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Different Patterns of Risk Reducing Decisions in Affected or Unaffected BRCA Pathogenic Variant Carriers

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초록

Purpose The purpose of this study was to investigate decision patterns to reduce the risks of BRCArelated breast and gynecologic cancers in carriers of BRCA pathogenic variants. We found a change in risk-reducing (RR) management patterns after December 2012, when the National Health Insurance System (NHIS) of Korea began to pay for BRCA testing and riskreducing salpingo-oophorectomy (RRSO) in pathogenic-variant carriers. Materials and Methods The study group consisted of 992 patients, including 705 with breast cancer (BC), 23 with ovarian cancer (OC), 10 with both, and 254 relatives of high-risk patients who underwent BRCA testing at the National Cancer Center of Korea from January 2008 to December 2016.We analyzed patterns of and factors in RR management. Results Of the 992 patients, 220 (22.2%) were carriers of BRCA pathogenic variants. About 92.3% (203/220) had a family history of BC and/or OC, which significantly differed between BRCA1 and BRCA2 carriers (p < 0.001). All 41 male carriers chose surveillance. Of the 179 female carriers, 59 of the 83 carriers (71.1%) with BC and the 39 of 79 unaffected carriers (49.4%) underwent RR management. None of the carriers affected with OC underwent RR management. Of the management types, RRSO had the highest rate (42.5%) of patient choice. The rate of RR surgery was significantly higher after 2013 than before 2013 (46.3% [74/160] vs. 31.6% [6/19], p < 0.001). Conclusion RRSO was the preferred management for carriers of BRCA pathogenic variants. The most important factors in treatment choice were NHIS reimbursement and/or the severity of illness.

Abstract

Purpose The purpose of this study was to investigate decision patterns to reduce the risks of BRCArelated breast and gynecologic cancers in carriers of BRCA pathogenic variants. We found a change in risk-reducing (RR) management patterns after December 2012, when the National Health Insurance System (NHIS) of Korea began to pay for BRCA testing and riskreducing salpingo-oophorectomy (RRSO) in pathogenic-variant carriers. Materials and Methods The study group consisted of 992 patients, including 705 with breast cancer (BC), 23 with ovarian cancer (OC), 10 with both, and 254 relatives of high-risk patients who underwent BRCA testing at the National Cancer Center of Korea from January 2008 to December 2016.We analyzed patterns of and factors in RR management. Results Of the 992 patients, 220 (22.2%) were carriers of BRCA pathogenic variants. About 92.3% (203/220) had a family history of BC and/or OC, which significantly differed between BRCA1 and BRCA2 carriers (p < 0.001). All 41 male carriers chose surveillance. Of the 179 female carriers, 59 of the 83 carriers (71.1%) with BC and the 39 of 79 unaffected carriers (49.4%) underwent RR management. None of the carriers affected with OC underwent RR management. Of the management types, RRSO had the highest rate (42.5%) of patient choice. The rate of RR surgery was significantly higher after 2013 than before 2013 (46.3% [74/160] vs. 31.6% [6/19], p < 0.001). Conclusion RRSO was the preferred management for carriers of BRCA pathogenic variants. The most important factors in treatment choice were NHIS reimbursement and/or the severity of illness.

참고문헌 (30)

  1. Claus EB, "The genetic attributable risk of breast and ovarian cancer", Cancer, 77, pp.2318~2324 (1996)
  2. Easton DF, "How many more breast cancer predisposition genes are there?", Breast Cancer Res, 1, pp.14~17 (1999)
  3. Beattie MS, "Uptake, time course, and predictors of risk-reducing surgeries in BRCA carriers", Genet Test Mol Biomarkers, 13, pp.51~56 (2009)
  4. Campeau PM, "Hereditary breast cancer : new genetic developments, new therapeutic avenues", Hum Genet, 124, pp.31~42 (2008)
  5. Pal T, "BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases", Cancer, 104, pp.2807~2816 (2005)
  6. Friedenson B, "BRCA1 and BRCA2 pathways and the risk of cancers other than breast or ovarian", MedGenMed, 7, pp.60~ (2005)
  7. Meijers-Heijboer H, "Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation", N Engl J Med, 345, pp.159~164 (2001)
  8. Greene MH, "Does bilateral salpingectomy with ovarian retention warrant consideration as a temporary bridge to risk-reducing bilateral oophorectomy in BRCA1", 2 mutation carriers?, 2011, pp.19, e1~e6
  9. Morris JL, "Positive results: making the best decisions when you're at high risk for breast or ovarian cancer" (2010), Prometheus Books
  10. Daly MB, "Genetic", familial high-risk assessment: breast and ovarian, version 2.2015, 2016, pp.14, 153~162
  11. Schwartz MD, "Long-term outcomes of BRCA1", BRCA2 testing : risk reduction and surveillance, 2012, pp.118, 510~517
  12. Kim SI, "Uptake of risk-reducing salpingo-oophorectomy among female BRCA mutation carriers : experience at the National Cancer Center of Korea", J Cancer Res Clin Oncol, 142, pp.333~340 (2016)
  13. Fu R, "Estimating risk of breast cancer in carriers of BRCA1 and BRCA2 mutations : a meta-analytic approach", Stat Med, 26, pp.1775~1787 (2007)
  14. Garcia C, "Risk management options elected by women after testing positive for a BRCA mutation", Gynecol Oncol, 132, pp.428~433 (2014)
  15. Choi MC, "Practice patterns of hereditary ovarian cancer management in Korea", Int J Gynecol Cancer, 27, pp.895~899 (2017)
  16. 임명철, "Incidence of cervical, endometrial, and ovarian cancer in Korea, 1999-2010", Journal of Gynecologic Oncology, 24(4), pp.298~302 (2013), 대한부인종양학회
  17. Watson M, "Psychosocial impact of breast", ovarian(BRCA1, Br J Cancer, pp.2004, 91[DOI]
  18. Del Corral GA, "Outcomes and cost analysis in high-risk patients undergoing simultaneous free flap breast reconstruction and gynecologic procedures", Ann Plast Surg, 75, pp.534~538 (2015)
  19. Hagen AI, "Risk reducing mastectomy, breast reconstruction and patient satisfaction in Norwegian BRCA1", 2 mutation carriers, 2014, pp.23, 38~43
  20. Hooker GW, "Long-term satisfaction and quality of life following risk reducing surgery in BRCA1", 2 mutation carriers, 2014, pp.12, 9~
  21. Gamble C, "Cost effectiveness of risk-reducing mastectomy versus surveillance in BRCA mutation carriers with a history of ovarian cancer", Ann Surg Oncol, 24, pp.3116~3123 (2017)
  22. Evans DG, "The Angelina Jolie effect : how high celebrity profile can have a major impact on provision of cancer related services", Breast Cancer Res, 16, pp.442~ (2014)
  23. Freedman R, "A retrospective exploration of the impact of the 'Angelina Jolie Effect' on the single state-wide familial cancer program in Perth, Western Australia", J Genet Couns, 26, pp.52~62 (2017)
  24. Evans DG, "Longer term effects of the Angelina Jolie effect : increased risk-reducing mastectomy rates in BRCA carriers and other high-risk women", Breast Cancer Res, 17, pp.143~ (2015)
  25. Lim MC, "Embryonic natural orifice transumbilical endoscopic surgery(E-NOTES)for adnexal tumors", Surg Endosc, 23, pp.2445~2449 (2009)
  26. Rebbeck TR, "Meta-analysis of risk reduction estimates associated with risk-reducing salpingooophorectomy in BRCA1 or BRCA2 mutation carriers", J Natl Cancer Inst, 101, pp.80~87 (2009)
  27. Bando H, "Issues of concern in risk assessment, genetic counseling, and genetic testing of younger breast cancer patients in Japan", Breast Cancer, 21, pp.656~663 (2014)
  28. Eitan R, "The counseling and management of young healthy BRCA mutation carriers", Int J Gynecol Cancer, 19, pp.1156~1159 (2009)
  29. Kauff ND, "Insurance reimbursement for risk-reducing mastectomy and oophorectomy in women with BRCA1 or BRCA2 mutations", Genet Med, 3, pp.422~425 (2001)
  30. Guillem JG, "ASCO", SSO review of current role of riskreducing surgery in common hereditary cancer syndromes, 2006, pp.13, 1296~1321

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