Th. Wijnen
  • Hans F. A. Vasen
  • Conny A. van der Meer
  • Iris I. H. van Oostrom
  • Hanne Meijers-Heijboer
Article

Abstract

Hereditary non polyposis colorectal cancer (HNPCC) is a hereditary predisposition to colorectal and endometrial cancer, caused by mutations of the mismatch repair (MMR) genes MSH2, MLH1 and MSH6. Regular colonoscopy reduces the incidence of colorectal cancer in mutation carriers dramatically. The aim of this study was to evaluate the use of colonoscopy by proven HNPCC mutation carriers. We also evaluated the satisfaction with the counseling and screening procedures at the long term. A questionnaire survey was performed among 94 proven MMR gene mutation carriers. Data were analyzed using univariate and multivariate analysis. The average time of follow-up was 3,5 years (range 0.5–8.5 years). The response rate was 74%. The proportion of unaffected mutation carriers under colonoscopic screening increased from 31 to 88% upon genetic testing, and for gynecological screening from 17 to 69%. However, more than half of the responders experienced colonoscopy as unpleasant or painful. About 97% felt well informed during counseling, and 88% felt sufficiently supported. Ten percent of the responders reported a high cancer worry that was significantly (P = 0.007) associated with a high perceived cancer risk. Six responders (9%) regretted being tested. Remarkably, of 4 of these 6 a close relative died recently of cancer. Problems with obtaining a disability or life insurance or mortgage were experienced by 4 out 10 healthy carriers opting for these services. In conclusion, genetic testing for HNPCC considerably improves compliance for screening, which will result in a reduction of HNPCC-related cancer morbidity and mortality in mutation carriers. Most HNPCC gene mutation carriers cope well with their cancer susceptibility on the long term.

Keywords:

colonoscopy counseling follow-up HNPCC mutation carriers satisfaction screening 

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Copyright information

© Springer 2005

Authors and Affiliations

  • Anja Wagner
    • 1
    Email author
  • Ingrid van Kessel
    • 1
  • Mieke G. Kriege
    • 2
  • Carli M. J. Tops
    • 3
  • Juul Th. Wijnen
    • 3
  • Hans F. A. Vasen
    • 4
  • Conny A. van der Meer
    • 1
  • Iris I. H. van Oostrom
    • 1
  • Hanne Meijers-Heijboer
    • 1
  1. 1.Department of Clinical GeneticsErasmus University Medical CenterAH RotterdamThe Netherlands
  2. 2.Department of Clinical OncologyErasmus University Medical CenterRotterdamThe Netherlands
  3. 3.Department of Human and Clinical GeneticsLeiden University Medical CenterLeidenThe Netherlands
  4. 4.The Netherlands Foundation for the Detection of Hereditary TumorsLeidenThe Netherlands

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