Share This Article:

Reasons for Prophylactic Mastectomy in Women Carrying BRCA 1/2 Mutation: A Systematic Literature Review

Abstract Full-Text HTML XML Download Download as PDF (Size:98KB) PP. 97-105
DOI: 10.4236/abcr.2013.23017    5,584 Downloads   8,963 Views   Citations

ABSTRACT

Although the majority of breast cancers are sporadic, it is estimated that between 5% and 10% of cases are hereditary and mostly associated with BRCA 1 and BRCA 2 mutations. Women with BRCA 1 or BRCA 2 mutation present up to 95% increased risk of breast cancer and are advised to take preventive measures. Surveillance, chemoprevention and prophylactic surgery (mastectomy and oophorectomy) are risk-reducing strategies. This literature review aims to respond to two major questions: 1) to what extent is the decision-making for prophylactic mastectomy in women with the BRCA mutation a more relevant option than other strategies, and 2) what are the major factors influencing the decision for mastectomy? For this purpose, 27 published articles were reviewed. Results show: a) the decision for mastectomy is more frequent in women carrying BRCA 1/2 mutation than in non-carriers; mastectomy being less frequent than oophorectomy; b) the decision-making is significantly associated with BRCA mutation, parity, age and family history; c) reasons underlying women decision-making relate to anxiety toward the risk of cancer, concerns with surgery, body-image and sexuality. It is discussed that, due to the complexity of the decision-making process, these cases require a careful and meticulous approach regarding information provided, and in addressing concerns.

Conflicts of Interest

The authors declare no conflicts of interest.

Cite this paper

Machado, M. and Braga, S. (2013) Reasons for Prophylactic Mastectomy in Women Carrying BRCA 1/2 Mutation: A Systematic Literature Review. Advances in Breast Cancer Research, 2, 97-105. doi: 10.4236/abcr.2013.23017.

References

[1] J. C. Bailar and H. L. Gornik, “Cancer Undefeated,” The New England Journal of Medicine, Vol. 336, 1997, pp. 1569-1574. doi:10.1056/NEJM199705293362206
[2] J. I. Goldberg and P. I. Borgen, “Breast Cancer Susceptibility Testing: Past, Present and Future,” Expert Review of Anticancer Therapy, Vol. 6, 2006, pp. 1205-1214. doi:10.1586/14737140.6.8.1205
[3] W. D. Foulkes, “Inherited Susceptibility to Common Cancers,” The New England Journal of Medicine, Vol. 359, 2008, pp. 2143-2153. doi:10.1056/NEJMra0802968
[4] Y. Miki, J. Swensen, D. Shattuck-Eidens, P. A. Futreal, K. Harshman, S. Tavtigian, et al., “A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1,” Science, Vol. 266, 1994, pp. 66-71. doi:10.1126/science.7545954
[5] R. Wooster, G. Bignell, J. Lancaster, S. Swift, S. Seal, J. Mangion, et al., “Identification of the Breast Cancer Susceptibility Gene BRCA2,” Nature, Vol. 378, 1995, pp. 789-792. doi:10.1038/378789a0
[6] F. Wang, Q. Fang, Z. Ge, N. Yu, S. Xu and X. Fan, “Common BRCA1 and BRCA2 Mutations in Breast Cancer Families: A Meta-Analysis from Systematic Review,” Molecular Biology Reports, Vol. 39, 2012, pp. 2109-2118. doi:10.1007/s11033-011-0958-0
[7] M. Salhab, S. Bismohun and K. Mokbel, “Risk-Reducing Strategies for Women Carrying BRCA1/2 Mutations with a Focus on Prophylactic Surgery,” BMC Women’s Health, Vol. 10, 2010, p. 28. doi:10.1186/1472-6874-10-28
[8] G. Rennert, S. Bisland-Naggan, O. Barnett-Griness, N. Bar-Joseph, S. Zhang, H. S. Rennert, et al., “Clinical Outcomes of Breast Cancer in Carriers of BRCA1 and BRCA2 Mutations,” The New England Journal of Medicine, Vol. 357, 2007, pp. 115-123. doi:10.1056/NEJMoa070608
[9] S. Chen and G. Parmigiani, “Meta-Analysis of BRCA1 and BRCA2 Penetrance,” Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, Vol. 25, 2007, pp. 1329-1333.
[10] M. J. Bermejo-Perez, S. Marquez-Calderon and A. LlanosMendez, “Effectiveness of Preventive Interventions in BRCA1/2 Gene Mutation Carriers: A Systematic Review,” International Journal of Cancer, Vol. 121, 2007, pp. 225-231.
[11] N. Petrucelli, M. B. Daly and G. L. Feldman, “BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer,” In: R. A. Pagon, T. D. Bird, C. R. Dolan, K. Stephens and M. P. Adam, Eds., Gene Reviews, Seattle, 1993.
[12] D. M. van der Kolk, G. H. de Bock, B. K. Leegte, M. Schaapveld, M. J. Mourits, J. de Vries, et al., “Penetrance of Breast Cancer, Ovarian Cancer and Contralateral Breast Cancer in BRCA1 and BRCA2 Families: High Cancer Incidence at Older Age,” Breast Cancer Research and Treatment, Vol. 124, 2010, pp. 643-651. doi:10.1007/s10549-010-0805-3
[13] E. H. Lee, S. K. Park, B. Park, S. W. Kim, M. H. Lee, S. H. Ahn, et al., “Effect of BRCA1/2 Mutation on ShortTerm and Long-Term Breast Cancer Survival: A Systematic Review and Meta-Analysis,” Breast Cancer Research and Treatment, Vol. 122, 2010, pp. 11-25. doi:10.1007/s10549-010-0859-2
[14] National Comprehensive Cancer Network. http://www.cancerresearchuk.org/cancer-info/cancer stats/types/lung/
[15] A. Subramanian, M. Salhab and K. Mokbel, “Oestrogen Producing Enzymes and Mammary Carcinogenesis: A Review,” Breast Cancer Research and Treatment, Vol. 111, 2008, pp. 191-202. doi:10.1007/s10549-007-9788-0
[16] B. Fisher, J. P. Costantino, D. L. Wickerham, C. K. Redmond, M. Kavanah, W. M. Cronin, et al., “Tamoxifen for Prevention of Breast Cancer: Report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study,” Journal of the National Cancer Institute, Vol. 90, 1998, pp. 1371-1388. doi:10.1093/jnci/90.18.1371
[17] http://www.ibis-trials.org
[18] J. A. Ray, L. J. Loescher and M. Brewer, “Risk-Reduction Surgery Decisions in High-Risk Women Seen for Genetic Counseling,” Journal of Genetic Counseling, Vol. 14, 2005, pp. 473-484. doi:10.1007/s10897-005-5833-5
[19] Y. Antill, J. Reynolds, M. A. Young, J. Kirk, K. Tucker, T. Bogtstra, et al., “Risk-Reducing Surgery in Women with Familial Susceptibility for Breast and/or Ovarian Cancer,” European Journal of Cancer, Vol. 42, 2006, pp. 621-628. doi:10.1016/j.ejca.2005.11.020
[20] A. Stuckey, D. Dizon, J. Scalia Wilbur, J. Kent, T. TejadaBerges, J. Gass, et al., “Clinical Characteristics and Choices Regarding Risk-Reducing Surgery in BRCA Mutation Carriers,” Gynecologic and Obstetric Investigation, Vol. 69, 2010, pp. 270-273. doi:10.1159/000276573
[21] K. A. Metcalfe, C. Snyder, J. Seidel, D. Hanna, H. T. Lynch and S. Narod, “The Use of Preventive Measures among Healthy Women Who Carry a BRCA1 or BRCA2 Mutation,” Familial Cancer, Vol. 4, No. 2, 2005, pp. 97-103. doi:10.1007/s10689-005-4215-3
[22] A. B. Skytte, A. M. Gerdes, M. K. Andersen, L. Sunde, K. Brondum-Nielsen, M. Waldstrom, et al., “Risk-Reducing Mastectomy and Salpingo-Oophorectomy in Unaffected BRCA Mutation Carriers: Uptake and Timing,” Clinical Genetics, Vol. 77, 2010, pp. 342-349. doi:10.1111/j.1399-0004.2009.01329.x
[23] T. M. Friebel, S. M. Domchek, S. L. Neuhausen, T. Wagner, D. G. Evans, C. Isaacs, et al., “Bilateral Prophylactic Oophorectomy and Bilateral Prophylactic Mastectomy in a Prospective Cohort of Unaffected BRCA1 and BRCA2 Mutation Carriers,” Clinical Breast Cancer, Vol. 7, 2007, pp. 875-882. doi:10.3816/CBC.2007.n.053
[24] A. Kwong, C. H. Wong, C. Shea, D. T. Suen and C. L. Choi, “Choice of Management of Southern Chinese BRCA Mutation Carriers,” World Journal of Surgery, Vol. 34, 2010, pp. 1416-1426. doi:10.1007/s00268-010-0477-5
[25] D. Morgan, H. Sylvester, F. L. Lucas and S. Miesfeldt, “Cancer Prevention and Screening Practices among Women at Risk for Hereditary Breast and Ovarian Cancer after Genetic Counseling in the Community Setting,” Familial Cancer, Vol. 8, 2009, pp. 277-287. doi:10.1007/s10689-009-9242-z
[26] N. M. Rueth, M. McMahon, A. K. Arrington, K. Swenson, J. Leach and T. M. Tuttle, “Preoperative Risk Assessment among Women Undergoing Bilateral Prophylactic Mastectomy for Cancer Risk Reduction,” Annals of Surgical Oncology, Vol. 18, 2011, pp. 2515-2520. doi:10.1245/s10434-011-1642-2
[27] S. van Dijk, M. S. van Roosmalen, W. Otten and P. F. Stalmeier, “Decision Making Regarding Prophylactic Mastectomy: Stability of Preferences and the Impact of Anticipated Feelings of Regret,” Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, Vol. 26, 2008, pp. 2358-2363.
[28] N. Hoogerbrugge, Y. J. Kamm, P. Bult, K. M. Landsbergen, E. M. Bongers, H. G. Brunner, et al., “The Impact of a False-Positive MRI on the Choice for Mastectomy in BRCA Mutation Carriers Is Limited,” Annals of Oncology: Official Journal of the European Society for Medical Oncology/ESMO, Vol. 19, 2008, pp. 655-659.
[29] A. W. Kurian, A. R. Hartman, M. A. Mills, J. M. Ford, B. L. Daniel and S. K. Plevritis, “Opinions of Women with High Inherited Breast Cancer Risk about Prophylactic Mastectomy: An Initial Evaluation from a Screening Trial including Magnetic Resonance Imaging and Ductal Lavage,” Health Expectations: An International Journal of Public Participation in Health Care and Health Policy, Vol. 8, 2005, pp. 221-233.
[30] A. Uyei, S. K. Peterson, J. Erlichman, K. Broglio, S. Yekell, K. Schmeler, et al., “Association between Clinical Characteristics and Risk-Reduction Interventions in Women Who Underwent BRCA1 and BRCA2 Testing: A Single-Institution Study,” Cancer, Vol. 107, 2006, pp. 2745-2751. doi:10.1002/cncr.22352
[31] M. McQuirter, L. L. Castiglia, C. G. Loiselle and N. Wong, “Decision-Making Process of Women Carrying a BRCA1 or BRCA2 Mutation Who Have Chosen Prophylactic Mastectomy,” Oncology Nursing Forum, Vol. 37, 2010, pp. 313-320. doi:10.1188/10.ONF.313-320
[32] E. K. Bancroft, I. Locke, A. Ardern-Jones, L. D’Mello, K. McReynolds, F. Lennard, et al., “The Carrier Clinic: An Evaluation of a Novel Clinic Dedicated to the Follow-Up of BRCA1 and BRCA2 Carriers—Implications for Oncogenetics Practice,” Journal of Medical Genetics, Vol. 47, 2010, pp. 486-491. doi:10.1136/jmg.2009.072728
[33] K. A. Metcalfe, W. D. Foulkes, C. Kim-Sing, P. Ainsworth, B. Rosen, S. Armel, et al., “Family History as a Predictor of Uptake of Cancer Preventive Procedures by Women with a BRCA1 or BRCA2 Mutation,” Clinical Genetics, Vol. 73, 2008, pp. 474-479. doi:10.1111/j.1399-0004.2008.00988.x
[34] K. M. Landsbergen, J. B. Prins, Y. J. Kamm, H. G. Brunner and N. Hoogerbrugge, “Female BRCA Mutation Carriers with a Preference for Prophylactic Mastectomy Are More Likely to Participate an Educational-Support Group and to Proceed with the Preferred Intervention within 2 Years,” Familial Cancer, Vol. 9, 2010, pp. 213-220. doi:10.1007/s10689-009-9311-3
[35] A. F. Howard, L. G. Balneaves, J. L. Bottorff and P. Rodney, “Preserving the Self: The Process of Decision Making about Hereditary Breast Cancer and Ovarian Cancer Risk Reduction,” Qualitative Health Research, Vol. 21, 2011, pp. 502-519. doi:10.1177/1049732310387798
[36] E. Claes, G. Evers-Kiebooms, M. Decruyenaere, L. Denayer, A. Boogaerts, K. Philippe, et al., “Surveillance Behavior and Prophylactic Surgery after Predictive Testing for Hereditary Breast/Ovarian Cancer,” Behavioral medicine, Vol. 31, No. 3, 2005, pp. 93-105. doi:10.3200/BMED.31.3.93-106
[37] A. D. Staton, A. W. Kurian, K. Cobb, M. A. Mills and J. M. Ford, “Cancer Risk Reduction and Reproductive Concerns in Female BRCA1/2 Mutation Carriers,” Familial cancer, Vol. 7, No. 2, 2008, pp. 179-186. doi:10.1007/s10689-007-9171-7
[38] M. B. Tan, E. M. Bleiker, M. B. Menke-Pluymers, A. R. Van Gool, S. van Dooren, B. N. Van Geel, et al., “Standard Psychological Consultations and Follow up for Women at Increased Risk of Hereditary Breast Cancer Considering Prophylactic Mastectomy,” Hereditary Cancer in Clinical Practice, Vol. 7, No. , 2009, p. 6.
[39] A. F. Howard, J. L. Bottorff, L. G. Balneaves and C. Kim-Sing, “Women’s Constructions of the ‘Right Time’ to Consider Decisions About Risk-Reducing Mastectomy and Risk-Reducing Oophorectomy,” BMC Women’s Health, Vol. 10, No. , 2010, p. 24. doi:10.1186/1472-6874-10-24
[40] C. Julian-Reynier, J. Mancini, E. Mouret-Fourme, M. Gauthier-Villars, V. Bonadona, P. Berthet, et al., “Cancer Risk Management Strategies and Perceptions of Unaffected Women 5 Years after Predictive Genetic Testing for BRCA1/2 Mutations,” European Journal of Human Genetics, Vol. 19, No. , 2011, pp. 500-506. doi:10.1038/ejhg.2010.241
[41] E. Dagan and H. Goldblatt, “The Twilight Zone between Health and Sickness: A Qualitative Exploration with Asymptomatic BRCA1 and 2 Mutation Carriers,” Women & Health, Vol. 49, No. 4, 2009, pp. 263-279. doi:10.1080/03630240903158321
[42] J. K. Litton, S. N. Westin, K. Ready, C. C. Sun, S. K. Peterson, F. Meric-Bernstam, et al., “Perception of Screening and Risk Reduction Surgeries in Patients Tested for a BRCA Deleterious Mutation,” Cancer, Vol. 115, No. 8, 2009, pp.1598-1604. doi:10.1002/cncr.24199
[43] K. A. Metcalfe, N. Mian, M. Enmore, A. Poll, M. Llacuachaqui, S. Nanda, et al., “Long-Term Follow-Up of Jewish Women with a BRCA1 and BRCA2 Mutation Who Underwent Population Genetic Screening,” Breast Cancer Research and Treatment, Vol. 133, No. 2, 2012, pp. 735-740. doi:10.1007/s10549-011-1941-0
[44] R. L. Croshaw, M. L. Marshall, T. L. Williams, K. M. Erb and T. B. Julian, “Prophylactic and Therapeutic Breast Conservation in BRCA1/2 Mutation Carriers,” International Journal of Breast Cancer, Vol. 2011, No. 2011, 2011, Article ID: 481563.
[45] D. C. Allain, K. Sweet and D. M. Agnese, “Management Options after Prophylactic Surgeries in Women with BRCA Mutations: A Review,” Cancer Control: Journal of the Moffitt Cancer Center, Vol. 14, No. 4, 2007, pp. 330-337.

  
comments powered by Disqus

Copyright © 2018 by authors and Scientific Research Publishing Inc.

Creative Commons License

This work and the related PDF file are licensed under a Creative Commons Attribution 4.0 International License.