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

doi:10.1007/s10689-009-9291-3

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 NagengastY 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

98 Citationer (Scopus)

Abstract

Udgivelsesdato: 2010-Jun

Originalsprog	Engelsk
Tidsskrift	Familial Cancer
Vol/bind	9
Udgave nummer	2
Sider (fra-til)	109-15
Antal sider	6
DOI	https://doi.org/10.1007/s10689-009-9291-3
Status	Udgivet - 2010

Adgang til dokumentet

10.1007/s10689-009-9291-3

Citationsformater

Vasen, H. F. A., Möslein, G., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Blanco, I., Bulow, S., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, I., Rahner, N., Hes, F. J., Hodgson, S., Mecklin, J.-P., Møller, P., Myrhøj, T., ... Müller, H. (2010). Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Familial Cancer, 9(2), 109-15. https://doi.org/10.1007/s10689-009-9291-3

Vasen, HFA, Möslein, G, Alonso, A, Aretz, S, Bernstein, I, Bertario, L, Blanco, I, Bulow, S, Burn, J, Capella, G, Colas, C, Engel, C, Frayling, I, Rahner, N, Hes, FJ, Hodgson, S, Mecklin, J-P, Møller, P, Myrhøj, T, Nagengast, FM, Parc, Y, Ponz de Leon, M, Renkonen-Sinisalo, L, Sampson, JR, Stormorken, A, Tejpar, S, Thomas, HJW, Wijnen, J, Lubinski, J, Järvinen, H, Claes, E, Heinimann, K, Karagiannis, JA, Lindblom, A, Dove-Edwin, I & Müller, H 2010, 'Recommendations to improve identification of hereditary and familial colorectal cancer in Europe', Familial Cancer, bind 9, nr. 2, s. 109-15. https://doi.org/10.1007/s10689-009-9291-3

@article{835eff2552da40f8a440200b33dc9d2c,

title = "Recommendations to improve identification of hereditary and familial colorectal cancer in Europe",

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 = "Colorectal Neoplasms, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Mismatch Repair, Europe, Genetic Counseling, Genetic Predisposition to Disease, Genetic Testing, Health Planning Guidelines, Humans, Medical History Taking, MutS Homolog 2 Protein, Mutation, Pedigree, Risk Factors",

author = "Vasen, {H F A} and G M{\"o}slein and A Alonso and S Aretz and I Bernstein and L Bertario and I Blanco and S Bulow and J Burn and G Capella and C Colas and C Engel and I Frayling and N Rahner and Hes, {F J} and S Hodgson and J-P Mecklin and P M{\o}ller and T Myrh{\o}j and Nagengast, {F M} and Y Parc and {Ponz de Leon}, M and L Renkonen-Sinisalo and Sampson, {J R} and A Stormorken and S Tejpar and Thomas, {H J W} and J Wijnen and J Lubinski and H J{\"a}rvinen and E Claes and K Heinimann and Karagiannis, {J A} and A Lindblom and I Dove-Edwin and H M{\"u}ller",

year = "2010",

doi = "10.1007/s10689-009-9291-3",

language = "English",

volume = "9",

pages = "109--15",

journal = "Familial Cancer",

issn = "1573-7292",

publisher = "Springer Science and Business Media B.V.",

number = "2",

}

TY - JOUR

T1 - Recommendations to improve identification of hereditary and familial colorectal cancer in Europe

AU - Vasen, H F A

AU - Möslein, G

AU - Alonso, A

AU - Aretz, S

AU - Bernstein, I

AU - Bertario, L

AU - Blanco, I

AU - Bulow, S

AU - Burn, J

AU - Capella, G

AU - Colas, C

AU - Engel, C

AU - Frayling, I

AU - Rahner, N

AU - Hes, F J

AU - Hodgson, S

AU - Mecklin, J-P

AU - Møller, P

AU - Myrhøj, T

AU - Nagengast, F M

AU - Parc, Y

AU - Ponz de Leon, M

AU - Renkonen-Sinisalo, L

AU - Sampson, J R

AU - Stormorken, A

AU - Tejpar, S

AU - Thomas, H J W

AU - Wijnen, J

AU - Lubinski, J

AU - Järvinen, H

AU - Claes, E

AU - Heinimann, K

AU - Karagiannis, J A

AU - Lindblom, A

AU - Dove-Edwin, I

AU - Müller, H

PY - 2010

Y1 - 2010

N2 - 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.

AB - 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.

KW - Colorectal Neoplasms

KW - Colorectal Neoplasms, Hereditary Nonpolyposis

KW - DNA Mismatch Repair

KW - Europe

KW - Genetic Counseling

KW - Genetic Predisposition to Disease

KW - Genetic Testing

KW - Health Planning Guidelines

KW - Humans

KW - Medical History Taking

KW - MutS Homolog 2 Protein

KW - Mutation

KW - Pedigree

KW - Risk Factors

U2 - 10.1007/s10689-009-9291-3

DO - 10.1007/s10689-009-9291-3

M3 - Journal article

C2 - 19763885

SN - 1573-7292

VL - 9

SP - 109

EP - 115

JO - Familial Cancer

JF - Familial Cancer

IS - 2

ER -

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

Abstract

Adgang til dokumentet

Fingeraftryk

Citationsformater