Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. preventive services task force recommendation statement

Annals of Internal Medicine

Volumn 160, Issue 4, 2014, Pages 271-281

  Moyer, Virginia A ^a  

^a US Preventive Services Task Force   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; RALOXIFENE; TAMOXIFEN;

ADULT; ARTICLE; BREAST CANCER; CANCER SCREENING; FAMILY; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MALE BREAST CANCER; MIDDLE AGED; OVARY CANCER; PANCREAS CANCER; PERITONEUM CANCER; PREVENTIVE HEALTH SERVICE; PRIORITY JOURNAL; PROSTATE CANCER; RISK; RISK ASSESSMENT; UTERINE TUBE CARCINOMA; EARLY INTERVENTION; MASTECTOMY; ONCOGENE; OVARIECTOMY; SALPINGOOOPHORECTOMY;

BREAST NEOPLASMS; FALLOPIAN TUBE NEOPLASMS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MUTATION; OVARIAN NEOPLASMS; RISK ASSESSMENT;

EID: 84894265494     PISSN: 00034819     EISSN: 15393704     Source Type: Journal    
DOI: 10.7326/m13-2747     Document Type: Article

References (83)

1. Lindor NM, McMaster ML, Lindor CJ, Greene MH; National Cancer Institute, Division of Cancer Prevention, Community Oncology and Prevention Trials Research Group. Concise handbook of familial cancer susceptibility syndromes-second edition. J Natl Cancer Inst Monogr. 2008:1-93. [PMID: 18559331]
2. Howlader N, Noone AM, Krapcho M, Garshell J, Neyman N, Altekruse SF, et al, eds. SEER Cancer Statistics Review, 1975-2010. Bethesda, MD: National Cancer Institute; 2013. Accessed at http://seer.cancer.gov/csr/1975-2010 on 14 November 2013.
3. 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]
4. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25:1329-33. [PMID: 17416853]
5. Prevalence and penetrance of BRCA1 and BRCA2 mutations in a populationbased series of breast cancer cases. Anglian Breast Cancer Study Group. Br J Cancer. 2000;83:1301-8. [PMID: 11044354]
6. 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]
7. 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]
8. 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]
9. Nelson HD, Fu R, Goddard K, Priest Mitchell J, Okinaka-Hu L, Pappas M, et al. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCARelated Cancer: Systematic Review to Update the U.S. Preventive Services Task Force Recommendation. Evidence synthesis no. 2. AHRQ publication no. 12-05164-EF-1. Rockville, MD: Agency for Healthcare Research and Quality; 2013
10. Panchal SM, Ennis M, Canon S, Bordeleau LJ. Selecting a BRCA risk assessment model for use in a familial cancer clinic. BMC Med Genet. 2008;9:5 [PMID: 19102775]
11. Parmigiani G, Chen S, Iversen ES Jr, Friebel TM, Finkelstein DM, Anton-Culver H, et al. Validity of models for predicting BRCA1 and BRCA2 mutations. Ann Intern Med. 2007;147:441-50. [PMID: 17909205]
12. Oros KK, Ghadirian P, Maugard CM, Perret C, Paredes Y, Mes-Masson AM, et al. Application of BRCA1 and BRCA2 mutation carrier prediction models in breast and/or ovarian cancer families of French Canadian descent. Clin Genet. 2006;70:320-9. [PMID: 16965326]
13. 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]
14. Barcenas CH, Hosain GM, Arun B, Zong J, Zhou X, Chen J, et al. Assessing BRCA carrier probabilities in extended families. J Clin Oncol. 2006; 24:354-60. [PMID: 16421416]
15. Antoniou AC, Hardy R, Walker L, Evans DG, Shenton A, Eeles R, et al. Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics. J Med Genet. 2008;45:425-31. [PMID: 18413374]
16. Bellcross CA, Lemke AA, Pape LS, Tess AL, Meisner LT. Evaluation of a breast/ovarian cancer genetics referral screening tool in a mammography population. Genet Med. 2009;11:783-9. [PMID: 19752737]
17. Hoskins KF, Zwaagstra A, Ranz M. Validation of a tool for identifying women at high risk for hereditary breast cancer in population-based screening. Cancer. 2006;107:1769-76. [PMID: 16967460]
18. Ashton-Prolla P, Giacomazzi J, Schmidt AV, Roth FL, Palmero EI, Kalakun L, et al. Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care. BMC Cancer. 2009;9:2[PMID: 19682358]
19. 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]
20. Nelson H, Pappas M, Zakher B, Priest Mitchell J, Okinaka-Hu L, Fu R. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation. Ann Intern Med. 2014;160:255-66.
21. Gronwald J, Cybulski C, Lubinski J, Narod SA. Phenocopies in breast cancer 1 (BRCA1) families: implications for genetic counselling [Letter]. J Med Genet. 2007;44:e76. [PMID: 17400795]
22. Rowan E, Poll A, Narod SA. A prospective study of breast cancer risk in relatives of BRCA1/BRCA2 mutation carriers. J Med Genet. 2007;44:e89. [PMID: 17673443]
23. Smith A, Moran A, Boyd MC, Bulman M, Shenton A, Smith L, et al. Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening. J Med Genet. 2007;44:10-15. [PMID: 17079251]
24. Vos JR, de Bock GH, Teixeira N, van der Kolk DM, Jansen L, Mourits MJ, et al. Proven non-carriers in BRCA families have an earlier age of onset of breast cancer. Eur J Cancer. 2013. [PMID: 23490645]
25. Finch A, Metcalfe KA, Chiang J, Elit L, McLaughlin J, Springate C, et al. The impact of prophylactic salpingo-oophorectomy on quality of life and psychological distress in women with a BRCA mutation. Psychooncology. 2013;22: 212-9. [PMID: 21913283]
26. Nelson HD, Smith ME, Griffin JC, Fu R. Use of medications to reduce risk for primary breast cancer: a systematic review for the U.S. Preventive Services Task Force. Ann Intern Med. 2013;158:604-14. [PMID: 23588749]
27. Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010;304:967-75. [PMID: 20810374]
28. Skytte AB, Crüger D, Gerster M, Laenkholm AV, Lang C, Brøndum-Nielsen K, et al. Breast cancer after bilateral risk-reducing mastectomy. Clin Genet. 2011;79:431-7. [PMID: 21199491]
29. Evans DG, Gaarenstroom KN, Stirling D, Shenton A, Maehle L, Dørum A, et al. Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers. J Med Genet. 2009;46:593-7. [PMID: 18413372]
30. Centers for Disease Control and Prevention. Breast Cancer Statistics. Atlanta, GA: Centers for Disease Control and Prevention; 2013. Accessed at www .cdc.gov/cancer/breast/statistics on 14 November 2013.
31. Centers for Disease Control and Prevention, National Cancer Institute, North American Association of Central Cancer Registries. United States Cancer Statistics: 1999-2010 Cancer Incidence and Mortality Data. Atlanta, GA: Centers for Disease Control and Prevention; 2013. Accessed at http://apps.nccd.cdc .gov/uscs on 9 December 2013.
32. National Cancer Institute. Breast Cancer. Bethesda, MD: National Cancer Institute; 2013. Accessed at www.cancer.gov/cancertopics/types/breast on 14 November 2013.
33. National Cancer Institute. Ovarian Cancer. Bethesda, MD: National Cancer Institute; 2013. Accessed at www.cancer.gov/cancertopics/types/ovarian on 14 November 2013.
34. FitzGerald MG, MacDonald DJ, Krainer M, Hoover I, O'Neil E, Unsal H, et al. Germ-line BRCA1 mutations in Jewish and non-Jewish women with earlyonset breast cancer. N Engl J Med. 1996;334:143-9. [PMID: 8531968]
35. 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]
36. Fodor FH, Weston A, Bleiweiss IJ, McCurdy LD, Walsh MM, Tartter PI, et al. Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients. Am J Hum Genet. 1998; 63:45-51. [PMID: 9634504]
37. Hartge P, Struewing JP, Wacholder S, Brody LC, Tucker MA. The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. Am J Hum Genet. 1999;64:963-70. [PMID: 10090881]
38. Metcalfe KA, Poll A, Royer R, Llacuachaqui M, Tulman A, Sun P, et al. Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish women. J Clin Oncol. 2010;28:387-91. [PMID: 20008623]
39. 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]
40. Armstrong K, Micco E, Carney A, Stopfer J, Putt M. Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer. JAMA. 2005;293:1729-36. [PMID: 15827311]
41. Roshanai AH, Rosenquist R, Lampic C, Nordin K. Does enhanced information at cancer genetic counseling improve counselees' knowledge, risk perception, satisfaction and negotiation of information to at-risk relatives?-a randomized study. Acta Oncol. 2009;48:999-1009. [PMID: 19636983]
42. Matloff ET, Moyer A, Shannon KM, Niendorf KB, Col NF. Healthy women with a family history of breast cancer: impact of a tailored genetic counseling intervention on risk perception, knowledge, and menopausal therapy decision making. J Womens Health (Larchmt). 2006;15:843-56. [PMID: 16999640]
43. Bloom JR, Stewart SL, Chang S, You M. Effects of a telephone counseling intervention on sisters of young women with breast cancer. Prev Med. 2006;43: 379-84. [PMID: 16916540]
44. Braithwaite D, Sutton S, Mackay J, Stein J, Emery J. Development of a risk assessment tool for women with a family history of breast cancer. Cancer Detect Prev. 2005;29:433-9. [PMID: 16055276]
45. Helmes AW, Culver JO, Bowen DJ. Results of a randomized study of telephone versus in-person breast cancer risk counseling. Patient Educ Couns. 2006;64:96-103. [PMID: 16427245]
46. Bowen DJ, Burke W, Culver JO, Press N, Crystal S. Effects of counseling Ashkenazi Jewish women about breast cancer risk. Cultur Divers Ethnic Minor Psychol. 2006;12:45-56. [PMID: 16594854]
47. Mikkelsen EM, Sunde L, Johansen C, Johnsen SP. Risk perception among women receiving genetic counseling: a population-based follow-up study. Cancer Detect Prev. 2007;31:457-64. [PMID: 18061369]
48. Mikkelsen EM, Sunde L, Johansen C, Johnsen SP. Psychosocial consequences of genetic counseling: a population-based follow-up study. Breast J. 2009;15:61-8. [PMID: 19120380]
49. Pieterse AH, Ausems MG, Spreeuwenberg P, van Dulmen S. Longer-term influence of breast cancer genetic counseling on cognitions and distress: smaller benefits for affected versus unaffected women. Patient Educ Couns. 2011;85: 425-31. [PMID: 21316181]
50. Hopwood P, Wonderling D, Watson M, Cull A, Douglas F, Cole T, et al. A randomised comparison of UK genetic risk counselling services for familial cancer: psychosocial outcomes. Br J Cancer. 2004;91:884-92. [PMID: 15305197]
51. Kelly KM, Senter L, Leventhal H, Ozakinci G, Porter K. Subjective and objective risk of ovarian cancer in Ashkenazi Jewish women testing for BRCA1/2 mutations. Patient Educ Couns. 2008;70:135-42. [PMID: 17988821]
52. Gurmankin AD, Domchek S, Stopfer J, Fels C, Armstrong K. Patients' resistance to risk information in genetic counseling for BRCA1/2. Arch Intern Med. 2005;165:523-9. [PMID: 15767527]
53. Bennett P, Wilkinson C, Turner J, Brain K, Edwards RT, Griffith G, et al. Psychological factors associated with emotional responses to receiving genetic risk information. J Genet Couns. 2008;17:234-41. [PMID: 18259848]
54. Brain K, Parsons E, Bennett P, Cannings-John R, Hood K. The evolution of worry after breast cancer risk assessment: 6-year follow-up of the TRACE study cohort. Psychooncology. 2011;20:984-91. [PMID: 20677331]
55. Fry A, Cull A, Appleton S, Rush R, Holloway S, Gorman D, et al. A randomised controlled trial of breast cancer genetics services in South East Scotland: psychological impact. Br J Cancer. 2003;89:653-9. [PMID: 12915873]
56. Smerecnik CM, Mesters I, Verweij E, de Vries NK, de Vries H. A systematic review of the impact of genetic counseling on risk perception accuracy. J Genet Couns. 2009;18:217-28. [PMID: 19291376]
57. Bennett P, Wilkinson C, Turner J, Edwards RT, France B, Griffith G, et al. Factors associated with intrusive cancer-related worries in women undergoing cancer genetic risk assessment. Fam Cancer. 2009;8:159-65. [PMID: 19011994]
58. Fisher B, Costantino JP, Wickerham DL, Cecchini RS, Cronin WM, Robidoux A, et al. Tamoxifen for the prevention of breast cancer: current status of the National Surgical Adjuvant Breast and Bowel Project P-1 study. J Natl Cancer Inst. 2005;97:1652-62. [PMID: 16288118]
59. Powles TJ, Ashley S, Tidy A, Smith IE, Dowsett M. Twenty-year follow-up of the Royal Marsden randomized, double-blinded tamoxifen breast cancer prevention trial. J Natl Cancer Inst. 2007;99:283-90. [PMID: 17312305]
60. Veronesi U, Maisonneuve P, Rotmensz N, Bonanni B, Boyle P, Viale G, et al; Italian Tamoxifen Study Group. Tamoxifen for the prevention of breast cancer: late results of the Italian Randomized Tamoxifen Prevention Trial among women with hysterectomy. J Natl Cancer Inst. 2007;99:727-37. [PMID: 17470740]
61. Cuzick J, Forbes JF, Sestak I, Cawthorn S, Hamed H, Holli K, et al; International Breast Cancer Intervention Study I Investigators. Long-term results of tamoxifen prophylaxis for breast cancer-96-month follow-up of the randomized IBIS-I trial. J Natl Cancer Inst. 2007;99:272-82. [PMID: 17312304]
62. Grady D, Cauley JA, Geiger MJ, Kornitzer M, Mosca L, Collins P, et al; Raloxifene Use for The Heart Trial Investigators. Reduced incidence of invasive breast cancer with raloxifene among women at increased coronary risk. J Natl Cancer Inst. 2008;100:854-61. [PMID: 18544744]
63. Lippman ME, Cummings SR, Disch DP, Mershon JL, Dowsett SA, Cauley JA, et al. Effect of raloxifene on the incidence of invasive breast cancer in postmenopausal women with osteoporosis categorized by breast cancer risk. Clin Cancer Res. 2006;12:5242-7. [PMID: 16951244]
64. Vogel VG, Costantino JP, Wickerham DL, Cronin WM, Cecchini RS, Atkins JN, et al; National Surgical Adjuvant Breast and Bowel Project. Update of the National Surgical Adjuvant Breast and Bowel Project Study of Tamoxifen and Raloxifene (STAR) P-2 Trial: Preventing breast cancer. Cancer Prev Res (Phila). 2010;3:696-706. [PMID: 20404000]
65. Nelson HD, Fu R, Humphrey L, Smith M, Griffin JC, Nygren P. Comparative Effectiveness of Medications to Reduce Risk of Primary Breast Cancer in Women. Comparative effectiveness review no.2. Rockville, MD: Agency for Healthcare Research and Quality; 2009
66. Kurian AW, Gong GD, John EM, Johnston DA, Felberg A, West DW, et al. Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: findings from the Breast Cancer Family Registry. J Clin Oncol. 2011; 29:4505-9. [PMID: 22042950]
67. Eisen A, Lubinski J, Klijn J, Moller P, Lynch HT, Offit K, et al. Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol. 2005;23:7491-6. [PMID: 16234515]
68. Kriege M, Brekelmans CT, Boetes C, Muller SH, Zonderland HM, Obdeijn IM, et al; Dutch MRI Screening (MRISC) Study Group. Differences between first and subsequent rounds of the MRISC breast cancer screening program for women with a familial or genetic predisposition. Cancer. 2006;106: 2318-26. [PMID: 16615112]
69. Le-Petross HT, Whitman GJ, Atchley DP, Yuan Y, Gutierrez-Barrera A, Hortobagyi GN, et al. Effectiveness of alternating mammography and magnetic resonance imaging for screening women with deleterious BRCA mutations at high risk of breast cancer. Cancer. 2011;117:3900-7. [PMID: 21365619]
70. 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]
71. Metcalfe KA, Esplen MJ, Goel V, Narod SA. Psychosocial functioning in women who have undergone bilateral prophylactic mastectomy. Psychooncology. 2004;13:14-25. [PMID: 14745742]
72. 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]
73. Brandberg Y, Arver B, Johansson H, Wickman M, Sandelin K, Liljegren A. Less correspondence between expectations before and cosmetic results after riskreducing mastectomy in women who are mutation carriers: a prospective study. Eur J Surg Oncol. 2012;38:38-43. [PMID: 22032910]
74. Brandberg Y, Sandelin K, Erikson S, Jurell G, Liljegren A, Lindblom A, et al. Psychological reactions, quality of life, and body image after bilateral prophylactic mastectomy in women at high risk for breast cancer: a prospective 1-year follow-up study. J Clin Oncol. 2008;26:3943-9. [PMID: 18711183]
75. Gahm J, Wickman M, Brandberg Y. Bilateral prophylactic mastectomy in women with inherited risk of breast cancer-prevalence of pain and discomfort, impact on sexuality, quality of life and feelings of regret two years after surgery. Breast. 2010;19:462-9. [PMID: 20605453]
76. Wasteson E, Sandelin K, Brandberg Y, Wickman M, Arver B. High satisfaction rate ten years after bilateral prophylactic mastectomy-a longitudinal study. Eur J Cancer Care (Engl). 2011;20:508-13. [PMID: 20597955]
77. Finch A, Metcalfe KA, Chiang JK, Elit L, McLaughlin J, Springate C, et al. The impact of prophylactic salpingo-oophorectomy on menopausal symptoms and sexual function in women who carry a BRCA mutation. Gynecol Oncol. 2011;121:163-8. [PMID: 21216453]
78. Nelson HD, Huffman LH, Fu R, Harris EL; U.S. Preventive Services Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence review for the U.S. Preventive Services Task Force. Ann Intern Med. 2005;143:362-79. [PMID: 16144895]
79. American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome. Obstet Gynecol. 2009;113:957-66. [PMID: 19305347]
80. Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K; American Society of Clinical Oncology. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol. 2010; 28:893-901. [PMID: 20065170]
81. Berliner JL, Fay AM, Cummings SA, Burnett B, Tillmanns T. NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. J Genet Couns. 2013;22:155-63. [PMID: 23188549]
82. Balmaña J, Díez O, Rubio IT, Cardoso F; ESMO Guidelines Working Group. BRCA in breast cancer: ESMO Clinical Practice Guidelines. Ann Oncol. 2011;22 Suppl 6:vi31-4. [PMID: 21908500]
83. Lancaster JM, Powell CB, Kauff ND, Cass I, Chen LM, Lu KH, et al; Society of Gynecologic Oncologists Education Committee. Society of Gynecologic Oncologists Education Committee statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol. 2007;107:159-62. [PMID: 17950381]