Journal List > J Breast Cancer > v.10(4) > 1036077

Kim, Kim, Park, Ahn, Lee, Kim, and Korean Breast Cancer Society: The Korean Hereditary Breast Cancer (KOHBRA) Study: Protocol Review

Abstract

Purpose

Most epidemiological and clinical studies on BRCA1/2 mutations and the risk of breast cancer have been based on Western cohorts. There have been few such studies for Korean populations. The primary aim of this paper is to report the protocol of a Korean Hereditary Breast Cancer (KOHBRA) study.

Methods

The multi-centers registered in the Korean Breast Cancer Society are participating in the KOHBRA study. The objectives of the KOHBRA study till 2010 is to examine the prevalence of BRCA1/2 mutation and the prevalence of ovarian cancer among the high risk group of hereditary breast cancer patients and their families. This study is a prospective cohort study that recruited 2,250 subjects: 1) who were breast cancer patients with a family history of breast or ovarian cancers, 2) who were patients with a high risk of BRCA1/2 mutations (i.e. early onset, bilateral, male, multiple primary cancers), and 3) who had family members that were BRCA1/2 mutation carriers. The recruiting period will cover the 25th of May 2007 to the 24th of May 2010. Written informed consent is obtained at the time of enrollment. The family history and epidemiological data are obtained by a baseline questionnaire, the anthropometric data is measured and the clinical information is collected by chart-reviews by doctors. BRCA1/2 mutation testing and ovarian cancer screening are done. Blood samples are stored. Follow-up data are collected at 1, 3 and 5 yr after enrollment.

Results

Until now, 36 centers have joined the KOHBRA study and they are in the process of Institutional Review Board (IRB) approval. We expect to find the Korean founder mutation and to establish the Korean BRCA risk prediction model. Furthermore, the BRCA carrier cohort established from the KOHBRA study will be the groundwork to participate in an international study.

Conclusion

The KOHBRA study will provide unique, important data to prove the etiology and natural history of Korean hereditary breast cancer. This study will be continued as genomic and proteomic epidemiological studies and future intervention studies for the prevention of hereditary breast cancer among Koreans.

Figures and Tables

Fig 1
Flow chart of KOHBRA study.
jbc-10-241-g001
Fig 2
Study design of KOHBRA study.
jbc-10-241-g002

References

1. Friedman LS, Ostermeyer EA, Szabo CI, Dowd P, Lynch ED, Rowell SE, et al. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat Genet. 1994. 8:399–404.
crossref
2. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995. 378:789–792.
crossref
3. Claus EB, Schildkraut JM, Thompson WD, Risch NJ. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996. 77:2318–2324.
crossref
4. Kang DH, Kim SW, Noh DY, Ahn YO, Ryu KY. Korean Breast Cancer Society. Epidemiology of Breast Cancer. The Breast. 2005. 2nd ed. Ilchokak;168–188.
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. 72:1117–1130.
crossref
6. Jeong J. Korean Breast Cancer Society. Nationwide Korean breast cancer data of 2004 using breast cancer registration program. J Breast Cancer. 2006. 9:151–161.
crossref
7. Ahn SH, Yoo KY. Korean Breast Cancer Society. Chronological changes of clinical characteristics in 31,115 new breast cancer patients among Koreans during 1996-2004. Breast Cancer Res Treat. 2006. 99:209–214.
crossref
8. Oh JH, Noh DY, Choe KJ, Kang SB, Kim LS, Ro MS, et al. Germline Mutation of BRCA1 Gene in Korean Breast and Overian Cancer Patients. J Korean Cancer Assoc. 1995. 27:1061–1069.
9. Kang HC, Kim IJ, Park JH, Kwon HJ, Won YJ, Heo SC, et al. Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families. Hum Mutat. 2002. 20:235.
crossref
10. Ahn SH, Hwang UK, Kwak BS, Yoon HS, Ku BK, Kang HJ, et al. Prevalence of BRCA1 and BRCA2 mutations in Korean breast cancer patients. J Korean Med Sci. 2004. 19:269–274.
crossref
11. Choi DH, Lee MH, Bale AE, Carter D, Haffty BG. Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients. J Clin Oncol. 2004. 22:1638–1645.
crossref
12. Han SH, Lee KR, Lee DG, Kim BY, Lee KE, Chung WS. Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer. Clin Genet. 2006. 70:496–501.
crossref
13. Ahn SH, Son BH, Yoon KS, Noh DY, Han W, Kim SW, et al. BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations. Cancer Lett. 2007. 245:90–95.
crossref
14. Breast Cancer Information Core (BIC) database. accessed 2007 Sept 24. National Human Genome Research Institute;http://research.nhgri.nih.gov/projects/bic/Member/index.shtm.
15. Couch FJ, DeShano ML, Blackwood MA, Calzone K, Stopfer J, Campeau L, et al. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med. 1997. 336:1409–1415.
crossref
16. Parmigiani G, Berry D, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet. 1998. 62:145–158.
crossref
17. 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. 20:1480–1490.
crossref
18. Kazerouni N, Greene MH, Lacey JV Jr, Mink PJ, Schairer C. Family history of breast cancer as a risk factor for ovarian cancer in a prospective study. Cancer. 2006. 107:1075–1083.
crossref
19. Satagopan JM, Boyd J, Kauff ND, Robson M, Scheuer L, Narod S, et al. Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. Clin Cancer Res. 2002. 8:3776–3781.
20. Lee JS, John EM, McGuire V, Felberg A, Ostrow KL, DiCioccio RA, et al. Breast and ovarian cancer in relatives of cancer patients, with and without BRCA mutations. Cancer Epidemiol Biomarkers Prev. 2006. 15:359–363.
crossref
21. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, et al. The Breast Cancer Linkage Consortium. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet. 1998. 62:676–689.
crossref
22. Kim SW, Lee CS, Fey JV, Borgen PI, Boyd J. Prevalence of BRCA2 mutations in a hospital based series of unselected breast cancer cases. J Med Genet. 2005. 42.
crossref
23. Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, et al. BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA. 1997. 278:1242–1250.
crossref
24. Johannesdottir G, Gudmundsson J, Bergthorsson JT, Arason A, Agnarsson BA, Eiriksdottir G, et al. High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients. Cancer Res. 1996. 56:3663–3665.
25. Clinical practice guidelines in oncology - v.1.2007. accessed 2007 Sept 24. National Comprehensive Cancer Network;http://www.nccn.org/professionals/physician_gls/PDF.
26. Narod SA, Offit K. Prevention and management of hereditary breast cancer. J Clin Oncol. 2005. 23:1656–1663.
crossref
27. Warner E, Foulkes W, Goodwin P, Meschino W, Blondal J, Paterson C, et al. Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl Cancer Inst. 1999. 91:1241–1247.
crossref
28. International BRCA1/2 Carrier Cohort Study (IBCCS). accessed Sept. 24, 2007. International Agency for Research on Cancer;http://www-gep.iarc.fr/ibccs.
29. Lee SK, Sobal J. Socio-economic, dietary, activity, nutrition and body weight transitions in South Korea. Public Health Nutr. 2003. 6:665–674.
crossref
30. Hwang JY, Shin C, Frongillo EA, Shin KR, Jo I. Secular trend in age at menarche for South Korean women born between 1920 and 1986: the Ansan Study. Ann Hum Biol. 2003. 30:434–442.
crossref
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