Korean Hereditary Breast Cancer

Sung-Won Kim

doi:10.5124/jkma.2009.52.10.952

J Korean Med Assoc > Volume 52(10); 2009 > Article

Kim: Korean Hereditary Breast Cancer

Focused Issue of This Month

Breast Cancer

Journal of the Korean Medical Association

Journal of the Korean Medical Association 2009; 52(10): 952-962.

Published online: October 31, 2009

DOI: http://dx.doi.org/10.5124/jkma.2009.52.10.952

Korean Hereditary Breast Cancer

Sung-Won Kim, MD

Department of Surgery, Seoul National University College of Medicine, Korea. brcakorea@gmail.com

Abstract

Approximately 7% of all breast cancer cases are associated with hereditary predisposition and BRCA1 and BRCA2 gene, which accounts for half of the hereditary breast cancer (HBC). Although majority of breast cancer occur sporadically, identification of HBC is important in that active adoption of preventive strategies such as surveillance, chemoprevention, and risk-reducing surgery will result in the gain of life-expectancy. According to the recent studies, the prevalence and penetrance of BRCA mutation in Korean breast cancer patients are comparable to that of western countries. Genetic testing should be done in the setting of genetic counseling, which provides the patients with comprehensive information about the test procedure, the interpretation of the test result, and possible options when the test results were positive for mutation. The management of HBC is not different from that of sporadic cancer and many clinical trials investigating the chemoprevention and targeted therapy of HBC are underway. The Korean Hereditary Breast Cancer (KOHBRA) study is a nationwide multicenter study to reveal the prevalence of BRCA mutation in Korean breast cancer patients. After the completion of the KOHBRA study, we expect important basic data which will be the backbone of clinical practice guideline for Korean HBC patients.

Hereditary breast cancer; BRCA1; BRCA2; KOHBRA study

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Table 1

Genes known to be associated with a hereditary predisposition to breast cancer (Adapted from reference (4) with permission)

^*High-penetrance mutations are associated with a prominent family history of breast cancer and a high risk of breast cancer. Mutations with a low-to-moderate penetrance are associated with a smaller increase in the risk of breast cancer and a less prominent family history of breast cancer. References for genes in the table are listed in the Supplementary Appendix, which is available with the full text of this article at www.nejm.org. HBOC denotes hereditary breast and ovarian cancer syndrome, and NA not available.

^†Prostate cancer does not occur at an earlier age than in the general population.

Table 2

Key pathological characteristics of BRCA1-and BRCA2-associated breast cancers (Adapted from reference (29) with permission)