The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study

Eunyoung Kang, Moon Woo Seong, Sue K. Park, Jong Won Lee, Jihyoun Lee, Lee Su Kim, Jeong Eon Lee, Sung Yong Kim, Joon Jeong, Sang Ah Han, Sung Won Kim, Hereditary Breast Cancer Study Group Korean Hereditary Breast Cancer Study Group, Beom Seok Kwak, Byeong Woo Park, Byung Ho Son, Byung In Moon, Cha Kyong Yom, Chan Heun Park, Chan Seok Yoon, Chang Hyun LeeDae Sung Yoon, Dong Young Noh, Doo Ho Choi, Eundeok Chang, Eun Kyu Kim, Eunyoung Kang, Hae Kyung Lee, Hai Lin Park, Hyde Lee, Hyeong Gon Moon, Hyun Ah Kim, Il Kyun Lee, Jihyoun Lee, Jong Han Yu, Joon Jeong, Jung Han Yoon, Jung Hyun Yang, Keumhee Kwak, Ki Tae Hwang, Ku Sang Kim, Lee Su Kim, Min Hee Hur, Min Ho Park, Min Hyuk Lee, Myung Chul Chang, Nam Sun Paik, Sang Ah Han, Sang Seol Jung, Sang Uk Woo, Se Jeong Oh, Sehwan Han, Sei Joong Kim, Sei Hyun Ahn, Seok Jin Nam, Seung Sang Ko, Sung Hoo Jung, Sung Soo Kang, Sung Yong Kim, Sung Won Kim, Tae Hyun Kim, Tae Wan Won, Tae Woo Kang, Wonshik Han, Woo Chul Noh, Yong Lai Park, Yongsik Jung, Young Jin Suh, Young Tae Bae, Young Up Cho, Young Ik Hong, Yoon Joo Jung, Su Yun Choi, Young Bum Yoo, Soo Jung Lee

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80 Citations (Scopus)


The Korean Hereditary Breast Cancer (KOHBRA) study was established to evaluate the prevalence and spectrum of BRCA1/2 mutations in Korean breast cancer patients at risk for hereditary breast and ovarian cancer. A total of 2953 subjects (2403 index patients and 550 family members of affected carriers) from 36 centers participated in this study between May 2007 and December 2013. All participants received genetic counseling and BRCA genetic testing. In total, 378 mutation carriers among 2403 index patients were identified. The prevalence of BRCA mutations in specific subgroups was as follows: 22.3 % (274/1228) for breast cancer patients with a family history of breast/ovarian cancers, 8.8 % (39/441) for patients with early-onset (<35 years) breast cancer without a family history, 16.3 % (34/209) for patients with bilateral breast cancer, 4.8 % (1/21) for male patients with breast cancer, and 37.5 % (3/8) for patients with both breast and ovarian cancer. From an analysis of the mutation spectrum, 63 BRCA1 and 90 BRCA2 different mutations, including 44 novel mutations, were identified. The c.7480 (p.Arg2494Ter) mutation in BRCA2 (10.1 %) was the most commonly identified in this cohort. The KOHBRA study is the largest cohort to identify BRCA mutation carriers in Asia. The results suggest that the prevalence of BRCA mutations in familial breast cancer patients is similar to that among Western cohorts. However, some single risk factors without family histories (early-onset breast cancer, male breast cancer, or multiple organ cancers) may limit the utility of BRCA gene testing in the Korean population.

Original languageEnglish
Pages (from-to)157-168
Number of pages12
JournalBreast Cancer Research and Treatment
Issue number1
Publication statusPublished - 2015 May 1
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2015, Springer Science+Business Media New York.


  • BRCA1 genes
  • BRCA2 genes
  • Breast neoplasms
  • Genetic predisposition
  • Prevalence

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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