J Breast Cancer.  2016 Jun;19(2):218-221. 10.4048/jbc.2016.19.2.218.

Experience with Bilateral Risk-Reducing Mastectomy for an Unaffected BRCA Mutation Carrier

• Maeshima Y
• Oseto K
• Katsuragi
• Yoshimoto
• Takahara S
• Yamauchi A

• KMID: 2308976
• DOI: http://doi.org/10.4048/jbc.2016.19.2.218

Abstract

Women with BRCA1/2 mutations have a high risk of breast cancer and may opt for risk-reducing mastectomy (RRM). We report a 38-year-old Japanese woman who was diagnosed as a BRCA2 mutation carrier. She underwent prophylactic bilateral skin-sparing mastectomy (SSM) with excision of the nipple and preservation of the areola skin. It is unclear whether a bilateral RRM leads to better survival compared with intensive surveillance. The oncological risk associated with the presence of remnant breast glandular tissue after SSM or nipple-sparing mastectomy has been obscure. We report the first case of RRM for a Japanese BRCA mutation carrier and provide a literature review on risk management for BRCA mutation carriers with a focus on the concepts and procedures of RRM.

Keyword

Genes; BRCA2; Prophylactic surgical procedure; Subcutaneous mastectomy

MeSH Terms

Adult
Asian Continental Ancestry Group
Breast
Breast Neoplasms
Female
Humans
Mastectomy*
Mastectomy, Subcutaneous
Nipples
Prophylactic Surgical Procedures
Risk Management
Skin

Reference

1. Tung N. Management of women with BRCA mutations: a 41-year-old woman with a BRCA mutation and a recent history of breast cancer. JAMA. 2011; 305:2211–2220.

2. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007; 25:1329–1333.

3. 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; 345:159–164.

4. 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.

5. 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; 304:967–975.

6. Clinical practice guidelines in oncology genetic/familial high-risk assessment: breast and ovarian - v.2. National Comprehensive Cancer Network;2015. Accessed July 17th, 2015. http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf.

7. Kurian AW, Sigal BM, Plevritis SK. Survival analysis of cancer risk reduction strategies for BRCA1/2 mutation carriers. J Clin Oncol. 2010; 28:222–231.

8. 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; 286:2251–2256.

9. Bresser PJ, Seynaeve C, Van Gool AR, Brekelmans CT, Meijers-Heijboer H, van Geel AN, et al. Satisfaction with prophylactic mastectomy and breast reconstruction in genetically predisposed women. Plast Reconstr Surg. 2006; 117:1675–1682.

10. Salhab M, Bismohun S, Mokbel K. Risk-reducing strategies for women carrying BRCA1/2 mutations with a focus on prophylactic surgery. BMC Womens Health. 2010; 10:28.

11. 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; 339:424–428.

12. Marchetti C, De Felice F, Palaia I, Perniola G, Musella A, Musio D, et al. Risk-reducing salpingo-oophorectomy: a meta-analysis on impact on ovarian cancer risk and all cause mortality in BRCA 1 and BRCA 2 mutation carriers. BMC Womens Health. 2014; 14:150.

13. Reynolds C, Davidson JA, Lindor NM, Glazebrook KN, Jakub JW, Degnim AC, et al. Prophylactic and therapeutic mastectomy in BRCA mutation carriers: can the nipple be preserved? Ann Surg Oncol. 2011; 18:3102–3109.

14. 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; 22:1055–1062.

15. van Verschuer VM, Maijers MC, van Deurzen CH, Koppert LB. Oncological safety of prophylactic breast surgery: skin-sparing and nipplesparing versus total mastectomy. Gland Surg. 2015; 4:467–475.