Hereditary Breast Cancer in Korea: A Review of the Literature

Byung Ho Son; Sei Hyun Ahn; Min Hyuk Lee; Sue Kyung Park; Sung-Won Kim

doi:10.4048/jbc.2008.11.1.1

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Son, Ahn, Lee, Park, Kim, and Korean Breast Cancer Society: Hereditary Breast Cancer in Korea: A Review of the Literature

Original Article

Journal of Breast Cancer

Journal of Breast Cancer 2008; 11(1): 1-9.

Published online: 31 March 2008

DOI: https://doi.org/10.4048/jbc.2008.11.1.1

Hereditary Breast Cancer in Korea: A Review of the Literature

Byung Ho Son, , Sei Hyun Ahn, , Min Hyuk Lee, ¹, Sue Kyung Park, ², Sung-Won Kim, ³; Korean Breast Cancer Society

Department of Surgery, Ulsan University College of Medicine and Asan Medical Center, Seoul, Korea.

¹Department of Surgery, Soonchunhyang University College of Medicine, Seoul, Korea.

²Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea.

³Department of Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.

Korean Breast Cancer Society, Seoul, Korea.

ahnsh@amc.seoul.kr

Abstract

Hereditary breast carcinomas associated with BRCA1/2 mutations have unique clinicopathological and epidemiological characteristics. The objective of this study is to outline the prevalence, founder effect and clinicopathological characteristics of BRCA1/2 mutations for hereditary breast cancers from an analysis of reports recently published regarding Korean subjects.

The prevalence of BRCA1 and/or BRCA2 mutations is 2.5-3.1% for sporadic breast cancers, 19.4-42.9% for familiar breast cancer patients with two or more affected first- and second- degree relatives with breast or ovarian cancers and 9.6-18.3% for early breast cancers. Common mutations for the Korean subjects were 2552delC, 3476insA, 4184del4, 5589del8, and 5615del111insA for BRCA1; and 7708C>T for BRCA2. These mutations were not found in Ashkenazi Jewish or Icelandic subjects. The proportion of estrogen or progesterone receptor (ER/PR) or ER/PR/HER2 triple negative status, basal-like phenotype as detected by immunohistochemical staining, and undifferentiated histological grade in Korean BRCA mutation subjects were higher than in subjects lacking BRCA1/2 mutations.

Our review found that previous studies describing BRCA mutations among Korean subjects were limited. Since the clinicopathological, phenotypic and epidemiological characteristics of the BRCA1/2 mutations among Korean subjects are different from those among subjects from the Americas and Europe, more studies of hereditary or familial breast cancer including BRCA mutations must be conducted. A largescale prospective study called Korean Hereditary Breast Cancer Study (KOHBRA) was started from May 2007, and future information provided by the KOHBRA study will make a substantial contribution to solving the basic questions in etiology, individual susceptibility and clinicopathological characteristics for hereditary breast cancer among Korean subjects.

Keywords: Korean hereditary breast cancer, BRCA1, BRCA2, Prevalence, Founder mutation

Figures and Tables

Table 1

Prevalence of BRCA1 and BRCA2 mutations in Korean sporadic breast cancer patients

Table 2

Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients with two or more affected first- or second-degree relatives with breast and/or ovarian cancers

Table 3

Prevalence of BRCA1 and BRCA2 mutations in patients with early-onset breast cancer

Table 4

Possible candidates for founder mutations in Korean which were found 3 times or more in different families

^*References: Kang et al.(27), Choi et al.(28), Seo et al.(29), Ahn et al. (31), Han et al.(32); ??Reported only in Korean patients.

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