Public Health Aspects of Breast Cancer Gene Testing in Canada Part 1: Risks and Interventions

Chronic Diseases in Canada

Volumn 20, Issue 1, 1999, Pages 3-13

  Elwood, J Mark ^a  

^a UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

BRCA1; BRCA2; Breast neoplasms; Canada; Genes; Genetic screening; Mass screening; Ovarian neoplasms; Predictive value; Risk

Indexed keywords

ANTINEOPLASTIC HORMONE AGONISTS AND ANTAGONISTS; TAMOXIFEN;

ADULT; AGED; ARTICLE; BREAST TUMOR; CANADA; FEMALE; GENETIC SCREENING; GENETICS; HETEROZYGOTE DETECTION; HUMAN; JEW; MAMMOGRAPHY; MASTECTOMY; MIDDLE AGED; OVARY TUMOR; PROGNOSIS; RISK; SENSITIVITY AND SPECIFICITY; TUMOR SUPPRESSOR GENE;

ADULT; AGED; AGED, 80 AND OVER; ANTINEOPLASTIC AGENTS, HORMONAL; BREAST NEOPLASMS; CANADA; FEMALE; GENES, BRCA1; GENES, TUMOR SUPPRESSOR; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; JEWS; MAMMOGRAPHY; MASTECTOMY; MIDDLE AGED; OVARIAN NEOPLASMS; PROGNOSIS; RISK; SENSITIVITY AND SPECIFICITY; TAMOXIFEN;

EID: 0032618388     PISSN: 02288699     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (91)

1. Elwood JM. Public health aspects of breast cancer gene testing in Canada. Part 2: Selection for and effects of testing. Chronic Dis Can 1999;20(1):14-20.
2. Elwood JM. Public health aspects of breast cancer gene testing in Canada. Part 3: A model of potential need and demand. Chronic Dis Can 1999;20(1):21-5.
3. Hall JM, Lee MK, Morrow J, et al. Linkage analysis of early onset breast cancer to chromosome 17q21. Science 1990;250:1684-9.
4. Narod SA, Feunteun J, Lynch HT, et al. Familial breast-ovarian cancer locus on chromosome 17q12-q23. Lancet 1991;338:82-3.
5. Ford D, Easton DF, Peto J. Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am J Hum Genet 1995;57:1457-62.
6. Miki Y, Swensen J, Shattuck-Eidens D, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994;266:66-71.
7. Cannon-Albright LA, Skolnick MH. The genetics of familial breast cancer. Semin Oncol 1996;23:1-5.
8. Holt JT, Thompson ME, Szabo C, et al. Growth retardation and tumour inhibition by BRCA1. Nat Genet 1996;12:298-302.
9. Greene MH. Genetics of breast cancer. Mayo Clin Proc 1997;72:54-65.
10. Holt JT. Breast cancer genes: therapeutic strategies. Ann N Y Acad Sci 1997;833:34-41.
11. Wooster R, Bignell G, Lancaster J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995;378:789-92.
12. Phelan CM, Lancaster JM, Tonin P, et al. Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nat Genet 1996;13:120-2.
13. Ford D, Easton DF, Bishop DT, Narod SA, Golgar DE, Breast Cancer Linkage Consortium. Risks of cancer in BRCA1-mutation carriers. Lancet 1994;343:692-5.
14. Easton DF, Ford D, Bishop DT, Breast Cancer Linkage Consortium. Breast and ovarian cancer incidence in BRCA-1 mutation carriers. Am J Hum Genet 1995;56:265-71.
15. Easton DF, Steele L, Fields P, et al. Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet 1997;61:120-8.
16. Struewing JP, Hartge P, Wacholder S, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997;336:1401-8.
17. Easton DF, Bishop DT, Ford D, Crockford GP, Breast Cancer Linkage Consortium. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. Am J Hum Genet 1993;52:678-701.
18. Easton D, Ford D, Peto J. Inherited susceptibility to breast cancer. Cancer Surv 1993;18:95-113.
19. Claus EB, Risch N, Thompson WD. Genetic analysis of breast cancer in the Cancer and Steroid Hormone Study. Am J Hum Genet 1991;48:232-41.
20. Couch FJ, DeShano ML, Blackwood MA, et al. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med 1997;336:1409-15.
21. Shattuck-Evans D, Oliphant A, McClure M, et al. BRCA1 sequence analysis in women at high risk for susceptibility mutations: risk factor analysis and implications for genetic testing. JAMA 1997;278:1242-50.
22. Krainer M, Silva-Arrieta S, FitzGerald MG, et al. Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer. N Engl J Med 1997;336:1416-21.
23. Couch FJ, Farid LM, DeShano ML, et al. BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nat Genet 1996;13:123-5.
24. Langston AA, Malone KE, Thompson JD, Daling JR, Ostrander EA. BRCA1 mutations in a population-based sample of young women with breast cancer. N Engl J Med 1996;334:137-42.
25. Malone KE, Daling JR, Thompson JD, O'Brien CA, Francisco LV, Ostrander EA. BRCA1 mutations and breast cancer in the general population. JAMA 1998;279:922-9.
26. Eeles R. Testing for the breast cancer predisposition gene, BRCA1. Documenting the outcome in gene carriers is essential. BMJ 1996;313:572-3.
27. Bryant H. Genetic screening for breast cancer in Ashkenazi women. Lancet 1996;347:1638-9.
28. Szabo CI, King M. Population genetics of BRCA1 and BRCA2. Am J Hum Genet 1997;60:1013-20.
29. Simard J, Tonin P, Durocher F, et al. Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet 1994;8:392-8.
30. Wong N, Brunet J, Narod SA, et al. Germ-line BRCA1 mutation is an adverse prognostic factor in Ashkenazi Jewish women with breast cancer [abstract]. Terry Fox Workshop on Cancer Genetics (Canadian Collaborative Group for Cancer Genetics); 1997 May 31-Jun 1; Toronto (Ont).
31. Tonin PN, Mes-Masson A, Provencher D. Mutation analysis of BRCA1 and BRCA2 hereditary breast-ovarian cancer families of French-Canadian descent [abstract]. Terry Fox Workshop on Cancer Genetics (Canadian Collaborative Group for Cancer Genetics); May 31-Jun 1; Toronto (Ont).
32. Inoue R, Fukutomi T, Ushijima T, et al. Germline mutation of BRCA1 in Japanese breast cancer families. Cancer Res 1995;55:3521-4.
33. Thorlacius S, Olafsdottir G, Tryggvadottir L, et al. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet 1996;13:117-9.
34. Foulkes WD. BRCA1 and BRCA2: penetrating the clinical arena. Lancet 1998;352:1325-6.
35. Serova OM, Mazoyer S, Puget N, et al. Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer susceptibility genes? Am J Hum Genet 1997;60:486-95.
36. Malkin D, Li FP, Strong LC. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 1997;250:1233-8.
37. Easton DF. Cancer risks in A-T heterozygotes. Int J Radiat Biol 1994;55:S177-82.
38. Swift M, Reitnauer PJ, Morrell D, Chase CL. Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med 1987;316:1289-94.
39. Swift M, Morrell D, Cromartie E, et al. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 1991;325:1831-6.
40. Newman B, Millikan RC, King M. Genetic epidemiology of breast and ovarian cancers. Epidemiol Rev 1997;19:69-79.
41. Brunet J, Ghadirian P, Rebbeck TR, et al. Effect of smoking on breast cancer in carriers of mutant BRCA1 or BRCA2 genes. J Natl Cancer Inst 1998;90:761-6.
42. Ambrosone CB, Freudenheim L, Graham S, et al. Cigarette smoking, N-acetyltransferase 2 genetic polymorphisms, and breast cancer risk. JAMA 1996;276:1494-501.
43. Ishibe N, Hankinson SE, Colditz GA, et al. Cigarette smoking, cytochrome P450 1A1 polymorphisms, and breast cancer risk in the Nurses' Health Study. Cancer Res 1998;58:667-71.
44. Couch FJ, Weber BL. Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Hum Mutat 1996;8:8-18.
45. Burke W, Daly M, Garber J, et al., for the Cancer Genetics Studies Consortium. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. JAMA 1997;277:997-1003.
46. Austoker J. Screening and self examination for breast cancer. BMJ 1994;309:168-74.
47. Semiglazov VF, Moiseyenko VM, Bavli JL, et al. The role of breast self-examination in early breast cancer detection (results of the 5-years USSR/WHO randomized study in Leningrad). Eur J Epidemiol 1992;8:498-502.
48. Baines CJ. Reflections on breast self-examination. J Natl Cancer Inst 1997;89:339-40.
49. Hill D, White V, Jolley D, Mapperson K. Self examination of the breast: is it beneficial? Meta-analysis of studies investigating breast self-examination and extent of disease in patients with breast cancer. BMJ 1988;297:271-5.
50. Cole P, Austin H. Breast self-examination: an adjuvant to early cancer detection. Am J Public Health 1981;71:572-4.
51. Harvey BJ, Miller AB, Baines CJ, Corey PN. Effect of breast self-examination techniques on the risk of death from breast cancer. Can Med Assoc J 1997;157:1205-12.
52. Baines CJ, Miller AB. Mammography versus clinical examination of the breasts. Monogr Natl Cancer Inst 1997;22:125-9.
53. Fletcher SW, Black W, Harris R, Rimer BK, Shapiro S. Report of the International Workshop on Screening for Breast Cancer. J Natl Cancer Inst 1993;85:1644-56.
54. Ferguson JH. National Institutes of Health Consensus Development Conference statement: breast cancer screening for women ages 40-49, January 21-23, 1997. J Natl Cancer Inst 1997;89:1015-25.
55. Bjurstam N, Björneld L, Duffy SW, et al. The Gothenberg Breast Screening Trial: first results on mortality, incidence, and mode of detection for women ages 39-49 years at randomization. Cancer 1997;80:2091-9.
56. Smart CR, Hendrick RE, Rutledge JH, Smith RA. Benefit of mammography screening in women ages 40 to 49 years. Current evidence from randomized controlled trials. Cancer 1995;75:1619-26.
57. de Koning HJ, Boer R, Warmerdam PG, Beemsterboer PMM, van der Maas PJ. Quantitative interpretation of age-specific mortality reductions from the Swedish breast cancer-screening trials. J Natl Cancer Inst 1995;87:1217-23.
58. Chakraborty R, Little MP, Sankaranarayanan K. Cancer predisposition, radiosensitivity and the risk of radiation-induced cancers. IV. Prediction of risks in relatives of cancer-predisposed individuals. Radiat Res 1998;149:493-507.
59. Kerlikowske K, Grady D, Barclay J, Sickles EA, Eaton A, Ernster V. Positive predictive value of screening mammography by age and family history of breast cancer. JAMA 1993;270:2444-50.
60. 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.
61. American College of Physicians. Screening for ovarian cancer: recommendations and rationale. Ann Intern Med 1995;121:141-2.
62. Gallion HH, Park R. Developing intervention/prevention strategies for individuals at high risk of developing hereditary ovarian cancer. Monogr Natl Cancer Inst 1995;17:103-6.
63. NIH Consensus Development Panel on Ovarian Cancer. Ovarian cancer: screening, treatment and follow up. JAMA 1995;273:491-7.
64. The prostate question, unanswered still [editorial]. Lancet 1997;349:443.
65. Fintor L, Hall I. Prostate cancer meeting confronts controversies. J Natl Cancer Inst 1995;87:1743-4.
66. Chodak GW, Thisted RA, Gerber GS, et al. Results of conservative management of clinically localized prostate cancer. N Engl J Med 1994;330:242-8.
67. Winawer SJ, Fletcher RH, Miller L, et al. Colorectal cancer screening: clinical guidelines and rationale. Gastroenterology 1997;112:594-642.
68. Hardcastle JD, Chamberlain JO, Robinson MHE, et al. Randomised controlled trial of faecal-occult-blood screening for colorectal cancer. Lancet 1996;348:1472-7.
69. Kronborg O, Fenger C, Olsen J, Jorgensen OD, Sondergaard O. Randomised study of screening for colorectal cancer with faecal-occult-blood test. Lancet 1996;348:1467-71.
70. Mandel JS, Bond JH, Church TR, et al. Reducing mortality from colorectal cancer by screening for fecal occult blood. N Engl J Med 1993;328:1365-71.
71. Selby JV, Friedman GD, Quesenberry CP Jr, Weiss NS. A case-control study of screening sigmoidoscopy and mortality from colorectal cancer. N Engl J Med 1992;326:653-7.
72. Selby JV, Friedman GD, Newcomb PA, Weiss NS. Re: Case-control studies of colorectal cancer mortality: is the case made for screening sigmoidoscopy? J Natl Cancer Inst 1993;85:503-4.
73. Stefanek ME. Bilateral prophylactic mastectomy: issues and concerns. J Natl Cancer Inst 1995;17:37-42.
74. Eldar S, Meguid MM, Beatty JD. Cancer of the breast after prophylactic subcutaneous mastectomy. Am J Surg 1984;148:692-3.
75. Goodnight JE Jr, Quagliana JM, Morton DL. Failure of subcutaneous mastectomy to prevent the development of breast cancer. J Surg Oncol 1984;26:198-201.
76. Schrag D, Kuntz KM, Garber JE, Weeks JC. Decision analysis - effects of prophylactic mastectomy and oophorectomy on life expectancy among women with BRCA1 or BRCA2 mutations. N Engl J Med 1997;336:1465-71.
77. Grann VR, Panageas KS, Whang W, Antman KH, Neugut AI. Decision analysis of prophylactic mastectomy and oophorectomy in BRCA1-positive and BRCA2-positive patients. J Clin Oncol 1998;16:979-85.
78. Gail MH, Brinton LA, Byar DP, et al. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst 1989;81:1879-86.
79. Fisher B, Costantino JP, Wickerham DL, et al. Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. J Natl Cancer Inst 1998;90:1371-88.
80. Powles T, Eeles R, Ashley S, et al. Interim analysis of the incidence of breast cancer in the Royal Marsden Hospital tamoxifen randomised chemoprevention trial. Lancet 1998;352:98-101.
81. Veronesi U, Maisonneuve P, Costa A, et al. Prevention of breast cancer with tamoxifen: preliminary findings from the Italian randomised trial among hysterectomised women. Lancet 1998;352:93-7.
82. Pritchard KI. Is tamoxifen effective in prevention of breast cancer? [commentary]. Lancet 1998;352:80-1.
83. Ault A. Tamoxifen prevention claim will not be allowed in USA [News item]. Lancet 1998;352:883.
84. Greenwald P, Kelloff G, Burch-Whitman C, Kramer BS. Chemoprevention. CA Cancer J Clin 1995;45:31-49.
85. Malone KE, Daling JR, Weiss NS, McKnight B, White E, Voigt LF. Family history and survival of young women with invasive breast carcinoma. Cancer 1996;78:1417-25.
86. 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.
87. 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.
88. Ansquer Y, Gautier C, Fourquet A, Asselain B, Stoppa-Lyonnet D. Survival in early-onset BRCA1 breast-cancer patients. Lancet 1998;352:541.
89. Breast Cancer Linkage Consortium. Pathology of familial breast cancer: differences between breast cancers in carriers of BRCAl1 or BRCA2 mutations and sporadic cases. Lancet 1997;349:1505-10.
90. Karp SE, Tonin PN, Begin LR, et al. Influence of BRCA1 mutations on nuclear grade and estrogen receptor status of breast carcinoma in Ashkenazi Jewish women. Cancer 1997;80:435-41.
91. Kramer BS, Screening Editorial Board of the Physician Data Query. NCI state of the art statements on cancer screening. In: Greenwald P, Kramer BS, Weed DL, editors. Cancer Prevention and Control. New York: Marcel Dekker, 1995:719-22.