Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Communication with Family Members about Positive BRCA1/2 Genetic Test Results in Korean Hereditary Breast Cancer Families

한국인 유전성 유방암 가계에서 BRCA1/2 유전자 돌연변이 사실에 대한 가족과의 의사소통 실태

  • Kang, Eun-Young (Department of Surgery, Seoul National University Bundang Hospital) ;
  • Park, Sue-K. (Department of Preventive Medicine, Seoul National University College of Medicine) ;
  • Kim, Ku-Sang (Department of Surgery, Ajou University School of Medicine) ;
  • Choi, Doo-Ho (Department of Radiation Oncology, Sungkyunkwan University School of Medicine) ;
  • Nam, Seok-Jin (Department of Surgery, Sungkyunkwan University School of Medicine) ;
  • Paik, Nam-Sun (Department of Surgery, Ewha Womans' University Medical Center) ;
  • Lee, Jong-Won (Department of Surgery, Asan Medical Center, College of Medicine, University of Ulsan) ;
  • Lee, Min-Hyuk (Department of Surgery, Soonchunhyang University Hospital) ;
  • Kim, Sung-Won (Department of Surgery, Seoul National University Bundang Hospital) ;
  • 강은영 (분당서울대학교병원 외과) ;
  • 박수경 (서울대학교 의과대학 예방의학교실) ;
  • 김구상 (아주대학교 의과대학 외과) ;
  • 최두호 (성균관대학교 의과대학 방사선종양학과) ;
  • 남석진 (성균관대학교 의과대학 외과) ;
  • 백남선 (이화여자대학교 의과대학 외과) ;
  • 이종원 (울산대학교 의과대학 외과) ;
  • 이민혁 (순천향대학교 의과대학 외과) ;
  • 김성원 (분당서울대학교병원 외과) ;
  • 한국유방암학회 (한국유방암학회)
  • Received : 2011.10.18
  • Accepted : 2011.12.16
  • Published : 2011.12.31
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Abstract

Purpose: Sharing genetic information with family members is important for cancer awareness and prevention. The purpose of this study is to examine disclosure patterns of positive BRCA genetic test results to patients' relatives. Materials and Methods: A total of 106 probands who had positive BRCA genetic test results from the Korean Hereditary Breast Cancer Study participated in our study. Subjects were asked whether they had disclosed their genetic test results to first-, second-, and third-degree relatives. Univariate and multivariate analyses were used to identify factors associated with positive result sharing with close and distant relatives. Results: In total, 99 respondents (93.4%) informed at least one at-risk relative of the test result, and they all reported that they had disclosed their genetic test result to a first-degree relative. Communication of test results to other relatives occurred significantly less often, with only 31 of 99 subjects (31.3%) sharing their results with second- or third-degree relatives. In the results of univariate analyses, disclosure of genetic test results to more distant relatives was associated with marital status and months since post-test counseling. The reasons for communication were to provide information about the BRCArelated cancer risk and to recommend the genetic test. Conclusion: Most individuals with the BRCA mutation share their test results with first-degree family members; however, these results reach more distant relatives significantly less often. Therefore, it is necessary to encourage patients' communication with extended family members through systematic genetic counseling.

목적: 유전성 유방암 가계에서 BRCA 유전자 돌연변이 결과 공유의 중요성은 가족검사를 통해 돌연변이 보인자를 확인하고 적극적인 암 발생 감시와 예방적 치료를 제공하는데 있다. 본 연구를 통하여 유전성 유방암 가계에서 돌연변이 사실에 대한 공유 정도, 등친 별 의사소통 차이와 이에 영향을 미치는 요인을 확인하고자 한다. 대상 및 방법: 한국인 유전성유방암 연구에 등록되어 BRCA1 또는 BRCA2 돌연변이가 확인된 발단자 106명을 대상으로 검사 후 유전상담, 유전성 유방암 지식도 평가, 돌연변이 사실에 대한 가족간의 의사소통 과정, 가족 검사 현황에 대해 설문조사를 시행하였다. 결과: 최종 응답자 106명 중 99명은 적어도 한 명 이상의 친족에게 자신의 유전자 검사결과를 알렸으며, 일등친 가족에게만 알린 경우는 68.7%, 일등친과 이등친 이상의 가족에게 돌연변이 사실을 알린 경우는 31.3%였다. 단변량 분석결과 일등친 가족에게만 검사결과를 알린 군이 이등친 또는 삼등친 가족에게 돌연변이 사실을 알린 군에 비해 기혼자의 비율이 더 높았으며, 검사 후 유전상담일로부터 설문조사 시점까지 기간이 유의하게 짧은 것으로 나타났다. 가족에게 돌연변이 사실을 알린 이유에 대해서는 가족들에게 BRCA 유전자 돌연변이 가능성과 유방암 발병위험성을 알리기 위함에 가장 큰 비중을 차지하였다. 결론: 유전성 유방암 가계에서 BRCA 돌연변이 사실에 대한 정보를 보다 많은 가족과 공유하기 위해서는 유전상담 시 환자 개개인의 가계 구조를 파악하여 차별화된 의사소통 방법을 제시해 주어야 할 것이다.

Keywords

References

  1. Wooster R, Weber BL. Breast and ovarian cancer. N Engl J Med 2003;348:2339-47. https://doi.org/10.1056/NEJMra012284
  2. Pasacreta JV. Psychosocial issues associated with genetic testing for breast and ovarian cancer risk: an integrative review. Cancer Invest 2003;21:588-623. https://doi.org/10.1081/CNV-120022380
  3. van Oostrom I, Meijers-Heijboer H, Lodder LN, Duivenvoorden Duivenvoorden HJ, van Gool AR, Seynaeve C, et al. Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study. J Clin Oncol 2003;21:3867-74.
  4. Heshka JT, Palleschi C, Howley H, Wilson B, Wells PS. A systematic review of perceived risks, psychological and behavioral impacts of genetic testing. Genet Med 2008;10:19-32. https://doi.org/10.1097/GIM.0b013e31815f524f
  5. 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. https://doi.org/10.1086/375033
  6. Rebbeck TR, Lynch HT, Neuhausen SL, Narod SA, Van't Veer L, Garber JE, et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 2002;346:1616-22.
  7. Hendrick RE, Smith RA, Rutledge JH 3rd, Smart CR. Benefit of screening mammography in women aged 40-49: a new meta-analysis of randomized controlled trials. J Natl Cancer Inst Monogr 1997:87-92.
  8. 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. https://doi.org/10.1056/NEJM199901143400201
  9. Kim EK, Kim KS, Park SK, Ahn SH, Lee MH, Kim SW, et al. The Korean Hereditary Breast Cancer (KOHBRA) Study: protocol rewiew. J Breast Cancer 2007;10:241-7. https://doi.org/10.4048/jbc.2007.10.4.241
  10. Kang E, Ahn SH, Noh WC, Noh DY, Jung YS, Kim LS, et al. The KOHBAR Study has changed the practive patterns for managing hereditary breast cancer in Korea. J Breast Cancer 2010;13:351-6.
  11. Han SA, Park SK, Ahn SH, Lee MH, Noh DY, Kim LS, et al. The Korean Hereditary Breast Cancer (KOHBRA) Study: Protocols and Interim Report. Clin Oncol 2011;23: 434-41. https://doi.org/10.1016/j.clon.2010.11.007
  12. Foster C, Evans DG, Eeles R, Eccles D, Ashley S, Brooks L, et al. Non-uptake of predictive genetic testing for BRCA1/2 among relatives of known carriers: attributes, cancer worry, and barriers to testing in a multicenter clinical cohort. Genet Test 2004;8:23-9. https://doi.org/10.1089/109065704323016003
  13. McGivern B, Everett J, Yager GG, Baumiller RC, Hafertepen A, Saal HM. Family communication about positive BRCA1 and BRCA2 genetic test results. Genet Med 2004;6:503- 9. https://doi.org/10.1097/01.GIM.0000144014.91237.A1
  14. 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. https://doi.org/10.1001/jama.292.4.442
  15. Kim KS, Kim SW, Lee MH, Ahn SH, Park SK, Korean Breast Cancer Society. Practice patterns of surgeons for the management of hereditary breast cancer in Korea. J Breast Cancer 2008;11:95-101. https://doi.org/10.4048/jbc.2008.11.2.95
  16. Garber JE, Patenaude AF. Ethical, social and counselling issues in hereditary cancer susceptibility. Cancer Surv 1995;25:381-97.
  17. Julian-Reynier C, Eisinger F, Vennin P, Chabal F, Aurran Y, Nogues C, et al. Attitudes towards cancer predictive testing and transmission of information to the family. J Med Genet 1996;33:731-6. https://doi.org/10.1136/jmg.33.9.731
  18. American Society of Clinical Oncology. American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol 2003;21: 2397-406. https://doi.org/10.1200/JCO.2003.03.189
  19. Hughes CH, Lynch H, Durham C, Snyder C, Lemon S, Narod S, et al. Communication of BRCA1/2 test results in hereditary breast cancer families. Cancer Res Ther Control 1999;8:51-9.
  20. Claes E, Evers-Kiebooms G, Boogaerts A, Decruyenaere M, Denayer L, Legius E. Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients. Am J Med Genet A 2003;116A:11-9. https://doi.org/10.1002/ajmg.a.10868
  21. McGivern B, Everett J, Yoger GG, Baumiller RC, Hafertepen A, Saal HM. Family communication about positive BRCA1 and BRCA2 genetic test results. Genet Med 2004;6:503- 9. https://doi.org/10.1097/01.GIM.0000144014.91237.A1
  22. Patenaude AF, Dorval M, DiGianni LS, Schneider KA, Chittenden A, Garber JE. Sharing BRCA1/2 test results with first-degree relatives: factors predicting who women tell. J Clin Oncol 2006;24:700-6. https://doi.org/10.1200/JCO.2005.01.7541
  23. Stoffel EM, Ford B, Mercado RC, Punglia D, Kohlmann W, Conrad P, et al. Sharing genetic test results in Lynch syndrome: communication with close and distant relatives. Clin Gastroenterol Hepatol 2008;6:333-8. https://doi.org/10.1016/j.cgh.2007.12.014
  24. Han SA, Park SK, Ahn SH, Son BH, Lee MH, Choi DH, et al. The Breast and Ovarian Cancer Risks in Korea Due to Inherited Mutations in BRCA1 and BRCA2: A Preliminary Report. J Breast Cancer 2009;12:92-9. https://doi.org/10.4048/jbc.2009.12.2.92