The prevalence of BRCA mutations among familial breast cancer patients in Korea: Results of the Korean Hereditary Breast Cancer study

Sang Ah Han, Sung Won Kim, Eunyoung Kang, Sue K. Park, Sei Hyun Ahn, Min Hyuk Lee, Seok Jin Nam, Wonshik Han, Young Tae Bae, Hyun Ah Kim, Young Up Cho, Myung Chul Chang, Nam Sun Paik, Ki Tae Hwang, Sei Joong Kim, Dong Young Noh, Doo Ho Choi, Woo Chul Noh, Lee Su Kim, Ku Sang KimYoung Jin Suh, Jeong Eon Lee, Yongsik Jung, Byung In Moon, Jung Hyun Yang, Byung Ho Son, Cha Kyong Yom, Sung Yong Kim, Hyde Lee, Sung Hoo Jung

Research output: Contribution to journalArticlepeer-review

38 Scopus citations


The primary aim of this study was to estimate the prevalence of BRCA1/2 mutations among familial breast cancer (BC) patients in Korea. We analyzed 775 familial BC patients who were enrolled in the Korean Hereditary Breast Cancer (KOHBRA) study and treated at 36 institutions between May 2007 and May 2010. Patients with familial BC were defined as BC patients with family histories of BC or ovarian cancer (OC) in any relatives. All probands received genetic counseling and BRCA genetic testing was performed after obtaining informed consent. The mean age of BC diagnosis was 43.6 years. The numbers of probands with family histories of BC only and OC only were 682 and 93, respectively. The overall prevalence of the BRCA mutation among familial BC patients was 21.7 % (BRCA1 9.3 % and BRCA2 12.4 %). Subgroup analyses observed prevalences of the BRCA mutation as follows: 19.6 % among patients with BC family history only (BRCA1 7.6 % and BRCA2 12.0 %) and 36.6 % among patients with OC family history only (BRCA1 21.5 % and BRCA2 15.1 %). Most of the subgroups satisfied the 10 % probability criteria to undergo BRCA testing. However, the prevalence of the BRCA mutations among subgroups that had 2 BC patients in a family with both age at diagnosis of more than 50 years old did not reach the 10 % criteria (4.1 %). Korean familial BC patients are good candidates for BRCA testing even when they have family histories of single breast cancers. However, proband age at diagnosis should be carefully considered when selecting patients for testing.

Original languageEnglish
Pages (from-to)75-81
Number of pages7
JournalFamilial Cancer
Issue number1
StatePublished - Mar 2013

Bibliographical note

Funding Information:
Acknowledgments This study was supported by a grant from the National R&D Program for Cancer Control, Ministry for Health, Welfare and Family affairs, Republic of Korea (#0720450). We thank all participants and investigators of the KOHBRA study: Beom Seok Kwak, Byeong-Woo Park, Byung Ho Son, Byung-In Moon, Cha Kyong Yom, Chan Heun Park, Chan Seok Yoon, Chang Hyun Lee, Dae 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, Jeong Eon Lee, Jong Won Lee, Jong-Han Yu, Joon Jeong, Jung-Hyun Yang, Keumhee Kwak, Ki-Tae Hwang, Ku Sang Kim, Lee Su Kim, Min Hee Hur, 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 Woo Kang, Wonshik Han, Woo-Chul Noh, Yong Lai Park, Yongsik Jung, Young Jin Suh, Young Tae Bae, Young Up Cho, Young-Ik Hong, Sue K. Park, Yoon Joo Jung, Su Yun Choi, Young Bum Yoo, Soo-Jung Lee.


  • BRCA1
  • BRCA2
  • Hereditary breast neoplasm
  • Mutation
  • Prevalence


Dive into the research topics of 'The prevalence of BRCA mutations among familial breast cancer patients in Korea: Results of the Korean Hereditary Breast Cancer study'. Together they form a unique fingerprint.

Cite this