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, Jeong Eon Lee, Jihyoun Lee, Jong Won 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, Sue K. Park, Yoon Joo Jung, Su Yun Choi, Young Bum Yoo, Soo Jung Lee

Research output: Contribution to journalArticle

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Abstract

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
Volume151
Issue number1
DOIs
Publication statusPublished - 2015 May 1

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Breast Neoplasms
Mutation
Population
Ovarian Neoplasms
Male Breast Neoplasms
Genetic Counseling
Genetic Testing
Spectrum Analysis
Genes
Neoplasms

All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research

Cite this

Kang, Eunyoung ; Seong, Moon Woo ; Park, Sue K. ; Lee, Jong Won ; Lee, Jihyoun ; Kim, Lee Su ; Lee, Jeong Eon ; Kim, Sung Yong ; Jeong, Joon ; Han, Sang Ah ; Kim, Sung Won ; Korean Hereditary Breast Cancer Study Group, Hereditary Breast Cancer Study Group ; Kwak, Beom Seok ; Park, Byeong Woo ; Son, Byung Ho ; Moon, Byung In ; Yom, Cha Kyong ; Park, Chan Heun ; Yoon, Chan Seok ; Lee, Chang Hyun ; Yoon, Dae Sung ; Noh, Dong Young ; Choi, Doo Ho ; Chang, Eundeok ; Kim, Eun Kyu ; Kang, Eunyoung ; Lee, Hae Kyung ; Park, Hai Lin ; Lee, Hyde ; Moon, Hyeong Gon ; Kim, Hyun Ah ; Lee, Il Kyun ; Lee, Jeong Eon ; Lee, Jihyoun ; Lee, Jong Won ; Yu, Jong Han ; Jeong, Joon ; Yoon, Jung Han ; Yang, Jung Hyun ; Kwak, Keumhee ; Hwang, Ki Tae ; Kim, Ku Sang ; Kim, Lee Su ; Hur, Min Hee ; Park, Min Ho ; Lee, Min Hyuk ; Chang, Myung Chul ; Paik, Nam Sun ; Han, Sang Ah ; Jung, Sang Seol ; Woo, Sang Uk ; Oh, Se Jeong ; Han, Sehwan ; Kim, Sei Joong ; Ahn, Sei Hyun ; Nam, Seok Jin ; Ko, Seung Sang ; Jung, Sung Hoo ; Kang, Sung Soo ; Kim, Sung Yong ; Kim, Sung Won ; Kim, Tae Hyun ; Won, Tae Wan ; Kang, Tae Woo ; Han, Wonshik ; Noh, Woo Chul ; Park, Yong Lai ; Jung, Yongsik ; Suh, Young Jin ; Bae, Young Tae ; Cho, Young Up ; Hong, Young Ik ; Park, Sue K. ; Jung, Yoon Joo ; Choi, Su Yun ; Yoo, Young Bum ; Lee, Soo Jung. / The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population : recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. In: Breast Cancer Research and Treatment. 2015 ; Vol. 151, No. 1. pp. 157-168.
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title = "The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study",
abstract = "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.",
author = "Eunyoung Kang and Seong, {Moon Woo} and Park, {Sue K.} and Lee, {Jong Won} and Jihyoun Lee and Kim, {Lee Su} and Lee, {Jeong Eon} and Kim, {Sung Yong} and Joon Jeong and Han, {Sang Ah} and Kim, {Sung Won} and {Korean Hereditary Breast Cancer Study Group}, {Hereditary Breast Cancer Study Group} and Kwak, {Beom Seok} and Park, {Byeong Woo} and Son, {Byung Ho} and Moon, {Byung In} and Yom, {Cha Kyong} and Park, {Chan Heun} and Yoon, {Chan Seok} and Lee, {Chang Hyun} and Yoon, {Dae Sung} and Noh, {Dong Young} and Choi, {Doo Ho} and Eundeok Chang and Kim, {Eun Kyu} and Eunyoung Kang and Lee, {Hae Kyung} and Park, {Hai Lin} and Hyde Lee and Moon, {Hyeong Gon} and Kim, {Hyun Ah} and Lee, {Il Kyun} and Lee, {Jeong Eon} and Jihyoun Lee and Lee, {Jong Won} and Yu, {Jong Han} and Joon Jeong and Yoon, {Jung Han} and Yang, {Jung Hyun} and Keumhee Kwak and Hwang, {Ki Tae} and Kim, {Ku Sang} and Kim, {Lee Su} and Hur, {Min Hee} and Park, {Min Ho} and Lee, {Min Hyuk} and Chang, {Myung Chul} and Paik, {Nam Sun} and Han, {Sang Ah} and Jung, {Sang Seol} and Woo, {Sang Uk} and Oh, {Se Jeong} and Sehwan Han and Kim, {Sei Joong} and Ahn, {Sei Hyun} and Nam, {Seok Jin} and Ko, {Seung Sang} and Jung, {Sung Hoo} and Kang, {Sung Soo} and Kim, {Sung Yong} and Kim, {Sung Won} and Kim, {Tae Hyun} and Won, {Tae Wan} and Kang, {Tae Woo} and Wonshik Han and Noh, {Woo Chul} and Park, {Yong Lai} and Yongsik Jung and Suh, {Young Jin} and Bae, {Young Tae} and Cho, {Young Up} and Hong, {Young Ik} and Park, {Sue K.} and Jung, {Yoon Joo} and Choi, {Su Yun} and Yoo, {Young Bum} and Lee, {Soo Jung}",
year = "2015",
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language = "English",
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pages = "157--168",
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Kang, E, Seong, MW, Park, SK, Lee, JW, Lee, J, Kim, LS, Lee, JE, Kim, SY, Jeong, J, Han, SA, Kim, SW, Korean Hereditary Breast Cancer Study Group, HBCSG, Kwak, BS, Park, BW, Son, BH, Moon, BI, Yom, CK, Park, CH, Yoon, CS, Lee, CH, Yoon, DS, Noh, DY, Choi, DH, Chang, E, Kim, EK, Kang, E, Lee, HK, Park, HL, Lee, H, Moon, HG, Kim, HA, Lee, IK, Lee, JE, Lee, J, Lee, JW, Yu, JH, Jeong, J, Yoon, JH, Yang, JH, Kwak, K, Hwang, KT, Kim, KS, Kim, LS, Hur, MH, Park, MH, Lee, MH, Chang, MC, Paik, NS, Han, SA, Jung, SS, Woo, SU, Oh, SJ, Han, S, Kim, SJ, Ahn, SH, Nam, SJ, Ko, SS, Jung, SH, Kang, SS, Kim, SY, Kim, SW, Kim, TH, Won, TW, Kang, TW, Han, W, Noh, WC, Park, YL, Jung, Y, Suh, YJ, Bae, YT, Cho, YU, Hong, YI, Park, SK, Jung, YJ, Choi, SY, Yoo, YB & Lee, SJ 2015, 'The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study', Breast Cancer Research and Treatment, vol. 151, no. 1, pp. 157-168. https://doi.org/10.1007/s10549-015-3377-4

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population : recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. / Kang, Eunyoung; Seong, Moon Woo; Park, Sue K.; Lee, Jong Won; Lee, Jihyoun; Kim, Lee Su; Lee, Jeong Eon; Kim, Sung Yong; Jeong, Joon; Han, Sang Ah; Kim, Sung Won; Korean Hereditary Breast Cancer Study Group, Hereditary Breast Cancer Study Group; Kwak, Beom Seok; Park, Byeong Woo; Son, Byung Ho; Moon, Byung In; Yom, Cha Kyong; Park, Chan Heun; Yoon, Chan Seok; Lee, Chang Hyun; Yoon, Dae Sung; Noh, Dong Young; Choi, Doo Ho; Chang, Eundeok; Kim, Eun Kyu; Kang, Eunyoung; Lee, Hae Kyung; Park, Hai Lin; Lee, Hyde; Moon, Hyeong Gon; Kim, Hyun Ah; Lee, Il Kyun; Lee, Jeong Eon; Lee, Jihyoun; Lee, Jong Won; Yu, Jong Han; Jeong, Joon; Yoon, Jung Han; Yang, Jung Hyun; Kwak, Keumhee; Hwang, Ki Tae; Kim, Ku Sang; Kim, Lee Su; Hur, Min Hee; Park, Min Ho; Lee, Min Hyuk; Chang, Myung Chul; Paik, Nam Sun; Han, Sang Ah; Jung, Sang Seol; Woo, Sang Uk; Oh, Se Jeong; Han, Sehwan; Kim, Sei Joong; Ahn, Sei Hyun; Nam, Seok Jin; Ko, Seung Sang; Jung, Sung Hoo; Kang, Sung Soo; Kim, Sung Yong; Kim, Sung Won; Kim, Tae Hyun; Won, Tae Wan; Kang, Tae Woo; Han, Wonshik; Noh, Woo Chul; Park, Yong Lai; Jung, Yongsik; Suh, Young Jin; Bae, Young Tae; Cho, Young Up; Hong, Young Ik; Park, Sue K.; Jung, Yoon Joo; Choi, Su Yun; Yoo, Young Bum; Lee, Soo Jung.

In: Breast Cancer Research and Treatment, Vol. 151, No. 1, 01.05.2015, p. 157-168.

Research output: Contribution to journalArticle

TY - JOUR

T1 - The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population

T2 - recent update of the Korean Hereditary Breast Cancer (KOHBRA) study

AU - Kang, Eunyoung

AU - Seong, Moon Woo

AU - Park, Sue K.

AU - Lee, Jong Won

AU - Lee, Jihyoun

AU - Kim, Lee Su

AU - Lee, Jeong Eon

AU - Kim, Sung Yong

AU - Jeong, Joon

AU - Han, Sang Ah

AU - Kim, Sung Won

AU - Korean Hereditary Breast Cancer Study Group, Hereditary Breast Cancer Study Group

AU - Kwak, Beom Seok

AU - Park, Byeong Woo

AU - Son, Byung Ho

AU - Moon, Byung In

AU - Yom, Cha Kyong

AU - Park, Chan Heun

AU - Yoon, Chan Seok

AU - Lee, Chang Hyun

AU - Yoon, Dae Sung

AU - Noh, Dong Young

AU - Choi, Doo Ho

AU - Chang, Eundeok

AU - Kim, Eun Kyu

AU - Kang, Eunyoung

AU - Lee, Hae Kyung

AU - Park, Hai Lin

AU - Lee, Hyde

AU - Moon, Hyeong Gon

AU - Kim, Hyun Ah

AU - Lee, Il Kyun

AU - Lee, Jeong Eon

AU - Lee, Jihyoun

AU - Lee, Jong Won

AU - Yu, Jong Han

AU - Jeong, Joon

AU - Yoon, Jung Han

AU - Yang, Jung Hyun

AU - Kwak, Keumhee

AU - Hwang, Ki Tae

AU - Kim, Ku Sang

AU - Kim, Lee Su

AU - Hur, Min Hee

AU - Park, Min Ho

AU - Lee, Min Hyuk

AU - Chang, Myung Chul

AU - Paik, Nam Sun

AU - Han, Sang Ah

AU - Jung, Sang Seol

AU - Woo, Sang Uk

AU - Oh, Se Jeong

AU - Han, Sehwan

AU - Kim, Sei Joong

AU - Ahn, Sei Hyun

AU - Nam, Seok Jin

AU - Ko, Seung Sang

AU - Jung, Sung Hoo

AU - Kang, Sung Soo

AU - Kim, Sung Yong

AU - Kim, Sung Won

AU - Kim, Tae Hyun

AU - Won, Tae Wan

AU - Kang, Tae Woo

AU - Han, Wonshik

AU - Noh, Woo Chul

AU - Park, Yong Lai

AU - Jung, Yongsik

AU - Suh, Young Jin

AU - Bae, Young Tae

AU - Cho, Young Up

AU - Hong, Young Ik

AU - Park, Sue K.

AU - Jung, Yoon Joo

AU - Choi, Su Yun

AU - Yoo, Young Bum

AU - Lee, Soo Jung

PY - 2015/5/1

Y1 - 2015/5/1

N2 - 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.

AB - 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.

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