Familial Cancer

, Volume 9, Issue 2, pp 109–115

Recommendations to improve identification of hereditary and familial colorectal cancer in Europe

  • H. F. A. Vasen
  • G. Möslein
  • A. Alonso
  • S. Aretz
  • I. Bernstein
  • L. Bertario
  • I. Blanco
  • S. Bulow
  • J. Burn
  • G. Capella
  • C. Colas
  • C. Engel
  • I. Frayling
  • N. Rahner
  • F. J. Hes
  • S. Hodgson
  • J.-P. Mecklin
  • P. Møller
  • T. Myrhøj
  • F. M. Nagengast
  • Y. Parc
  • M. Ponz de Leon
  • L. Renkonen-Sinisalo
  • J. R. Sampson
  • A. Stormorken
  • S. Tejpar
  • H. J. W. Thomas
  • J. Wijnen
  • J. Lubinski
  • H. Järvinen
  • E. Claes
  • K. Heinimann
  • J. A. Karagiannis
  • A. Lindblom
  • I. Dove-Edwin
  • H. Müller
Article

DOI: 10.1007/s10689-009-9291-3

Cite this article as:
Vasen, H.F.A., Möslein, G., Alonso, A. et al. Familial Cancer (2010) 9: 109. doi:10.1007/s10689-009-9291-3

Abstract

Familial colorectal cancer (CRC) accounts for 10–15% of all CRCs. In about 5% of all cases, CRC is associated with a highly penetrant dominant inherited syndrome. The most common inherited form of non-polyposis CRC is the Lynch syndrome which is responsible for about 2–4% of all cases. Surveillance of individuals at high risk for CRC prevents the development of advanced CRC. About 1 million individuals in Western Europe are at risk for Lynch syndrome. We performed a survey to evaluate the strategies currently used to identify individuals at high risk for CRC in 14 Western European countries. Questionnaires were distributed amongst members of a European collaborative group of experts that aims to improve the prognosis of families with hereditary CRC. The survey showed that in all countries obtaining a family history followed by referral to clinical genetics centres of suspected cases was the main strategy to identify familial and hereditary CRC. In five out of seven countries with a (regional or national) CRC population screening program, attention was paid in the program to the detection of familial CRC. In only one country were special campaigns organized to increase the awareness of familial CRC among the general population. In almost all countries, the family history is assessed when a patient visits a general practitioner or hospital. However, the quality of family history taking was felt to be rather poor. Microsatellite instability testing (MSI) or immunohistochemical analysis (IHC) of CRC are usually recommended as tools to select high-risk patients for genetic testing and are performed in most countries in patients suspected of Lynch syndrome. In one country, IHC was recommended in all new cases of CRC. In most countries there are no specific programs on cancer genetics in the teaching curriculum for medical doctors. In conclusion, the outcome of this survey and the discussions within an European expert group may be used to improve the strategies to identify individuals at high risk of CRC. More attention should be given to increasing the awareness of the general population of hereditary CRC. Immunohistochemical analysis or MSI-analysis of all CRCs may be an effective tool for identifying all Lynch syndrome families. The cost-effectiveness of this approach should be further evaluated. All countries with a CRC population screening program should obtain a full family history as part of patient assessment.

Keywords

Lynch syndrome Identification Family history Hereditary colorectal cancer Familial colorectal cancer Microsatellite instability Immunohistochemical analysis Prevention 

Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • H. F. A. Vasen
    • 1
    • 30
  • G. Möslein
    • 2
  • A. Alonso
    • 3
  • S. Aretz
    • 4
  • I. Bernstein
    • 5
  • L. Bertario
    • 6
  • I. Blanco
    • 7
  • S. Bulow
    • 8
  • J. Burn
    • 9
  • G. Capella
    • 10
  • C. Colas
    • 11
  • C. Engel
    • 12
  • I. Frayling
    • 13
  • N. Rahner
    • 4
  • F. J. Hes
    • 14
  • S. Hodgson
    • 15
  • J.-P. Mecklin
    • 16
  • P. Møller
    • 17
  • T. Myrhøj
    • 5
  • F. M. Nagengast
    • 18
  • Y. Parc
    • 19
  • M. Ponz de Leon
    • 20
  • L. Renkonen-Sinisalo
    • 21
  • J. R. Sampson
    • 13
  • A. Stormorken
    • 22
  • S. Tejpar
    • 23
  • H. J. W. Thomas
    • 24
  • J. Wijnen
    • 14
  • J. Lubinski
    • 25
  • H. Järvinen
    • 21
  • E. Claes
    • 26
  • K. Heinimann
    • 27
  • J. A. Karagiannis
    • 28
  • A. Lindblom
    • 29
  • I. Dove-Edwin
    • 24
  • H. Müller
    • 27
  1. 1.Department of GastroenterologyLeiden University Medical CentreLeidenThe Netherlands
  2. 2.Department of SurgerySt. Josefs Hospital Bochum-Linden (Helios)BochumGermany
  3. 3.Department of Medical GeneticsHospital Virgen del CaminoPamplonaSpain
  4. 4.Institute of Human GeneticsUniversity HospitalBonnGermany
  5. 5.HNPCC-registry, Hvidrove HospitalHvidroveDenmark
  6. 6.Department of SurgeryHospital TumoriMilanItaly
  7. 7.Department of Genetic Counselling, Prevention and CancerCatelonian Institute of OncologyBarcelonaSpain
  8. 8.Department of SurgeryHvidrove HospitalHvidroveDenmark
  9. 9.Institute of Human GeneticsNewcastle UniversityNewcastle upon TyneUK
  10. 10.Catelonian Institute of OncologyBarcelonaSpain
  11. 11.Laboratoire d’OncogenetiqueGroupe Hospitalier Pitié-SalpêtreParisFrance
  12. 12.Institute of Medical Informatics, Statistics and EpidemiologyUniversity of LeipzigLeipzigGermany
  13. 13.Institute of Medical GeneticsCardiffUK
  14. 14.Department of Clinical and Human GeneticsLeiden University Medical CentreLeidenThe Netherlands
  15. 15.Department of Clinical GeneticsSt. George’s University of LondonLondonUK
  16. 16.Department of SurgeryJyvaskyla Central HospitalJyvaskylaFinland
  17. 17.Department of GeneticsNorwegian Radium HospitalOsloNorway
  18. 18.Department of GastroenterologyUniversity Medical CentreRadboud, NijmegenThe Netherlands
  19. 19.Department of Digestive SurgeryHospital Saint-Antoine, University Pierre et MarieParisFrance
  20. 20.Department of Internal MedicineUniversity HospitalModenaItaly
  21. 21.Department of SurgeryHelsinki University Central HospitalHelsinkiFinland
  22. 22.Department of Medical GeneticsUllevål University HospitalOsloNorway
  23. 23.Digestive Oncology Unit, Department of Internal MedicineUniversity Hospital GasthuisbergLeuvenBelgium
  24. 24.Department of Gastroenterology, Family Cancer Group, Cancer Research, UK CRC UnitSt. Mark’s HospitalHarrow, MiddlesexUK
  25. 25.International Hereditary Cancer CentrePomerian Medical UniversitySzczecinPoland
  26. 26.FAPABrusselsBelgium
  27. 27.Division of Medical GeneticsUniversity of Children’s HospitalBaselSwitzerland
  28. 28.Department of GastroenterologyKonstantopoulio University HospitalAthensGreece
  29. 29.Department of Molecular Medicine and SurgeryKarolinska InsitutetStockholmSweden
  30. 30.Dutch Hereditary Cancer Registry and Department of GastroenterologyLeiden University Medical CentreAA LeidenThe Netherlands

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