pISSN 1738-6756   eISSN 2092-9900
Open Access, Peer-reviewed
    J Breast Cancer. 2008 Mar;11(1):1-9. Korean.
    Published online Mar 31, 2008.
    https://doi.org/10.4048/jbc.2008.11.1.1
    Copyright © 2008 Korean Breast Cancer Society
    Original Article

    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 and 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.

    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

    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

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    MeSH Terms
    Americas
    Breast
    Breast Neoplasms
    Estrogens
    Europe
    Founder Effect
    Humans
    Iceland
    Ovarian Neoplasms
    Phenotype
    Prevalence
    Receptors, Progesterone
    Metrics
    Share
    Tables
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