Cancer genetics service provision: A comparison of seven European centres

Community Genetics

Volumn 6, Issue 4, 2003, Pages 192-205

  Hopwood, P ^a   Van Asperen, C J ^b   Borreani, G ^c   Bourret, P ^d   Decruyenaere, M ^e   Dishon, S ^f   Eisinger, F ^d   Evans, D G R ^g   Evers Kiebooms, G ^e   Gangeri, L ^c   Hagoel, L ^f   Legius, E ^e   Nippert, I ^h   Rennert, G ^f   Schlegelberger, B ⁱ   Sevilla, C ^d   Sobol, H ^d   Tibben, A ^b   Welkenhuysen, M ^e   Julian Reynier, C ^d  

^a CHRISTIE HOSPITAL   (United Kingdom)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c NATIONAL CANCER INSTITUTE   (Italy)

^d INSTITUT PAOLI CALMETTES   (France)

^e CENTER FOR HUMAN GENETICS   (Belgium)

^f TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^g ST MARY S HOSPITAL   (United Kingdom)

^h INST OF REPRO MED OF THE UNIV   (Germany)

ⁱ HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

Breast cancer risk; Cancer genetic services; Colorectal cancer risk; European cancer genetics centres

Indexed keywords

BREAST CANCER; BREAST EXAMINATION; CANCER CENTER; CANCER GENETICS; CANCER RISK; CANCER SCREENING; CANCER SUSCEPTIBILITY; CLINICAL PRACTICE; COLON CANCER; COMPARATIVE STUDY; CONSULTATION; EUROPE; GENETIC PROCEDURES; HEALTH CARE; HEALTH CARE ACCESS; HEALTH CARE ORGANIZATION; HEALTH CARE PERSONNEL; HEALTH SERVICE; HEALTH SURVEY; MEDICAL CARE; MEDICAL SPECIALIST; PATIENT COUNSELING; PATIENT REFERRAL; PRIORITY JOURNAL; QUESTIONNAIRE; REVIEW;

BREAST NEOPLASMS; COLORECTAL NEOPLASMS; DATA COLLECTION; EUROPE; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HEALTH FACILITIES; HUMANS; ISRAEL; MOLECULAR DIAGNOSTIC TECHNIQUES; REFERRAL AND CONSULTATION;

EID: 4444282375     PISSN: 14222795     EISSN: None     Source Type: Journal    
DOI: 10.1159/000079381     Document Type: Review

References (56)

1. Miki Y, Swensen J, Shattuck-Eidens D, Futreal A, Harshman K, Tavtigian S, Liu QY, Cochran C, Bennett LM, Ding W, Bell R, Rosenthal J, Hussey C, Trant T, McClure M, Frye C, Hattier T, Phelps R, Haugenstrano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow PK, Norris FH, Helvering L, Morrison P, Rosteck P, Lai M, Barrett JC, Lewis C, Neuhausen S, Cannon-Albright L, Goldgar D, Wiseman R, Kamb A, Skolnick MH: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994;226:66-71.
2. Wooster R, Neuhausen S, Mangion J, Quirk Y, Ford D, Collins N, Gregory S, Gumbs C, Micklem G, Barfoot R, Hamoudi R, Patel S, Rice C, Biggs P, Hashim Y, Smith A, Connor F, Arason A, Gudmundsson J, Ficenec D, Kelsell D, Ford D, Tonin P, Bishop D, Spurr N, Ponder B, Eeles R, Peto J, Devilee P, Cornelisse C, Lynch H, Narod S, Lenoir G, Egilsson V, Barkadottir R, Easton D, Bentley D, Futreal P, Ashworth A, Stratton M: Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q 12-13. Science 1994;265:2088-2090.
3. Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomaki P, Chadwick RB, Kaariainen H, Eskelinen M, Jarvinen H, Mecklin JP, de la Chapelle A: Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998;338:1481-1487.
4. Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R: The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993;5:1027-1038.
5. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, Earabino C, Lipford J, Lindblom A: Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994;368:258-261.
6. Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, Igari T, Koike M, Chiba M, Mori T: Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 1997;7:271-272.
7. Percesepe A, Borghi F, Menigatti M, Losi L, Di Gregorio C, Rossi G, Pedroni M, Sala E, Vaccina F, Roncucci L, Benatti P, Viel A, Genuardi M, Marra G, Kristo P, Peltomaki P, Ponz de Leon M: Molecular screening for hereditary nonpolyposis colorectal cancer: A prospective, population-based study. J Clin Oncol 2001;19:3944-3950.
8. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertson H, Joslyn G, Stevens J, Spirio L, Robertson M, Sargent L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, Le Paslier D, Abderrahim H, Cohen D, Leppert M, White R: Identification and characterisation of the familial adenomatous polyposis coli gene. Cell 1991;66:589-600.
9. Joslyn G, Carlson M, Thliveris A, Albertson H, Gelbert L, Samowitz W, Groden J, Stevens J, Spirio L, Robertson M, Sargent L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, Le Paslier D, Abderrahim H, Cohen D, Leppert M, White R: Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 1991;66:601-613.
10. Kinzler KW, Nilbert MC, Su L-K, Vogelstein B, Bryan TM, Ley DB, Smith KJ, Preisinger C, Hedge P, McKechnie D, Finniear R, Markham A, Groffen J, Boguski MS, Altschul SF, Horii A, Ando H, Miyoshi Y, Miki Y, Nishisho I, Nakamura Y: Identification of FAP locus genes from chromosome 5q21. Science 1991;253:661-665.
11. Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, Timmerman MM, Brody LC, Tucker MA: The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997;336:1401-1408.
12. Satagopan JM, Offit K, Foulkes W, Robson ME, Wacholder S, Eng CM, Karp SE, Begg CB: The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. Cancer Epidemiol Biomarkers Prev 2001;10:467-473.
13. Evans DGR, Anderson E, Lalloo F, Vasen H, Beckmann M, Eccles D, Hodgson S, Moller P, Chang-Claude J, Morrison P, Stoppa-Lyonnet D, Steel M, Haites N: Utilisation of prophylactic mastectomy in 10 European centres. Dis Markers 1999;15:148-151.
14. Hodgson S, Milner B, Brown I, Bevilacqua G, Chang-Claude J, Eccles D, Evans G, Gregory H, Moller P, Morrison P, Steel M, Stoppa-Lyonnet D, Vasen H, Haites N: Cancer genetics services in Europe. Dis Markers 1999;15:3-13.
15. Hofferbert S, Worringen U, Backe J, Ruckert E-M, White K, Faller H, Grimm T, Caffier H, Chang-Claude J, Weber B: Simultaneous interdisciplinary counseling in German breast/ovarian cancer families: First experiences with patient perceptions, surveillance behavior and acceptance of genetic testing. Genet Couns 2000;11:127-146.
16. Julian-Reynier C, Eisinger F, Chabal, F, Aurran Y, Noguès C, Vennin P, Bignon Y-J, Machelard-Roumagnac M, Maugard-Louboutin C, Serin D, Versini S, Mercuri M, Sobol H: Cancer genetic clinics: Target population and consultees' expectations. Eur J Cancer 1996;32A:398-403.
17. Campbell H, Holloway S, Cetnarskyj R, Anderson E, Rush R, Fry A, Gorman D, Steel M, Porteous M: Referrals of women with a family history of breast cancer from primary care to cancer genetics services in South East Scotland. Br J Cancer 2003;89:1650-1656.
18. Steel M, Smyth E, Vasen H, Eccles D, Evans G, Møller P, Hodgson S, Stoppa-Lyonnet D, Chang-Claude J, Caligo M, Morrison P, Haites N: Ethical, social and economic issues in familial breast cancer: A compilation of views from the E.C. Biomed II Demonstration Project. Dis Markers 1999;15:125-131.
19. Stopfer JE: Genetic counseling and clinical cancer genetics services. Semin Surg Oncol 2000;18:347-357.
20. Thompson JA, Wesner GL, Sellers TA, Vachan C, Ahrens M, Potter JD, Sumpmann M, Kersey J: Genetic services for familial cancer patients: A survey of National Cancer Institute Cancer Centres. J Natl Cancer Inst 1995;87:1446-1455.
21. Vasen HF, Haites NE, Evans DG, Steel CM, Moller P, Hodgson S, Eccles D, Morrison P, Stoppa Lyonet D, Chang-Claude J, Caligo M: Current policies for surveillance and management in women at risk of breast and ovarian cancer: A survey among 16 European family cancer clinics. European Familial Breast Cancer Collaborative Group. Eur J Cancer 1998;34:1922-1926.
22. Wonderling D, Hopwood P, Cull A, Douglas F, Watson M, Burn J, McPherson K: A descriptive study of UK cancer genetics services: An emerging clinical response to the new genetics. Br J Cancer 2001;85:166-170.
23. Brain K, Gray J, Norman P, France E, Anglim C, Clarke A, Sweetlend H, Tischkowitz M, Myring J, Stansfield K, Webster D, Gower-Thomas K, Daoud R, Gateley C, Monypenny I, Singhal H, Branston L, Sampson J, Roberts E, Newcombe R, Cohen D, Rogers C, Mansel R, Harper P: Randomized trial of a specialist genetic assessment service for familial breast cancer. J Natl Cancer Inst 2000;92:1345-1351.
24. Fry A, Cull A, Appleton S, Rush R, Holloway S, Gorman D, Cetnarsky R, Thomas R, Campbell J, Anderson E, Steel M, Porteous M, Campbell H: A randomised trial of breast cancer genetics services in South East Scotland: Psychosocial impact. Br J Cancer 2003;89:653-659.
25. European Commission: Risk communication in cancer genetics: Lay people's expectations and providers' practices (CRISCOM); in Martins Bossier A, Kütt W, Joliff-Botrel G (eds): Strategic Accompanying Measures, Catalogue of Contracts (1999-2002). Luxembourg, European Communities, 2003, p 55.
26. Eisinger F, Alby N, Bremond A, Dauplat J, Espie M, Janiaud P, Kuttenn F, Lebrun JP, Lefranc JP, Pierret J, Sobol H, Stoppa-Lyonnet D, Thouvenin D, Tristant H, Feingold J: Recommendations for medical management of hereditary breast and ovarian cancer: The French National Ad Hoc Committee. Ann Oncol 1998;9:939-950.
27. Bundesärztekammer: Richtlinien zur Diagnostik der genetischen Disposition für Krebserkrankungen (German guidelines for the diagnosis of genetic disposition for cancer). Deutsches Ärzteblatt 1998;95:A-1396-A- 1403.
28. Van Asperen CJ, de Bock GH, van der Horst F, de Koning HJ, Rutgers EJ: Screening for breast cancer on basis of individual risk assessment for women ineligible for the national population screening program (in Dutch). Ned Tijdschr Geneeskd 2001;145:120-125.
29. Sauven P, on behalf of the Association of Breast Surgery Family History Guidelines Panel: Guidelines for the management of women at increased risk of breast cancer. Eur J Cancer 2004;40:653-665.
30. Eisinger F, Thouvenin D, Bignon YJ, Cuisenier J, Feingold J, Hoerni B, Lasset C, Lyonnet D, Maraninchi D, Marty M, et al: Réflexions sur l'organisation des consultations d'oncogénétique (première étape vers la publication de bonnes pratiques cliniques) [Considerations on the organization of oncologic-genetic consultations (a first step towards the publication of clinical practice guidelines)]. Bull Cancer 1995;82:865-878.
31. Frebourg T, Abel A, Bonaiti-Pellie C, Brugieres L, Berthet P, Bressac-de Paillerets B, Chevrier A, Chompret A, Cohen-Haguenauer O, Delattre O, Feingold J, Feunteun J, Frappaz D, Fricker JP, Gesta P, Jonveaux P, Kalifa C, Lasset C, Leheup B, Limacher JM, Longy M, Nogues C, Oppenheim D, Sommelet D, Soubrier F, Stoll C, Stoppa-Lyonnet D, Tristant H: Li-Fraumeni syndrome: Update, new data and guidelines for clinical management (in French). Bull Cancer 2001;88:581-587.
32. Schmutzler R, Schlegelberger B, Meindl A, Gerber W-D, Kiechle M: Beratung, Genetische Testung und Prävention von Frauen mit einer familiären Belastung für das Mammaund Ovarialkarzinom: Interdisziplinäre Empfehlungen des Verbundprojektes 'Familiärer Brust- und Eierstockkrebs' der Deutschen Krebshilfe (Counselling, genetic testing and preventive measures for women with a family history of breast and ovarian cancer: Interdisciplinary recommendations on 'Familial breast and ovarian cancer' by the German Cancer Aid joint project). Med Genet 2003;15:385-395.
33. Leitlinien zur molekulargenetischen Labordiagnostik. Med Genet 1996;8:4. (These are guidelines and statements of the German Association of Medical Genetics and the German Society for Human Genetics.)
34. Leitlinien zur molekulargenetischen Labordiagnostik. Med Genet 1996;8:4. (These are guidelines and statements of the German Association of Medical Genetics and the German Society for Human Genetics.)
35. Bertario L, Aste H, Arrigoni A, Fracasso P, Rossini FP, Rossetti C, Valanzano R: Clinical aspects and management of hereditary nonpolyposis colorectal cancer (HNPCC). Tumori 1996;82:117-121.
36. Trecate G, Vergnaghi D, Bergonzi S, De Simone T, Costa C, Spatti GB, Pasini B, Musumeci R: BMRI in early detection of breast cancer in patients with increased genetic risk: Our preliminary results. J Exp Clin Cancer Res 2002;21(3 suppl):125-130.
37. Hodgson SV, Bishop DT, Dunlop MG, Evans DG, Northover JM: Suggested screening guidelines for familial colorectal cancer. J Med Screen 1995;2:45-51.
38. Eccles DM, Evans DG, Mackay J: Guidelines for a genetic risk based approach to advising women with a family history of breast cancer. UK Cancer Family Study Group (UKCFSG). J Med Genet 2000;37:203-209.
39. Van Asperen CJ, Jonker MA, Jacobi CE, van Diemen-Homan JE, Bakker E, Breuning MH, van Houwelingen JC, de Bock GH: Risk estimation for healthy women from breast cancer families: New insights and new strategies. Cancer Epidemiol Biomarkers Prev 2004;13:87-93.
40. Claus EB, Risch N, Thomson WD: Autosomal dominant inheritance of early onset breast cancer. Cancer 1994;73:643-651.
41. Berry MO, Parmigiani G, Sanchez J, Schildkraut J, Winer E: Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Natl Cancer Inst 1997;89:227-238.
42. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC: Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals. J Clin Oncol 2002;20:1480-1490.
43. Rodriguez-Bigas M, Boland R, Hamilton SR, Henson DE, Jass JR, Meera Khan P, Lynch H, Perucho M, Smyrk T, Sobin L, Srivastava S: A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting highlights and Bethesda Guidelines. J Natl Cancer Inst 1997;89:1758-1762.
44. Evans DGR, Bulman M, Young K, Gokhale D, Lalloo F: Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families. J Med Genet 2003;40:e107.
45. Hendriks Y, Franken P, Dierssen JW, De Leeuw W, Wijnen J, Dreef E, Tops C, Breuning M, Brocker-Vriends A, Vasen H, Fodde R, Morreau H: Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors. Am J Pathol 2003;162:469-477.
46. Leach FS, Polyak K, Burrell M, Johnson KA, Hill D, Dunlop MG, Wyllie AH, Peltomaki P, de la Chapelle A, Hamilton SR, Kinzler KW, Vogelstein B: Expression of the human mismatch repair gene hMSH2 in normal and neoplastic tissues. Cancer Res 1996;56:235-240.
47. Thibodeau SN, French AJ, Roche PC, Cunningham JM, Tester DJ, Lindor NM, Moslein G, Baker SM, Liskay RM, Burgart LJ, Honchel R, Halling KC: Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes. Cancer Res 1996;56:4836-4840.
48. Sevilla C, Moatti JP, Julian-Reynier C, Eisinger F, Stoppa-Lyonet D, Bressac de Paillerets B, Sobol H: Testing for BRCA1 mutations: A cost-effectiveness analysis. Eur J Hum Genet 2002;10:599-606.
49. Knorr C, Karin D: The Manufacture of Knowledge: An Essay on the Constructivist and Contextual Nature of Science. Oxford, Pergamon, 1981.
50. Knorr-Cetina KD: The culture of knowledge societies; in Epistemic Cultures: How the Sciences Make Knowledge, chap 1.2. Cambridge, MA, Harvard University Press, 1999.
51. Ash A, Cohendet P: Architectures of Knowledge. Firms, Capabilities and Communities. Oxford, Oxford University, in press.
52. Evans DG, Blair V, Greenhalgh R, Hopwood P, Howell A: The impact of genetic counselling on risk perception in women with a family history of breast cancer. Br J Cancer 1994;70:934-938.
53. McPherson K: Variations entre pays des pratiques médicales; in: Les systèmes de santé à la recherche d'efficacité. Paris, OCDE, 1990, pp 17-30.
54. Payer L: Medicine and Culture: Varieties of Treatment in the United States, England, West Germany and France. London, Penguin, 1988.
55. McIntosh A, Shaw C, Evans G, Turnbull N, Bahar N, Barclay M, Easton D, Emery J, Gray J, Halpin J, Hopwood P, KcKay J, Sheppard C, Sibbering M, Watson W, Wailoo A, Hutchinson A: Clinical Guidelines and Evidence Review for the Classification and Care of Women at Risk of Familial Breast Cancer. London, National Collaborating Centre for Primary Care/University of Sheffield, 2004.
56. National Institute for Clinical Excellence: Clinical Guidelines for the Classification and Care of Women at Risk of Familial Breast Cancer (Clinical Guideline 14). Developed by National Collaborating Centre for Primary Care/ University of Sheffield. National Institute for Clinical Excellence, London, May 2004 (www.nice.org.uk).