Breast cancer screening, outside the population-screening program, of women from breast cancer families without proven BRCA1/BRCA2 mutations: A simulation study

Cancer Epidemiology Biomarkers and Prevention

Volumn 15, Issue 3, 2006, Pages 429-436

  Jacobi, Catharina E ^a   Nagelkerke, Nico J D ^a,b   Van Houwelingen, J C ^a   De Bock, Geertruida H ^a,c  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; ARTICLE; BREAST CANCER; CANCER SCREENING; CANCER SUSCEPTIBILITY; COST EFFECTIVENESS ANALYSIS; FAMILY; FAMILY HISTORY; FEMALE; GENE MUTATION; HUMAN; MAMMOGRAPHY; MATHEMATICAL MODEL; ONCOGENE; PRIORITY JOURNAL; QUALITY ADJUSTED LIFE YEAR; QUALITY OF LIFE; SIMULATION;

ADULT; AGE FACTORS; BREAST NEOPLASMS; COST-BENEFIT ANALYSIS; FEMALE; GENES, BRCA1; GENES, BRCA2; HUMANS; MASS SCREENING; MIDDLE AGED; MODELS, THEORETICAL; MUTATION; NETHERLANDS; PATIENT SIMULATION; PEDIGREE; PREVALENCE; RISK ASSESSMENT; SURVIVAL RATE;

EID: 33645498499     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-05-0223     Document Type: Article

References (84)

1. Visser O, Coebergh JWW, van Dijck JAAM, Siesling S. Incidence of cancer in the Netherlands 1998. Tenth report of the Netherlands Cancer Registry. Utrecht (the Netherlands): Association of Comprehensive Cancer Centres; 2002. ISBN:90-72175-32-B.
2. American Cancer Society [homepage on the Internet]. Atlanta (GA). Breast cancer facts and figures. 2003-2004. [cited 2005 Aug 30]. Available from: http://www.cancer.org/.
3. Claus EB, Risch N, Thompson WD. Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 1991;48:232-42.
4. Claus EB, Risch N, Thompson WD. Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer 1994;73:643-51.
5. van Asperen CJ, de Bock GH, van der HF, de Koning HJ, Rutgers EJ. Screening op mammacarcinoom buiten het landelijk bevolkingsonderzoek, op grond van individuele risico-inschatting. Ned Tijdschr Geneeskd 2001;145:120-5.
6. Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast-cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998;62:676-89.
7. Colditz GA, Willett WC, Hunter DJ, et al. Family history, age, and risk of breast cancer. Prospective data from the Nurses' Health Study. JAMA 1993;270:338-43.
8. Slattery ML, Kerber RA. A comprehensive evaluation of family history and breast cancer risk. The Utah Population Database. JAMA 1993;270:1563-8.
9. Nathanson KN, Wooster R, Weber BL. Breast cancer genetics: what we know and what we need. Nat Med 2001;7:552-6.
10. Easton DF, Ford D, Bishop DT. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 1995;56:265-71.
11. Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003;72:1117-30.
12. King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003;302:643-6.
13. Shapiro S, Coleman EA, Broeders M, et al. Breast-cancer screening programmes in 22 countries: current policies, administration and guidelines. International Breast Cancer Screening Network (IBSN) and the European Network of Pilot Projects for Breast Cancer Screening. Int J Epidemiol 1998;27:735-42.
14. Sauven P. Guidelines for the management of women at increased familial risk of breast cancer. Eur J Cancer 2004;40:653-65.
15. Mouchawar J, Valentine GK, Somkin C, et al. Guidelines for breast and ovarian cancer genetic counseling referral: adoption and implementation in HMOs. Genet Med 2003;5:444-50.
16. Collaborative Group on Hormonal Factors in Breast Cancer. Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet 2001;358:1389-99.
17. Statline [database on the Internet]. Voorburg/Heelen (the Netherlands): Statistics Netherlands, [cited 2005 Aug 30]. Available from http://statline.cbs. nl/.
18. Jacobi CE, Jonker MA, Nagelkerke NJD, van Houwelingen JC, de Bock GH. The prevalence of family histories of breast cancer in the general population and the incidence of related health care visits. J Med Genet 2003;40:e-83.
19. Jonker MA, Jacobi CE, Hoogendoorn WE, Nagelkerke NJD, de Bock GH, van Houwelingen JC. Modeling familial clustered breast cancer using published data. Cancer Epidemiol Biomarkers Prev 2003;12:1479-85.
20. Meijers-Heijboer H, van den Ouweland A, Klijn J, et al. Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002;31:55-9.
21. Broeks A, Urbanus JH, Floore AN, et al. ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. Am J Hum Genet 2000;66:494-500.
22. Van Landeghem P, Bleyen L, De Backer G. Age-specific accuracy of initial versus subsequent mammography screening: results from the Ghent breast cancer-screening programme. Eur J Cancer Prev 2002;11:147-51.
23. Kerlikowske K, Grady D, Barclay J, Sickles EA, Ernster V. Effect of age, breast density, and family history on the sensitivity of first screening mammography. JAMA 1996;276:33-8.
24. Peer PG, Verbeek AL, Straatman H, Hendriks JH, Holland R. Age-specific sensitivities of mammographic screening for breast cancer. Breast Cancer Res Treat 1996;38:153-60.
25. Otten JD, van Dijck JA, Peer PG, et al. Long-term breast-cancer screening in Nijmegen, the Netherlands: the nine rounds from 1975-92. J Epidemiol Community Health 1996;50:353-8.
26. Landelijk Evaluatie Team voor Bevolkingsonderzoek naar Borstkanker, Erasmus University, Department of Public Health. Landelijke evaluatie van bevolkingsonderzoek naar borstkanker in Nederland (IXth Report). Rotterdam (the Netherlands): Erasmus University; 2001. ISBN:90-72245-98-9.
27. Peer PG, van Dijck JA, Hendriks JH, Holland R, Verbeek AL. Age-dependent growth rate of primary breast cancer. Cancer 1993;71:3547-51.
28. Law J, Faulkner K. Cancers detected and induced, and associated risk and benefit, in a breast screening programme. Br J Radiol 2001;74:1121-7.
29. Tabar L, Vitak B, Chen HHT, Yen MF, Duffy SW, Smith RA. Beyond randomized controlled trials-organized mammographic screening substantially reduces breast carcinoma mortality. Cancer 2001;91:1724-31.
30. Coebergh JW, Janssen M, Louwman M, et al. Cancer incidence, care and survival in the South of the Netherlands 1955-1999. Eindhoven: The Eindhoven Cancer Registry (IKZ), 2001. ISBN 90-5001-009-1.
31. Sant M, Allemani C, Berrino F, et al. Breast carcinoma survival in Europe and the United States. Cancer 2004;100:715-22.
32. Kroman N, Jensen MB, Wohlfahrt J, Mouridsen HT, Andersen PK, Melbye M. Factors influencing the effect of age on prognosis in breast cancer: population based study. BMJ 2000;320:474-8.
33. de Koning HJ, van Ineveld BM, van Oortmarssen GJ, et al. Breast-cancer screening and cost-effectiveness; policy alternatives, quality of life considerations and the possible impact of uncertain factors. Int J Cancer 1991;49:531-7.
34. Rijnsburger AJ, Essink-Bot ML, Van Dooren S, et al. Impact of screening for breast cancer in high-risk women on health-related quality of life. Br J Cancer 2004;91:69-76.
35. College voor Zorgverzekeringen [homepage on the Internet]. Diagnostisch Kompas. Amstelveen: College voor Zorgverzekeringen (National Health Insurance Board), [cited 2005 Aug 30]. Available from: http:// www.dk.cvz.nl/.
36. Calaf GM, Hei TK. Establishment of a radiation- and estrogen-induced breast cancer model. Carcinogenesis 2000;21:769-76.
37. Buchholz TA, Wu X, Hussain A, et al. Evidence of haplotype insufficiency in human cells containing a germline mutation in BRCA1 or BRCA2. Int J Cancer 2002;97:557-61.
38. Rothfuss A, Schutz P, Bochum S, et al. Induced micronucleus frequencies in peripheral lymphocytes as a screening test for carriers of a BRCA1 mutation in breast-cancer families. Cancer Res 2000;60:390-4.
39. Perry N, Broeders M, de Wolf C, Törnberg S, Schouten J, editors. European guidelines for quality assurance in mammography screening. 3rd ed. Brussels (Begium): European Commission; 2001. ISBN: 92-894-1145-7.
40. van Asperen CJ, Tollenaar RA, Krol-Warmerdam EM, et al. Possible consequences of applying guidelines to healthy women with a family history of breast cancer. Eur J Hum Genet 2003;11:633-6.
41. de Bock GH, Vliet Vlieland TP, Hageman GC, Oosterwijk JC, Springer MP, Kievit J. The assessment of genetic risk of breast cancer: a set of GP guidelines. Fam Pract 1999;16:71-7.
42. Vasen HF, Haites NE, Evans DG, et al. 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;34:1922-6.
43. Duffy SW, Day NE, Tabar L, Chen HH, Smith TC. Markov models of breast tumor progression: some age-specific results. J Natl Cancer Inst Monogr 1997;22:93-7.
44. Ren JJ, Peer PG. A study on effectiveness of screening mammograms. Int J Epidemiol 2000;29:803-6.
45. van Leeuwen FE, Klokman WJ, Stovall M, et al. Roles of radiation dose, chemotherapy, and hormonal factors in breast cancer following Hodgkin's disease. J Natl Cancer Inst 2003;95:971-80.
46. Tyrer J, Duffy SW, Cuzick J. A breast cancer prediction model incorporating familial and personal risk factors. Stat Med 2004;23:1111-30.
47. de Bock GH, Jacobi CE, Jonker MA, Nagelkerke NJ, van Houwelingen JC. A breast cancer prediction model. Stat Med 2005;24:1610-2.
48. Peer PG, Verbeek AL, Mravunac M, Hendriks JH, Holland R. Prognosis of younger and older patients with early breast cancer. Br J Cancer 1996;73:382-5.
49. Nixon AJ, Neuberg D, Hayes DF, et al. Relationship of patient age to pathologic features of the tumor and prognosis for patients with stage I or II breast cancer. J Clin Oncol 1994;12:888-94.
50. Hodgson SV, Haites NE, Caligo M, et al. A survey of the current clinical facilities for the management of familial cancer in Europe. European Union BIOMED II Demonstration Project. Familial breast cancer: audit of a new development in medical practice in European centres. J Med Genet 2000; 37:605-7.
51. de Koning HJ. Mammographic screening: evidence from randomised controlled trials. Ann Oncol 2003;14:1185-9.
52. Walter SD. Mammographic screening: case-control studies. Ann Oncol 2003; 14:1190-2.
53. Hackshaw A. EUSOMA review of mammography screening [review]. Ann Oncol 2003;14:1193-5.
54. Law J. Cancers detected and induced in mammographic screening: new screening schedules and younger women with family history. Br J Radiol 1997;70:62-9.
55. Friedenson B. Is mammography indicated for women with defective BRCA genes? Implications of recent scientific advances for the diagnosis, treatment, and prevention of hereditary breast cancer. Med Gen Med 2000;2:E9.
56. den Otter W, Merchant TE, Beijerinck D, Koten JW. Breast cancer induction due to mammographic screening in hereditarily affected women. Anticancer Res 1996;16:3173-5.
57. den Otter W, Merchant TE, Beijerinck D, Koten JW. Exclusion from mammographic screening of women genetically predisposed to breast cancer will probably eliminate mammographically induced breast cancer. Anticancer Res 1993;13:1113-5.
58. Chappuis PO, Rosenblatt J, Foulkes WD. The influence of familial and hereditary factors on the prognosis of breast cancer. Ann Oncol 1999;10:1163-70.
59. Phillips KA, Andrulis IL, Goodwin PJ. Breast carcinomas arising in carriers of mutations in BRCA1 or BRCA2: are they prognostically different? J Clin Oncol 1999;17:3653-63.
60. Verhoog LC, Berns EM, Brekelmans CT, Seynaeve C, Meijers-Heijboer EJ, Klijn JG. Prognostic significance of germline BRCA2 mutations in hereditary breast cancer patients. J Clin Oncol 2000;18:119-24S.
61. Iau PTC, Macmillan RD, Blamey RW. Germ line mutations associated with breast cancer susceptibility. Eur J Cancer 2001;37:300-21.
62. Robson M. Are BRCA1- and BRCA2-associated breast cancers different? Prognosis of BRCA1-associated breast cancer. J Clin Oncol 2000;18:113-8S.
63. Agnarsson BA, Jonasson JG, Bjornsdottir IB, Barkardottir RB, Egilsson V, Sigurdsson H. Inherited BRCA2 mutation associated with high grade breast cancer. Breast Cancer Res Treat 1998;47:121-7.
64. Wagner TM, Moslinger RA, Muhr D, et al. BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics. Int J Cancer 1998;77:354-60.
65. Foulkes WD, Wong N, Brunet JS, et al. Germ-line BRCA1 mutation is an adverse prognostic factor in Ashkenazi Jewish women with breast cancer. Clin Cancer Res 1997;3:2465-9.
66. Foulkes WD, Chappuis PO, Wong N, et al. Primary node negative breast cancer in BRCA1 mutation carriers has a poor outcome. Ann Oncol 2000;11:307-13.
67. Gaffney DK, Brohet RM, Lewis CM, et al. Response to radiation therapy and prognosis in breast cancer patients with BRCA1 and BRCA2 mutations. Radiother Oncol 1998;47:129-36.
68. Garcia-Patino E, Gomendio B, Provencio M, et al. Germ-line BRCA1 mutations in women with sporadic breast cancer: clinical correlations. J Clin Oncol 1998;16:115-20.
69. Hamann U, Sinn HP. Survival and tumor characteristics of German hereditary breast cancer patients. Breast Cancer Res Treat 2000;59:185-92.
70. Johannsson OT, Idvall I, Anderson C, et al. Tumour biological features of BRCA1-induced breast and ovarian cancer. Eur J Cancer 1997;33:362-71.
71. Johannsson OT, Ranstam J, Borg A, Olsson H. Survival of BRCA1 breast and ovarian cancer patients: a population-based study from southern Sweden. J Clin Oncol 1998;16:397-404.
72. Lee JS, Wacholder S, Struewing JP, et al. Survival after breast cancer in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 1999;91:259-63.
73. Loman N, Johannsson O, Bendahl P, et al. Prognosis and clinical presentation of BRCA2-associated breast cancer. Eur J Cancer 2000;36:1365-73.
74. Marcus JN, Watson P, Page DL, et al. Hereditary breast cancer: pathobiology, prognosis, and BRCA1 and BRCA2 gene linkage. Cancer 1996;77:697-709.
75. Pierce LJ, Strawderman M, Narod SA, et al. Effect of radiotherapy after breast-conserving treatment in women with breast cancer and germline BRCA1/2 mutations. J Clin Oncol 2000;18:3360-9.
76. Porter DE, Dixon M, Smyth E, Steel CM. Breast cancer survival in BRCA1 carriers. Lancet 1993;341:184-5.
77. Porter DE, Cohen BB, Wallace MR, et al. Breast cancer incidence, penetrance and survival in probable carriers of BRCA1 gene mutation in families linked to BRCA1 on chromosome 17q12-21. Br J Surg 1994;81:1512-5.
78. Robson M, Gilewski T, Haas B, et al. BRCA-associated breast cancer in young women. J Clin Oncol 1998;16:1642-9.
79. Robson M, Levin D, Federici M, et al. Breast conservation therapy for invasive breast cancer in Ashkenazi women with BRCA gene founder mutations. J Natl Cancer Inst 1999;91:2112-7.
80. Stoppa-Lyonnet D, Ansquer Y, Dreyfus H, et al. Familial invasive breast cancers: worse outcome related to BRCA1 mutations. J Clin Oncol 2000; 18:4053-9.
81. Verhoog LC, Brekelmans CT, Seynaeve C, et al. Survival and rumour characteristics of breast-cancer patients with germline mutations of BRCA1. Lancet 1998;351:316-21.
82. Verhoog LC, Brekelmans CT, Seynaeve C, et al. Survival in hereditary breast cancer associated with germline mutations of BRCA2. J Clin Oncol 1999; 17:3396-402.
83. Eerola H, Vahteristo P, Sarantaus L, et al. Survival of breast cancer patients in BRCA1, BRCA2, and non-BRCA1/2 breast-cancer families: a relative survival analysis from Finland. Int J Cancer 2001;93:368-72.
84. Stouthard MEA, Essink-Bot ML, Bonsel GJ, et al. Weighing factors for diseases in the Netherlands. Amsterdam (the Netherlands), Academic Medical Center, University of Amsterdam, Department of Social Medicine; 1997. ISBN:90-71433-55-2.