Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: Systematic evidence review for the U.S. Preventive Services Task Force

Annals of Internal Medicine

Volumn 143, Issue 5, 2005, Pages

  Nelson, Heidi D ^a   Huffman, Laurie Hoyt ^a   Fu, Rongwei ^a   Harris, Emily L ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; ESTROGEN RECEPTOR; PLACEBO; RALOXIFENE; TAMOXIFEN;

BREAST CANCER; CANCER CHEMOTHERAPY; CANCER MORTALITY; CANCER PREVENTION; CANCER SCREENING; CANCER SUSCEPTIBILITY; CATARACT; CLINICAL TRIAL; DEEP VEIN THROMBOSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC IMAGING; ECHOGRAPHY; ENDOMETRIUM CANCER; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; HIGH RISK POPULATION; HOT FLUSH; HUMAN; LUNG EMBOLISM; MAMMOGRAPHY; MASTECTOMY; META ANALYSIS; MOOD DISORDER; MORTALITY; NAIL DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONCOGENE; OVARIECTOMY; OVARY CANCER; PRACTICE GUIDELINE; PREVENTIVE HEALTH SERVICE; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; STROKE; SYSTEMATIC REVIEW; THROMBOEMBOLISM; UNITED STATES; VAGINA BLEEDING; VAGINA DISCHARGE;

EID: 24644490720     PISSN: 00034819     EISSN: None     Source Type: Journal    
DOI: 10.7326/0003-4819-143-5-200509060-00012     Document Type: Review

References (188)

1. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266:66-71. [PMID: 7545954]
2. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995;378:789-92. [PMID: 8524414]
3. Brose MS, Rebbeck TR, Calzone KA, Stopfer JE, Nathanson KL, Weber BL. Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst. 2002;94:1365-72. [PMID: 12237282]
4. Thompson D, Easton DF. Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst. 2002;94:1358-65. [PMID: 12237281]
5. 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. [PMID: 7825587]
6. Ford D, Easton DF. The genetics of breast and ovarian cancer. Br J Cancer. 1995;72:805-12. [PMID: 7547224]
7. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994; 343:692-5. [PMID: 7907678]
8. Easton DF, Bishop DT, Ford D, Crockford GP. Genetic linkage analysis in familial breast and ovarian cancer results from 214 families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1993;52:678-701. [PMID: 8460634]
9. Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, 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. [PMID: 9145676]
10. Roa BB, Boyd AA, Volcik K, Richards CS. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet. 1996; 14:185-7. [PMID: 8841191]
11. Neuhausen S, Gilewski T, Norton L, Tran T, McGuire P, Swensen J, et al. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet. 1996;13:126-8. [PMID: 8673092]
12. Peelen T, van Vliet M, Petrij-Bosch A, Mieremet R, Szabo C, van den Ouweland AM, et al. A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am J Hum Genet. 1997;60:1041-9. [PMID: 9150151]
13. Thorlacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, 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. [PMID: 8673089]
14. Arason A, Jonasdottir A, Barkardottir RB, Bergthorsson JT, Teare MD, Easton DF, et al. A population study of mutations and LOH at breast cancer gene loci in tumours from sister pairs: two recurrent mutations seem to account for all BRCA1/BRCA2 linked breast cancer in Iceland. J Med Genet. 1998;35: 446-9. [PMID: 9643283]
15. Einbeigi Z, Bergman A, Kindblom LG, Martinsson T, Meis-Kindblom JM, Nordling M, et al. A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer. Eur J Cancer. 2001;37:1904-9. [PMID: 11576847]
16. Wooster R, Weber BL. Breast and ovarian cancer. N Engl J Med. 2003;348: 233947. [PMID: 12788999]
17. Lindor NM, Greene MH. The concise handbook of family cancer syndromes. Mayo Familial Cancer Program. J Natl Cancer Inst. 1998;90:1039-71. [PMID: 9672254]
18. Liede A, Karlan BY, Narod SA. Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol. 2004; 22:73542. [PMID: 14966099]
19. American College of Medical Genetics Professional Practice and Guidelines Committee. Genetic susceptibility to breast and ovarian cancer: assessment, counseling, and testing guidelines executive summary. 1999. Accessed at www .health.state.ny.us/nysdoh/cancer/obcancer/contents.htm on 18 July 2005.
20. Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility. Adopted on February 20, 1996. J Clin Oncol. 1996;14: 1730-6; discussion 173740. [PMID: 8622094]
21. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol. 2002;20:1480-90. [PMID: 11896095]
22. Srivastava A, McKinnon W, Wood ME. Risk of breast and ovarian cancer in women with strong family histories. Oncology (Williston Park). 2001;15:889-902. [PMID: 11125943]
23. Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, 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. [PMID: 9333265]
24. Couch FJ, DeShano ML, Blackwood MA, Calzone K, Stopfer J, Campeau L, et al. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med. 1997;336:1409-15. [PMID: 9145677]
25. Genetic counseling. Am J Hum Genet. 1975;27:240-2. [PMID: 1124768]
26. Skinner CS, Schildkraut JM, Berry D, Calingaert B, Marcom PK, Sugarman J, et al. Pre-counseling education materials for BRCA testing: does tailoring make a difference? Genet Test. 2002;6:93-105. [PMID: 12215248]
27. Bowen DJ, Burke W, McTiernan A, Yasui Y, Andersen MR. Breast cancer risk counseling improves women's functioning. Patient Educ Couns. 2004;53: 79-86. [PMID: 15062908]
28. Bowen DJ, Burke W, Yasui Y, McTiernan A, McLeran D. Effects of risk counseling on interest in breast cancer genetic testing for lower risk women. Genet Med. 2002;4:359-65. [PMID: 12394349]
29. Burke W, Culver JO, Bowen D, Lowry D, Durfy S, McTiernan A, et al. Genetic counseling for women with an intermediate family history of breast cancer. Am J Med Genet. 2000;90:361-8. [PMID: 10706356]
30. Cull A, Miller H, Porterfield T, Mackay J, Anderson ED, Steel CM, et al. The use of videotaped information in cancer genetic counselling: a randomized evaluation study. Br J Cancer. 1998;77:830-7. [PMID: 9514066]
31. Lerman C, Hughes C, Benkendorf JL, Biesecker B, Kerner J, Willison J, et al. Racial differences in testing motivation and psychological distress following pretest education for BRCA1 gene testing. Cancer Epidemiol Biomarkers Prev. 1999;8:361-7. [PMID: 10207641]
32. Lerman C, Schwartz MD, Miller SM, Daly M, Sands C, Rimer BK. A randomized trial of breast cancer risk counseling: interacting effects of counseling, educational level, and coping style. Health Psychol. 1996;15:75-83. [PMID: 8681923]
33. Lerman C, Lustbader E, Rimer B, Daly M, Miller S, Sands C, et al. Effects of individualized breast cancer risk counseling: a randomized trial. J Natl Cancer Inst. 1995;87:286-92. [PMID: 7707420]
34. Myriad Genetics. Accessed at www.myriadtests.com/home.htm on 30 April 2004.
35. Unger MA, Nathanson KL, Calzone K, Antin-Ozerkis D, Shih HA, Martin AM, et al. Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing. Am J Hum Genet. 2000;67:841-50. [PMID: 10978226]
36. U.S. Preventive Services Task Force. Screening for breast cancer: recommendations and rationale. Ann Intern Med. 2002;137:344-6. [PMID: 12204019].
37. Burke W, Daly M, Garber J, Botkin J, Kahn MJ, Lynch P, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA. 1997;277:997-1003. [PMID: 9091675]
38. U.S. Preventive Services Task Force. Recommendations and rationale. Screening for ovarian cancer. Accessed at www.ahrq.gov/clinic/3rduspstf /ovariancan/ovcanrs.htm on 19 October 2004.
39. NIH consensus conference. Ovarian cancer. Screening, treatment, and follow-up. NIH Consensus Development Panel on Ovarian Cancer. JAMA. 1995; 273:491-7. [PMID: 7837369]
40. U.S. Preventive Services Task Force. Chemoprevention of breast cancer: recommendations and rationale. Ann Intern Med. 2002;137:56-8. [PMID: 12093249]
41. Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. Br J Cancer. 2000;83:1301-8. [PMID: 11044354]
42. Antoniou AC, Pharoah PD, McMullan G, Day NE, Stratton MR, Peto J, et al. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer. 2002;86:76-83. [PMID: 11857015]
43. Peto J, Collins N, Barfoot R, Seal S, Warren W, Rahman N, et al. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst. 1999;91:943-9. [PMID: 10359546]
44. Antoniou AC, Gayther SA, Stratton JF, Ponder BA, Easton DF. Risk models for familial ovarian and breast cancer. Genet Epidemiol. 2000;18:173-90. [PMID: 10642429]
45. Bowen D, Christensen C, Powers D, Graves D, Anderson C. Effects of counseling and ethnic identity on perceived risk and cancer worry in African American women. Journal of Clinical Psychology Medical Settings. 1998;5:365-79.
46. Lerman C, Trock B, Rimer BK, Jepson C, Brody D, Boyce A. Psychological side effects of breast cancer screening. Health Psychol. 1991;10:259-67. [PMID: 1915212]
47. Genetic testing for breast and ovarian cancer susceptibility: evaluating direct-to-consumer marketing-Atlanta, Denver, Raleigh-Durham, and Seattle, 2003. MMWR Morb Mortal Wkly Rep. 2004;53:603-6. [PMID: 15254451]
48. Nelson HD, Huffman L, Fu R, Harris E, Walker M, Bougatsos C. Genetic risk assessment and testing for breast and ovarian cancer susceptibility. Evidence Synthesis (Prepared by the Oregon Health & Science University Evidence-based Practice Center under contract 290-97-0018). Rockville, MD: Agency for Healthcare Research and Quality; 2005 [In press].
49. Harris RP, Helfand M, Woolf SH, Lohr KN, Mulrow CD, Teutsch SM, et al. Current methods of the US Preventive Services Task Force: a review of the process. Am J Prev Med. 2001;20:21-35. [PMID: 11306229]
50. 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. [PMID: 11705483]
51. Ries LA, Eisner MP, Kosary CL, Hankey BF, Miller BA, Clegg L, et al. SEER cancer statistics review, 1975-2001. Bethesda, MD: National Cancer Institute. Accessed at http://seer.cancer.gov/csr/1975_2001 on 19 October 2004.
52. Cancer Genetics Network. Accessed at http://epi.grants.cancer.gov/CGN/ on 20 March 2005.
53. DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials. 1986;7:177-88. [PMID: 3802833]
54. Murff HJ, Spigel DR, Syngal S. Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history. JAMA. 2004;292:1480-9. [PMID: 15383520]
55. Kerber RA, Slattery ML. Comparison of self-reported and database-linked family history of cancer data in a case-control study. Am J Epidemiol. 1997;146: 244-8. [PMID: 9247008]
56. Domchek SM, Eisen A, Calzone K, Stopfer J, Blackwood A, Weber BL. Application of breast cancer risk prediction models in clinical practice. J Clin Oncol. 2003;21:593-601. [PMID: 12586794]
57. Frank TS, Manley SA, Olopade OI, Cummings S, Garber JE, Bernhardt B, et al. Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J Clin Oncol. 1998;16:2417-25. [PMID: 9667259]
58. Blackwood MA, Yang H, Margolin A, et al. Predicted probability of breast cancer susceptibility gene mutations. Breast Cancer Research and Treatment. 2001;69:223.
59. Berry DA, 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;89:227-38. [PMID: 9017003]
60. Berry DA, Iversen ES Jr, Gudbjartsson DF, Hiller EH, Garber JE, Peshkin BN, et al. BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol. 2002;20:2701-12. [PMID: 12039933]
61. Parmigiani G, Berry D, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet. 1998; 62:145-58. [PMID: 9443863]
62. Euhus DM, Smith KC, Robinson L, Stucky A, Olopade OI, Cummings S, et al. Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO. J Natl Cancer Inst. 2002;94:844-51. [PMID: 12048272]
63. Euhus D. Risk modeling in breast cancer. Breast J. 2004;10 Suppl 1:S10-2. [PMID: 14984482]
64. CancerGene with BRCAPRO. Accessed at http://astor.som.jhmi.edu/Bayes- Mendel/brcapro.html on 30 April 2004.
65. Cyrillic Software. User information. Accessed at www.cyrillicsoftware.com on 30 April 2004.
66. Tyrer J, Duffy SW, Cuzick J. A breast cancer prediction model incorporating familial and personal risk factors. Stat Med. 2004;23:1111-30. [PMID: 15057881]
67. Gilpin CA, Carson N, Hunter AG. A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center. Clin Genet. 2000;58:299-308. [PMID: 11076055]
68. Evans DG, Eccles DM, Rahman N, Young K, Bulman M, Amir E, et al. A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. J Med Genet. 2004;41:474-80. [PMID: 15173236]
69. Emery J, Walton R, Coulson A, Glasspool D, Ziebland S, Fox J. Computer support for recording and interpreting family histories of breast and ovarian cancer in primary care (RAGs): qualitative evaluation with simulated patients. BMJ. 1999;319:32-6. [PMID: 10390458]
70. Emery J, Walton R, Murphy M, Austoker J, Yudkin P, Chapman C, et al. Computer support for interpreting family histories of breast and ovarian cancer in primary care: comparative study with simulated cases. BMJ. 2000;321:28-32. [PMID: 10875832]
71. Progeny Software. User information. Accessed at www.progeny2000.com on 20 June 2004.
72. Coulson AS, Glasspool DW, Fox J, Emery J. RAGs: a novel approach to computerized genetic risk assessment and decision support from pedigrees. Methods Inf Med. 2001;40:315-22. [PMID: 11552344]
73. Statement of the American Society of Clinical Oncology. Genetic testing for cancer susceptibility: indications for genetic testing. SEER Data. Accessed at http://seer.cancer.gov/studies/epidemiology/study18.html on 30 March 2005.
74. Mouchawar J, Valentine Goins K, Somkin C, Puleo E, Hensley Alford S, Geiger AM, et al. Guidelines for breast and ovarian cancer genetic counseling referral: adoption and implementation in HMOs. Genet Med. 2003;5:444-50. [PMID: 14614396]
75. Breast cancer risk reduction. Clinical Practice Guidelines in Oncology. National Comprehensive Cancer Network. Accessed at www.nccn.org/professionals /physician_gls/PDF/breast.pdf on 27 June 2005.
76. Møller P, Evans G, Haites N, Vasen H, Reis MM, Anderson E, et al. Guidelines for follow-up of women at high risk for inherited breast cancer: consensus statement from the Biomed 2 Demonstration Programme on Inherited Breast Cancer. Dis Markers. 1999;15:207-11. [PMID: 10595280]
77. Fries MH, Holt C, Carpenter I, Carter CL, Daniels J, Flanagan J, et al. Guidelines for evaluation of patients at risk for inherited breast and ovarian cancer: recommendations of the Department of Defense Familial Breast/Ovarian Cancer Research Project. Mil Med. 2002;167:93-8. [PMID: 11873549]
78. Lucassen A, Watson E, Harcourt J, Rose P, O'Grady J. Guidelines for referral to a regional genetics service: GPs respond by referring more appropriate cases. Fam Pract. 2001;18:135-40. [PMID: 11264262]
79. Elwyn G, Iredale R, Gray J. Reactions of GPs to a triage-controlled referral system for cancer genetics. Fam Pract. 2002;19:65-71. [PMID: 11818352]
80. Genetic susceptibility to breast and ovarian cancer: assessment, counseling and testing guidelines. New York State Department of Health. Accessed at www .health.state.ny.us/nysdoh/cancer/obcancer/pp6-12.htm on 18 March 2004.
81. National Breast Cancer Centre. Advice about familial aspects of breast cancer and ovarian cancer - a guide for health professionals. Sydney: National Breast Cancer Center. Accessed at www.nbcc.org.au/bestpractice/resources /BOG_BreastOvarianGuideSimpl.pdf on 30 March 2005.
82. 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. [PMID: 10321400]
83. 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;37:203-9. [PMID: 10699057]
84. Hampel H, Sweet K, Westman JA, Offit K, Eng C. Referral for cancer genetics consultation: a review and compilation of risk assessment criteria. J Med Genet. 2004;41:81-91. [PMID: 14757853]
85. Lobb E, Butow P, Meiser B, Barratt A, Kirk J, Gattas M, et al. The use of audiotapes in consultations with women from high risk breast cancer families: a randomised trial [Letter]. J Med Genet. 2002;39:697-703. [PMID: 12205117]
86. Watson M, Duvivier V, Wade Walsh M, Ashley S, Davidson J, Papaikonomou M, et al. Family history of breast cancer, what do women understand and recall about their genetic risk? J Med Genet. 1998;35:731-8. [PMID: 9733031]
87. Green MJ, Peterson SK, Baker MW, Harper GR, Friedman LC, Rubinstein WS, et al. Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility: a randomized controlled trial. JAMA. 2004;292:442-52. [PMID: 15280342]
88. Meiser B, Halliday JL. What is the impact of genetic counselling in women at increased risk of developing hereditary breast cancer? A meta-analytic review. Soc Sci Med. 2002;54:1463-70. [PMID: 12061481]
89. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, 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. [PMID: 12677558]
90. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, 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. [PMID: 9497246]
91. Hopper JL, Southey MC, Dite GS, Jolley DJ, Giles GG, McCredie MR, et al. Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study. Cancer Epidemiol Biomarkers Prev. 1999;8:741-7. [PMID: 10498392]
92. Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet. 2001;68: 700-10. [PMID: 11179017]
93. Eng C, Brody LC, Wagner TM, Devilee P, Vijg J, Szabo C, et al. Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1. J Med Genet. 2001;38: 824-33. [PMID: 11748305]
94. Gayther SA, Mangion J, Russell P, Seal S, Barfoot R, Ponder BA, et al. Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat Genet. 1997;15:103-5. [PMID: 8988179]
95. King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003;302;643-6. [PMID: 14576434]
96. Moslehi R, Chu W, Karlan B, Fishman D, Risch H, Fields A, et al. BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer. Am J Hum Genet. 2000;66:1259-72. [PMID: 10739756]
97. Satagopan JM, Offit K, Foulkes W, Robson ME, Wacholder S, Eng CM, et al. The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. Cancer Epidemiol Biomarkers Prev. 2001;10:467-73. [PMID: 11352856]
98. Begg CB. On the use of familial aggregation in population-based case probands for calculating penetrance. J Natl Cancer Inst. 2002;94:1221-6. [PMID: 12189225]
99. Eccles DM, Simmonds P, Goddard J, Coultas M, Lalloo F, Evans G, et al. Management of hereditary breast cancer. European Familial Breast Cancer Collaborative Group. Dis Markers. 1999;15:187-9. [PMID: 10595276]
100. 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. [PMID: 8531967]
101. Malone KE, Daling JR, Neal C, Suter NM, O'Brien C, Cushing-Haugen K, et al. Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. Cancer. 2000;88:1393-402. [PMID: 10717622]
102. Anton-Culver H, Cohen PF, Gildea ME, Ziogas A. Characteristics of BRCA1 mutations in a population-based case series of breast and ovarian cancer. Eur J Cancer. 2000;36:1200-8. [PMID: 10882857]
103. Stratton JF, Gayther SA, Russell P, Dearden J, Gore M, Blake P, et al. Contribution of BRCA1 mutations to ovarian cancer. N Engl J Med. 1997;336: 1125-30. [PMID: 9099656]
104. Gayther SA, Russell P, Harrington P, Antoniou AC, Easton DF, Ponder BA. The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer, no evidence for other ovarian cancer-susceptibility genes. Am J Hum Genet. 1999;65:1021-9. [PMID: 10486320]
105. Bish A, Sutton S, Jacobs C, Levene S, Ramirez A, Hodgson S. No news is (not necessarily) good news: impact of preliminary results for BRCA1 mutation searches. Genet Med. 2002;4:353-8. [PMID: 12394348]
106. Brain K, Norman P, Gray J, Rogers C, Mansel R, Harper P. A randomized trial of specialist genetic assessment: psychological impact on women at different levels of familial breast cancer risk. Br J Cancer. 2002;86:233-8. [PMID: 11870512]
107. Friedman LC, Webb JA, Richards CS, Lynch GR, Kaplan AL, Brunicardi FC, et al. Psychological impact of receiving negative BRCA1 mutation test results in Ashkenazim. Genet Med. 1999;1:74-9. [PMID: 11336456]
108. Hopwood P, Keeling F, Long A, Pool C, Evans G, Howell A. Psychological support needs for women at high genetic risk of breast cancer: some preliminary indicators. Psychooncology. 1998;7:402-12. [PMID: 9809331]
109. Lerman C, Hughes C, Lemon SJ, Main D, Snyder C, Durham C, et al. What you don't know can hurt you: adverse psychologic effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing. J Clin Oncol. 1998;16:1650-4. [PMID: 9586874]
110. Lobb EA, Butow PN, Barratt A, Meiser B, Gaff C, Young MA, et al. Communication and information-giving in high-risk breast cancer consultations: influence on patient outcomes. Br J Cancer. 2004;90:321-7. [PMID: 14735171]
111. Meiser B, Butow P, Friedlander M, Barratt A, Schnieden V, Watson M, et al. Psychological impact of genetic testing in women from high-risk breast cancer families. Eur J Cancer. 2002;38:2025-31. [PMID: 12376208]
112. Smith KR, West JA, Croyle RT, Botkin JR. Familial context of genetic testing for cancer susceptibility: moderating effect of siblings' test results on psychological distress one to two weeks after BRCA1 mutation testing. Cancer Epidemiol Biomarkers Prev. 1999;8:385-92. [PMID: 10207644]
113. Watson M, Lloyd S, Davidson J, Meyer L, Eeles R, Ebbs S, et al. The impact of genetic counselling on risk perception and mental health in women with a family history of breast cancer. Br J Cancer. 1999;79:868-74. [PMID: 10070883]
114. Lerman C, Peshkin BN, Hughes C, Issacs C. Family disclosure in genetic testing for cancer susceptibility; determinants and consequence. Journal of Health Care Law and Policy. 1998;1:353-72.
115. Brekelmans CT, Seynaeve C, Bartels CC, Tilanus-Linthorst MM, Meijers-Heijboer EJ, Crepin CM, et al. Effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial risk. J Clin Oncol. 2001;19:924-30. [PMID: 11181654]
116. Chart PL, Franssen E. Management of women at increased risk for breast cancer: preliminary results from a new program. CMAJ. 1997;157:1235-42. [PMID: 9361645]
117. Gui GP, Hogben RK, Walsh G, A'Hern R, Eeles R. The incidence of breast cancer from screening women according to predicted family history risk: does annual clinical examination add to mammography? Eur J Cancer. 2001;37: 1668-73. [PMID: 11527694]
118. Kollias J, Sibbering DM, Blamey RW, Holland PA, Obuszko Z, Wilson AR, et al. Screening women aged less than 50 years with a family history of breast cancer. Eur J Cancer. 1998;34:878-83. [PMID: 9797701]
119. Lai MS, Yen MF, Kuo HS, Koong SL, Chen TH, Duffy SW. Efficacy of breast-cancer screening for female relatives of breast-cancer-index cases: Taiwan multicentre cancer screening (TAMCAS). Int J Cancer. 1998;78:21-6. [PMID: 9724089]
120. Lalloo F, Boggis CR, Evans DG, Shenton A, Threlfall AG, Howell A. Screening by mammography, women with a family history of breast cancer. Eur J Cancer. 1998;34:937-40. [PMID: 9797712]
121. Møller P, Maehle L, Heimdal K, Dørum A, Tretli S, Helgerud P, et al. Inherited breast carcinoma-prospective findings in 1,194 women at risk. Acta Oncol. 1996;35 Suppl 8:7-11. [PMID: 9073043]
122. Saetersdal A, Dørum A, Heimdal K, Helgerud P, Sager EM, Bøhler P, et al. Inherited predisposition to breast carcinoma. Results of first round examination of 537 women at risk. Anticancer Res. 1996;16:1989-92. [PMID: 8712731]
123. Tilanus-Linthorst MM, Bartels CC, Obdeijn AI, Oudkerk M. Earlier detection of breast cancer by surveillance of women at familial risk. Eur J Cancer. 2000;36:514-9. [PMID: 10717529]
124. Warner E, Plewes DB, Hill KA, Causer PA, Zubovits JT, Jong RA, et al. Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA. 2004;292:1317-25. [PMID: 15367553]
125. Komenaka IK, Ditkoff BA, Joseph KA, Russo D, Gorroochurn P, Ward M, et al. The development of interval breast malignancies in patients with BRCA mutations. Cancer. 2004;100:2079-83. [PMID: 15139048]
126. Scheuer L, Kauff N, Robson M, Kelly B, Barakat R, Satagopan J, et al. Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. J Clin Oncol. 2002;20:1260-8. [PMID: 11870168]
127. Meijers-Heijboer H, van Geel B, van Putten WL, Henzen-Logmans SC, Seynaeve C, Menke-Pluymers MB, et al. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med. 2001;345:159-64. [PMID: 11463009]
128. Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium. Lancet. 1997;349:1505-10. [PMID: 9167459]
129. Fracheboud J, de Koning HJ, Beemsterboer PM, Boer R, Hendriks JH, Verbeek AL, et al. Nation-wide breast cancer screening in The Netherlands: results of initial and subsequent screening 1990-1995. National Evaluation Team for Breast Cancer Screening. Int J Cancer. 1998;75:694-8. [PMID: 9495236]
130. Day NE, Williams DR, Khaw KT. Breast cancer screening programmes: the development of a monitoring and evaluation system. Br J Cancer. 1989;59: 954-8. [PMID: 2736233]
131. Bourne TH, Campbell S, Reynolds KM, Whitehead MI, Hampson J, Royston P, et al. Screening for early familial ovarian cancer with transvaginal ultrasonography and colour blood flow imaging. BMJ. 1993;306:1025-9. [PMID: 8490496]
132. 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. [PMID: 9059297]
133. Cuzick J, Forbes J, Edwards R, Baum M, Cawthorn S, Coates A, et al. First results from the International Breast Cancer Intervention Study (IBIS-1): a randomised prevention trial. Lancet. 2002;360:817-24. [PMID: 12243915]
134. Fisher B, Costantino JP, Wickerham DL, Redmond CK, Kavanah M, Cronin WM, et al. Tamoxifen for prevention of breast cancen report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. J Natl Cancer Inst. 1998;90:1371-88. [PMID: 9747868]
135. Powles T, Eeles R, Ashley S, Easton D, Chang J, Dowsett M, et al. Interim analysis of the incidence of breast cancer in the Royal Marsden Hospital tamoxifen randomised chemoprevention trial. Lancet. 1998;352:98-101. [PMID: 9672274]
136. Veronesi U, Maisonneuve P, Costa A, Sacchini V, Maltoni C, Robertson C, et al. Prevention of breast cancer with tamoxifen: preliminary findings from the Italian randomised trial among hysterectomised women. Italian Tamoxifen Prevention Study. Lancet. 1998;352:93-7. [PMID: 9672273]
137. Cummings SR, Eckert S, Krueger KA, Grady D, Powles TJ, Cauley JA, et al. The effect of raloxifene on risk of breast cancer in postmenopausal women: results from the MORE randomized trial. Multiple Outcomes of Raloxifene Evaluation. JAMA. 1999;281:2189-97. [PMID: 10376571]
138. Phase III randomized study of tamoxifen and raloxifene (STAR) for the prevention of breast cancer. 2004. Accessed at www.cancer.gov/clinicaltrials/ view_clinicaltrials.aspx?version=healthprofessional&cdrid= 67081&protocolsearchid =884140 on 20 April 2004.
139. Wickerham DL. Tamoxifen versus raloxifene in the prevention of breast cancer. Eur J Cancer. 2002;38 Suppl 6:S20-1. [PMID: 12409060]
140. King MC, Wieand S, Hale K, Lee M, Walsh T, Owens K, et al. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. JAMA. 2001;286:2251-6. [PMID: 11710890]
141. Cauley JA, Norton L, Lippman ME, Eckert S, Krueger KA, Purdie DW, et al. Continued breast cancer risk reduction in postmenopausal women treated with raloxifene: 4-year results from the MORE trial. Multiple outcomes of raloxifene evaluation. Breast Cancer Res Treat. 2001;65:125-34. [PMID: 11261828]
142. Cauley JA, Lucas FL, Kuller LH, Vogt MT, Browner WS, Cummings SR. Bone mineral density and risk of breast cancer in older women: the study of osteoporotic fractures. Study of Osteoporotic Fractures Research Group. JAMA. 1996;276:1404-8. [PMID: 8892715]
143. Cauley JA, Lucas FL, Kuller LH, Stone K, Browner W, Cummings SR. Elevated serum estradiol and testosterone concentrations are associated with a high risk for breast cancer. Study of Osteoporotic Fractures Research Group. Ann Intern Med. 1999;130:270-7. [PMID: 10068384]
144. Day R. Quality of life and tamoxifen in a breast cancer prevention trial: a summary of findings from the NSABP P-1 study. National Surgical Adjuvant Breast and Bowel Project. Ann N Y Acad Sci. 2001;949:143-50. [PMID: 11795346]
145. Gwinn ML, Lee NC, Rhodes PH, Layde PM, Rubin GL. Pregnancy, breast feeding, and oral contraceptives and the risk of epithelial ovarian cancer. J Clin Epidemiol. 1990;43:559-68. [PMID: 2348208]
146. Whittemore AS, Harris R, Itnyre J. Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case-control studies. II. Invasive epithelial ovarian cancers in white women. Collaborative Ovarian Cancer Group. Am J Epidemiol. 1992;136:1184-203. [PMID: 1476141]
147. Franceschi S, Parazzini F, Negri E, Booth M, La Vecchia C, Beral V, et al. Pooled analysis of 3 European case-control studies of epithelial ovarian cancer: III. Oral contraceptive use. Int J Cancer. 1991;49:61-5. [PMID: 1874572]
148. Narod SA, Risch H, Moslehi R, Dørum A, Neuhausen S, Olsson H, et al. Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group. N Engl J Med. 1998;339:424-8. [PMID: 9700175]
149. McGuire V, Felberg A, Mills M, Ostrow KL, DiCioccio R, John EM, et al. Relation of contraceptive and reproductive history to ovarian cancer risk in carriers and noncarriers of BRCA1 gene mutations. Am J Epidemiol. 2004;160: 613-8. [PMID: 15383404]
150. Grabrick DM, Hartmann LC, Cerhan JR, Vierkant RA, Therneau TM, Vachon CM, et al. Risk of breast cancer with oral contraceptive use in women with a family history of breast cancer. JAMA 2000;284:1791-8. [PMID: 11025831]
151. Ursin G, Henderson BE, Haile RW, Pike MC, Zhou N, Diep A, et al. Does oral contraceptive use increase the risk of breast cancer in women with BRCA1/BRCA2 mutations more than in other women? Cancer Res. 1997;57: 3678-81. [PMID: 9288771]
152. Klaren HM, van't Veer LJ, van Leeuwen FE, Rookus MA. Potential for bias in studies on efficacy of prophylactic surgery for BRCA1 and BRCA2 mutation. J Natl Cancer Inst. 2003;95:94l-7. [PMID: 12837830]
153. Kauff ND, Satagopan JM, Robson ME, Scheuer L, Hensley M, Hudis CA, et al. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med. 2002;346:1609-15. [PMID: 12023992]
154. 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. [PMID: 6330460]
155. Pennisi VR, Capozzi A. Subcutaneous mastectomy data: a final statistical analysis of 1500 patients. Aesthetic Plast Surg. 1989;13:15-21. [PMID: 2728994]
156. Paley PJ, Swisher EM, Garcia RL, Agoff SN, Greer BE, Peters KL, et al. Occult cancer of the fallopian tube in BRCA-1 germline mutation carriers at prophylactic oophorectomy: a case for recommending hysterectomy at surgical prophylaxis. Gynecol Oncol. 2001;80:176-80. [PMID: 11161856]
157. Aziz S, Kuperstein G, Rosen B, Cole D, Nedelcu R, McLaughlin J, et al. A generic epidemiological study of carcinoma of the fallopian tube. Gynecol Oncol. 2001;80:341-5. [PMID: 11263928]
158. Tobacman JK, Greene MH, Tucker MA, Costa J, Kase R, Fraumeni JF Jr. Intra-abdominal carcinomatosis after prophylactic oophorectomy in ovarian-cancer-prone families. Lancet. 1982;2:795-7. [PMID: 6126666]
159. Piver MS, Jishi MF, Tsukada Y, Nava G. Primary peritoneal carcinoma after prophylactic oophorectomy in women with a family history of ovarian cancer. A report of the Gilda Radner Familial Ovarian Cancer Registry. Cancer. 1993;71:2751-5. [PMID: 8467455]
160. Bandera CA, Muto MG, Schorge JO, Berkowitz RS, Rubin SC, Mok SC. BRCA1 gene mutations in women with papillary serous carcinoma of the peritoneum. Obstet Gynecol. 1998;92:596-600. [PMID: 9764635]
161. Hartmann LC, Schaid DJ, Woods JE, Crotty TP, Myers JL, Arnold PG, et al. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med. 1999;340:77-84. [PMID: 9887158]
162. Hartmann LC, Sellers TA, Schaid DJ, Frank TS, Soderberg CL, Sitta DL, et al. Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst. 2001;93:1633-7. [PMID: 11698567]
163. Rebbeck TR, Friebel T, Lynch HT, Neuhausen SL, van't Veer L, Garber JE, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol. 2004; 22:1055-62. [PMID: 14981104]
164. Contant CM, Menke-Pluijmers MB, Seynaeve C, Meijers-Heijboer EJ, Klijn JG, Verhoog LC, et al. Clinical experience of prophylactic mastectomy followed by immediate breast reconstruction in women at hereditary risk of breast cancer (HB(O)C) or a proven BRCA1 and BRCA2 germ-line mutation. Eur J Surg Oncol. 2002;28:627-32. [PMID: 12359199]
165. Struewing JP, Watson P, Easton DF, Ponder BA, Lynch HT, Tucker MA. Prophylactic oophorectomy in inherited breast/ovarian cancer families. J Natl Cancer Inst Monogr. 1995:33-5. [PMID: 8573450]
166. Rebbeck TR, Levin AM, Eisen A, Snyder C, Watson P, Cannon-Albright L, et al. Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J Natl Cancer Inst. 1999;91:1475-9. [PMID: 10469748]
167. Rebbeck TR. Prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers. Eur J Cancer. 2002;38 Suppl 6:515-7. [PMID: 12409058]
168. Brinton LA, Schairer C, Hoover RN, Fraumeni JF Jr. Menstrual factors and risk of breast cancer. Cancer Invest. 1988;6:245-54. [PMID: 3167610]
169. Meijer WJ, van Lindert AC. Prophylactic oophorectomy. Eur J Obstet Gynecol Reprod Biol. 1992;47:59-65. [PMID: 1426512]
170. Parazzini F, Braga C, La Vecchia C, Negri E, Acerboni S, Franceschi S. Hysterectomy, oophorectomy in premenopause, and risk of breast cancer. Obstet Gynecol. 1997;90:453-6. [PMID: 9277661]
171. Schairer C, Persson I, Falkeborn M, Naessen T, Troisi R, Brinton LA. Breast cancer risk associated with gynecologic surgery and indications for such surgery. Int J Cancer. 1997;70:150-4. [PMID: 9009152]
172. Eisen A, Rebbeck TR, Wood WC, Weber BL. Prophylactic surgery in women with a hereditary predisposition to breast and ovarian cancer. J Clin Oncol. 2000;18:1980-95. [PMID: 10784640]
173. Hankinson SE, Hunter DJ, Colditz GA, Willett WC, Stampfer MJ, Rosner B, et al. Tubal ligation, hysterectomy, and risk of ovarian cancer. A prospective study. JAMA. 1993;270:2813-8. [PMID: 8133619]
174. Rosenblatt KA, Thomas DB. Reduced risk of ovarian cancer in women with a tubal ligation or hysterectomy. The World Health Organization Collaborative Study of Neoplasia and Steroid Contraceptives. Cancer Epidemiol Biomarkers Prev. 1996;5:933-5. [PMID: 8922304]
175. Narod SA, Sun P, Ghadirian P, Lynch H, Isaacs C, Garber J, et al. Tubal ligation and risk of ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. Lancet. 2001;357:1467-70. [PMID: 11377596]
176. Steranek ME. Bilateral prophylactic mastectomy: issues and concerns. J Natl Cancer Inst Monogr. 1995:37-42. [PMID: 8573451]
177. Eisinger F, Reynier CJ, Chabal F, Luquet C, Moatti JP, Sobol H. Acceptable strategies for dealing with hereditary breast/ovarian cancer risk [Letter]. J Natl Cancer Inst. 1997;89:731. [PMID: 9168189]
178. Grana G, Daly M, Sands C. The role of prophylactic mastectomy in managing genetic risk [Abstract]. Breast Cancer Research and Treatment. 1994; 32(Suppl):72.
179. Lerman C, Narod S, Schulman K, Hughes C, Gomez-Caminero A, Bonney G, et al. BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. JAMA. 1996;275: 1885-92. [PMID: 8648868]
180. Frost MH, Schaid DJ, Sellers TA, Slezak JM, Arnold PG, Woods JE, et al. Long-term satisfaction and psychological and social function following bilateral prophylactic mastectomy. JAMA. 2000;284:319-24. [PMID: 10891963]
181. Hatcher MB, Fallowfield L, A'Hern R. The psychosocial impact of bilateral prophylactic mastectomy: prospective study using questionnaires and semistructured interviews. BMJ. 2001;322:76. [PMID: 11154619]
182. Tiller K, Meiser B, Butow P, Clifton M, Thewes B, Friedlander M, et al. Psychological impact of prophylactic oophorectomy in women at increased risk of developing ovarian cancer: a prospective study. Gynecol Oncol. 2002;86:212-9. [PMID: 12144830]
183. Nathorst-Böös J, von Schoultz B, Carlström K. Elective ovarian removal and estrogen replacement therapy-effects on sexual life, psychological well-being and androgen status. J Psychosom Obstet Gynaecol. 1993;14:283-93. [PMID: 8142982]
184. Dennerstein L, Wood C, Burrows GD. Sexual response following hysterectomy and oophorecomy. Obstet Gynecol. 1977;49:92-6. [PMID: 831167]
185. Everson SA, Matthews KA, Guzick DS, Wing RR, Kuller LH. Effects of surgical menopause on psychological characteristics and lipid levels: the Healthy Women Study. Health Psychol. 1995;14:435-43. [PMID: 7498115]
186. Fry A, Busby-Earle C, Rush R, Cull A. Prophylactic oophorectomy versus screening: psychosocial outcomes in women at increased risk of ovarian cancer. Psychooncology. 2001;10:231-41. [PMID: 11351375]
187. Humphrey LL, Helfand M, Chan BK, Woolf SH. Breast cancer screening: a summary of the evidence for the U.S. Preventive Services Task Force. Ann Intern Med. 2002;137:347-60. [PMID: 12204020]
188. Breast and ovarian cancer family registries. National Cancer Institute. Accessed at http://epi.grants.cancer.gov/BCFR/ on 20 March 2005.