Zusammenfassung
Hintergrund: Bei der Abschätzung des Potenzials der Früherkennung von Darmkrebs bei Personen mit familiärem bzw. hereditärem Risiko ist die Frage, ob Risiken für das Vorhandensein und die Entwicklung von kolorektalen Tumoren bei positiver bzw. negativer Familienanamnese differieren, von grundlegender Bedeutung. Methodik: Hochrechnungen, die auf Ergebnissen der Literaturrecherche zu absoluten, relativen und kumulativen Risiken familiärer und hereditärer Merkmalsträger sowie den aktuellen Zahlen zur Inzidenz kolorektaler Tumore beruhen. Ergebnisse: Das absolute Darmkrebsrisiko der Personen, die mittels eines Fragebogens als familiäre Risikoperson eingestuft werden, ist je nach Alter der befragten Person und des erkrankten Verwandten sowie der Anzahl der erkrankten Verwandten um den Faktor 2 – 4 erhöht. Das Darmkrebsrisiko dieser Personen liegt in der Größenordnung von rund 10 – 15 Jahre älteren Personen ohne Risiko. Für die Gruppe mit hereditärem Risiko zeigt sich ein stark erhöhtes Darmkrebsrisiko (Faktor 8 – 80). Schlussfolgerungen: 40- bis 45-jährige familiäre Risikopersonen haben ein vergleichbares Erkrankungsrisikos wie 55- bis 59-jährige Personen der Allgemeinbevölkerung. Daher sollte der gesetzliche Anspruch auf Screening-Koloskopien für Personen mit familiärer Belastung auf die Altersgruppe der 40- bis 45-Jährigen ausgeweitet werden. Personen mit Verdacht auf hereditäre Belastung sollten eine genetische Beratung und ggf. eine leitlinienkonforme koloskopische Surveillance erhalten.
Abstract
Background: The question whether persons at familial or hereditary risk differ in terms of absolute, relative, or cumulative risk for colorectal cancer or not is of importance for the estimation of the potential of early detection of colorectal cancer in persons with familial or hereditary risks. Methods: Based on the results of a systematic literature search on absolute, relative, and cumulative risks of familial and hereditary disposition for colorectal cancer as well as actual German tumour incidence data, projections were conducted. Results: The absolute risk for colorectal cancer in familial risk persons identified by means of a questionnaire is increased by a factor of 2 – 4 depending on the age at questioning, the age of the family member at cancer diagnosis and number of family members with colorectal cancer. Their absolute colorectal cancer risk equals that of persons without this risk who are 10 to 15 years older. Persons with hereditary risk show an increase in risk by a factor of 8 – 80. Conclusion: Persons aged 40 to 45 years with a familial risk constellation show a risk for colorectal cancer that equals the risk of 55- to 59-year-old persons from the general population. Therefore, the legal right for screening colonoscopy should be extended to the persons at risk aged 40 to 45 years. Persons suspected for hereditary risk should have a genetic counselling and, in case of germ mutation, a colonoscopic surveillance according to the actual guidelines.
Schlüsselwörter
kolorektales Karzinom - familiäres Risiko - hereditäres Risiko - Familienanamnese - koloskopische Surveillance
Key words
colorectal cancer - familial risk - hereditary risk - family history - coloscopic surveillance
Literatur
-
1
Kolligs F T, Sackmann M, Goke B.
Screening zur Vorbeugung des kolorektalen Karzinoms. Wer, wann, wie? (Screening for prevention of colorectal carcinoma. Who, when, how?.
MMW Fortschr Med.
2002;
144
24-28
-
2 Robert Koch-Institut und Gesellschaft der Epidemiologischen Krebsregister in Deutschland e.V .Krebs in Deutschland 2003 – 2004. Häufigkeiten und Trends. Berlin; Robert Koch-Institut 2008
-
3
Katalinic A, Raspe H, Waldmann A.
Identifikation von Personen mit familiärem oder hereditärem Darmkrebsrisiko mittels eines Fragebogens zur Familienanamnese.
Eingereicht bei: Zeitschrift für Gastroenterologie, Februar 2009.
-
4
Benhamiche-Bouvier A M, Lejeune C, Jouve J L. et al .
Family history and risk of colorectal cancer: implications for screening programmes.
J Med Screen.
2000;
7
136-140
-
5
Burchert A, Schmassmann A.
Evaluation der verschiedenen Screening- und Surveillance-Strategien beim kolorektalen Karzinom. (Evaluation of various screening and surveillance methods in colorectal carcinoma).
Schweiz Med Wochenschr.
1998;
128
999-1011
-
6
Houlston R S.
Colorectal cancer screening.
Crit Rev Oncol Hematol.
1999;
30
183-187
-
7
Bermejo J L, Eng C, Hemminki K.
Cancer characteristics in Swedish families fulfilling criteria for hereditary nonpolyposis colorectal cancer.
Gastroenterology.
2005;
129
1889-1899
-
8
Voskuil D W, Vasen H F, Kampman E. et al .
Colorectal cancer risk in HNPCC families: development during lifetime and in successive generations. National Collaborative Group on HNPCC.
Int J Cancer.
1997;
72
205-209
-
9
Carayol J, Khlat M, Maccario J. et al .
Hereditary non-polyposis colorectal cancer: current risks of colorectal cancer largely overestimated.
J Med Genet.
2002;
39
335-339
-
10
Dove-Edwin I, Thomas H J.
Review article: the prevention of colorectal cancer.
Aliment Pharmacol Ther.
2001;
15
323-336
-
11
Ahnen D J, Lynch K L.
Colorectal cancer screening in average- and high-risk groups.
Adv Intern Med.
2001;
46
77-106
-
12
Bermejo J L, Hemminki K.
Familial risk of cancer shortly after diagnosis of the first familial tumor.
J Natl Cancer Inst.
2005;
97
1575-1579
-
13
Schoen R E.
Families at risk for colorectal cancer: risk assessment and genetic testing.
J Clin Gastroenterol.
2000;
31
114-120
-
14
Baglietto L, Jenkins M A, Severi G. et al .
Measures of familial aggregation depend on definition of family history: meta-analysis for colorectal cancer.
J Clin Epidemiol.
2006;
59
114-124
-
15
Andrieu N, Launoy G, Guillois R. et al .
Familial relative risk of colorectal cancer: a population-based study.
Eur J Cancer.
2003;
39
1904-1911
-
16
Andrieu N, Launoy G, Guillois R. et al .
Estimation of the familial relative risk of cancer by site from a French population based family study on colorectal cancer (CCREF study).
Gut.
2004;
53
1322-1328
-
17
Ahsan H, Neugut A I, Garbowski G C. et al .
Family history of colorectal adenomatous polyps and increased risk for colorectal cancer.
Ann Intern Med.
1998;
128
900-905
-
18
Keku T O, Millikan R C, Martin C. et al .
Family history of colon cancer: what does it mean and how is it useful?.
Am J Prev Med.
2003;
24
170-176
-
19
Negri E, Braga C, La Vecchia C. et al .
Family history of cancer and risk of colorectal cancer in Italy.
Br J Cancer.
1998;
77
174-179
-
20
Sandhu M S, Luben R, Khaw K T.
Prevalence and family history of colorectal cancer: implications for screening.
J Med Screen.
2001;
8
69-72
-
21
Butterworth A S, Higgins J P, Pharoah P.
Relative and absolute risk of colorectal cancer for individuals with a family history: a meta-analysis.
Eur J Cancer.
2006;
42
216-227
-
22
Johns L E, Houlston R S.
A systematic review and meta-analysis of familial colorectal cancer risk.
Am J Gastroenterol.
2001;
96
2992-3003
-
23
Ferrandez A, DiSario J A.
Colorectal cancer: screening and surveillance for high-risk individuals.
Expert Rev Anticancer Ther.
2003;
3
851-862
-
24
Dong C, Hemminki K.
Modification of cancer risks in offspring by sibling and parental cancers from 2,112,616 nuclear families.
Int J Cancer.
2001;
92
144-150
-
25
Ericson K, Nilbert M, Bladstrom A. et al .
Familial risk of tumors associated with hereditary non-polyposis colorectal cancer: a Swedish population-based study.
Scand J Gastroenterol.
2004;
39
1259-1265
-
26
Hemminki K, Vaittinen P.
Effect of paternal and maternal cancer on cancer in the offspring: a population-based study.
Cancer Epidemiol Biomarkers Prev.
1997;
6
993-997
-
27
Kerber R A, Slattery M L, Potter J D. et al .
Risk of colon cancer associated with a family history of cancer or colorectal polyps: the diet, activity, and reproduction in colon cancer study.
Int J Cancer.
1998;
78
157-160
-
28
Stefansson T, Moller P H, Sigurdsson F. et al .
Familial risk of colon and rectal cancer in Iceland: evidence for different etiologic factors?.
Int J Cancer.
2006;
119
304-308
-
29
Brown G J, St John D J, Macrae F A. et al .
Cancer risk in young women at risk of hereditary nonpolyposis colorectal cancer: implications for gynecologic surveillance.
Gynecol Oncol.
2001;
80
346-349
-
30
Jatoi I, Anderson W F.
Cancer screening.
Curr Probl Surg.
2005;
42
620-682
-
31
Anderson W F, Umar A, Brawley O W.
Colorectal carcinoma in black and white race.
Cancer Metastasis Rev.
2003;
22
67-82
-
32
Johns L E, Kee F, Collins B J. et al .
Colorectal cancer mortality in first-degree relatives of early-onset colorectal cancer cases.
Dis Colon Rectum.
2002;
45
681-686
-
33
McLeod R S.
Screening strategies for colorectal cancer: a systematic review of the evidence.
Can J Gastroenterol.
2001;
15
647-660
-
34
Anwar S, Hall C, White J. et al .
Hereditary non-polyposis colorectal cancer: an updated review.
Eur J Surg Oncol.
2000;
26
635-645
-
35
Lin K M, Shashidharan M, Thorson A G. et al .
Cumulative incidence of colorectal and extracolonic cancers in MLH1 and MSH2 mutation carriers of hereditary nonpolyposis colorectal cancer.
J Gastrointest Surg.
1998;
2
67-71
-
36
Aarnio M, Sankila R, Pukkala E. et al .
Cancer risk in mutation carriers of DNA-mismatch-repair genes.
Int J Cancer.
1999;
81
214-218
-
37
Dunlop M G, Farrington S M, Carothers A D. et al .
Cancer risk associated with germline DNA mismatch repair gene mutations.
Hum Mol Genet.
1997;
6
105-110
-
38
Watson P, Lynch H T.
Cancer risk in mismatch repair gene mutation carriers.
Fam Cancer.
2001;
1
57-60
-
39
Hampel H, Stephens J A, Pukkala E. et al .
Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset.
Gastroenterology.
2005;
129
415-421
-
40
Schmiegel W, Pox C, Adler G. et al .
S3-Leitlinienkonferenz „Kolorektales Karzinom” 2004. Leitlinie der Deutschen Gesellschaft für Verdauungs- und Stoffwechselkrankheiten (Hrsg).
Dtsch Med Wochenschr.
2005;
130
S5-S53
-
41
Grover S, Stoffel E M, Bussone L. et al .
Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients.
Clin Gastroenterol Hepatol.
2004;
2
813-819
-
42
Loader S, Shields C, Levenkron J C. et al .
Patient vs. physician as the target of educational outreach about screening for an inherited susceptibility to colorectal cancer.
Genet Test.
2002;
6
281-290
-
43
Aktan-Collan K, Haukkala A, Pylvanainen K. et al .
Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing.
J Med Genet.
2007;
44
732-738
-
44
Ponz de Leon M, Benatti P, Di Gregorio C. et al .
Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.
Br J Cancer.
2004;
90
882-887
-
45
Brenner H.
Efficacy, Effectiveness and cost-effectiveness of endoscopic screening methods.
Z Gastroenterol.
2008;
46
S20-22
-
46
Brenner H, Arndt V, Sturmer T. et al .
Long-lasting reduction of risk of colorectal cancer following screening endoscopy.
Br J Cancer.
2001;
85
972-976
-
47
Muto T, Bussey H J, Morson B C.
The evolution of cancer of the colon and rectum.
Cancer.
1975;
36
2251-2270
-
48
Vogelstein B, Kinzler K W.
The multistep nature of cancer.
Trends Genet.
1993;
9
138-141
-
49
Winawer S J.
A quarter century of colorectal cancer screening: progress and prospects.
J Clin Oncol.
2001;
19
6S-12S
Dr. Annika Waldmann
Universität zu Lübeck, Institut für Krebsepidemiologie e. V.
Beckergrube 43 – 47
23552 Lübeck
Email: Annika.Waldmann@krebsregister-sh.de
