Skip to main content

Advertisement

Log in

Willingness of Japanese patients with breast cancer to have genetic testing of BRCA without burden of expenses

  • Original Article
  • Published:
Breast Cancer Aims and scope Submit manuscript

Abstract

Background

Genetic analysis for individuals who are at risk for hereditary breast and ovarian cancer syndrome (HBOC) has becoming widely accepted. The poor introduction of the genetic testing of BRCA in Japan compared with western countries could be due to insufficient recognition of its importance, prejudice against a heredity disease, especially in non-urban districts, and its high cost. There is few available data regarding the acceptance or willingness to have genetic testing among Japanese who are at risk and living outside Tokyo.

Methods

Of 670 patients seen and detailed family history taken at our hospital, located non-urban, 30 (4 %) gave the family history of breast cancer in more than 2 members within the second degree relatives (“stronger” family history group), 92 (14 %) in 1 member (“weaker” group), and 548 (82 %) in none of members (“sporadic” group). Then, we selected 107 (24 from “stronger”, 50 from “weaker”, 33 from “sporadic” family history group) to see if they are willing to receive cost-free genetic testing of BRCA 1 and BRCA2.

Results

Ninety-two of 107 (86 %) patients agreed and 15 (14 %) refused. The rate of refusal for BRCA testing was higher in “stronger family history group” (6/24, 25 %) compared to “weaker” (7/50, 14 %) or “sporadic” (2/33, 6 %) (p = 0.04), respectively.

Conclusions

These data indicate that the currently available preventive measures and/or counseling system may not be sufficient enough to convince the high risk population to receive the genetic testing or to overcome the prejudice in non-urban area in Japan, even if served free.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

Similar content being viewed by others

References

  1. Monitering of Cancer Incidence in Japan MCIJ 2010. http://ganjoho.jp/data/professional/statistics/backnumber/2013/fig01.pdf. Accessed 6 Dec 2014.

  2. NCCN Clinical Practice Guidelines in Oncology, High-risk genetic/familial assessment in breast and ovary. Version 2012. http://www.tri-kobe.org/nccn/guideline/gynecological/english/genetic_familial.pdf. Accessed 6 Dec 2014.

  3. Melchor L, Benitez J. The complex genetic landscape of familial breast cancer. Hum Genet. 2013;132:845–63.

    Article  CAS  PubMed  Google Scholar 

  4. 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Bowless JM, Eggingto KR, Moyes K, et al. A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes. Clini Genet. 2013;. doi:10.11111/cge.12315.

    Google Scholar 

  6. Yoshimoto T. Research progress in hereditary breast cancer tests to know the risks. http://www.tokyo-np.co.jp/article/living/health/CK2014112502000185.html. Accessed 14 Nov 2014.

  7. Hirotsu Y, Nakagomi H, Sakamoto I, et al. Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing. Mol Genet Genomic Med. 2015;3:121–9.

    Article  CAS  PubMed  Google Scholar 

  8. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266:66–71.

    Article  CAS  PubMed  Google Scholar 

  9. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995;378:789–92.

    Article  CAS  PubMed  Google Scholar 

  10. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol. 2002;20:1480–90.

    Article  CAS  PubMed  Google Scholar 

  11. 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;286:2251–6.

    Article  CAS  PubMed  Google Scholar 

  12. Duffy SW, Nixon RM. Estimates of the likely prophylactic effect of tamoxifen in women with high risk BRCA1 and BRCA2 mutations. Br J Cancer. 2002;86:218–21.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. 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;22:1055–62.

    Article  PubMed  Google Scholar 

  14. Metcalfe KA, Lubinski J, Ghadirian P, Lynch H, Kim-Sing C, Friedman E, et al. Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the Hereditary Breast Cancer Clinical Study Group. J Clin Oncol. 2008;26:1093–7.

    Article  PubMed  Google Scholar 

  15. Arai M, Utsunomiya J, Miki Y. Familial breast and ovarian cancers. Int J Clin Oncol. 2004;9:270–82.

    Article  CAS  PubMed  Google Scholar 

  16. Bando H. Issues of concern in risk assessment, genetic counseling, and genetic testing of younger breast cancer patients in Japan. Breast Cancer. 2014;21:656–63.

    Article  PubMed  Google Scholar 

  17. Bando H, Shimizu C,Yamamoto S, Mizota Y, Katou T. Current situation Survay on provision of information about hereditary breast by Japanese physician to young breast cancer patients (abstract) J Japan Soc Clin Oncol. 2011;452;MS1–6.

  18. Genetic Information Non-Discrimination Act of 2008. H.R. 493, 110th Cong:2007–2008.

  19. Lee JM, Ledermann JA, Kohn EC. PARP Inhibitors for BRCA1/2 mutation-associated and BRCA-like malignancies. Ann Oncol. 2014;25:32–40.

    Article  PubMed  Google Scholar 

  20. Gelmon KA, Tischkowitz M, Mackay H, Swenerton K, Robidoux A, Tonkin K, et al. Olaparib in patients with recurrent high-grade serous or poorly differentiated ovarian carcinoma or triple-negative breast cancer: a phase 2, multicentre, open-label, non-randomised study. Lancet Oncol. 2011;12:852–61.

    Article  CAS  PubMed  Google Scholar 

  21. Ledermann J, Harter P, Gourley C, Friedlander M, Vergote I, Rustin G, et al. Olaparib maintenance therapy in platinum-sensitive relapsed ovarian cancer. N Engl J Med. 2012;366:1382–92.

    Article  CAS  PubMed  Google Scholar 

  22. Ledermann J, Harter P, Gourley C, Friedlander M, Vergote I, Rustin G, et al. Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial. Lancet Oncol. 2014;15:852–61.

    Article  CAS  PubMed  Google Scholar 

  23. Ledford H. Resurrected cancer drug faces regulators. Nature. 2014;510:454.

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

We thank Takuro Uchida, Yumi Kubota and Shino Kirito for their assistance. This study was approved by the institutional review board at Yamanashi Prefectural Central Hospital and funded by Grant-in-aid for Genome Research program from Yamanashi Prefecture.

Conflict of interest

None to disclosure.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Hiroshi Nakagomi.

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Nakagomi, H., Sakamoto, I., Hirotsu, Y. et al. Willingness of Japanese patients with breast cancer to have genetic testing of BRCA without burden of expenses. Breast Cancer 23, 649–653 (2016). https://doi.org/10.1007/s12282-015-0618-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12282-015-0618-7

Keywords

Navigation