Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: The Korean Hereditary Breast Cancer (KOHBRA) Study

Byung Ho Son; Sei Hyun Ahn; Sung Won Kim; Eunyoung Kang; Sue K. Park; Min Hyuk Lee; Woo Chul Noh; Lee Su Kim; Yongsik Jung; Ku Sang Kim; Dong Young Noh; Byung In Moon; Young Jin Suh; Jeong Eon Lee; Doo Ho Choi; Sung Yong Kim; Sung Hoo Jung; Cha Kyong Yom; Hyde Lee; Jung Hyun Yang

doi:10.1007/s10549-012-2001-0

Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: The Korean Hereditary Breast Cancer (KOHBRA) Study

Byung Ho Son, Sei Hyun Ahn, Sung Won Kim, Eunyoung Kang, Sue K. Park, Min Hyuk Lee, Woo Chul Noh, Lee Su Kim, Yongsik Jung, Ku Sang Kim, Dong Young Noh, Byung In Moon, Young Jin Suh, Jeong Eon Lee, Doo Ho Choi, Sung Yong Kim, Sung Hoo Jung, Cha Kyong Yom, Hyde Lee, Jung Hyun Yang

Department of Surgery

Research output: Contribution to journal › Article › peer-review

38 Scopus citations

Abstract

Prevalence and phenotype of BRCA mutation can vary by race. The purpose of this study is to evaluate the prevalence of BRCA1/2 mutations in non-familial breast cancer patients with high risks in Korea. A subset of 758 patients was selected for this study from the KOHBRA nationwide multicenter prospective cohort study. Mutations in BRCA1/2 genes were tested using fluorescent- conformation sensitive gel electrophoresis, denaturing high performance liquid chromatography or direct sequencing. Mutation of BRCA1/2 genes were identified in 65 (8.6%) patients among total 758 patients [BRCA1 mutation: 25 (3.3%), BRCA2 mutation: 40 (5.3%)]. According to risk groups, mutation of BRCA1/2 genes were identified in 53 (8.5%) of 625 early onset patients (age ≤40), in 22 (17.7%) of 124 bilateral breast cancer patients, in 3 (50.0%) of 6 breast and ovarian cancer patients, in one (5.9%) of 17 male breast cancer patients, in 5 cases (7.6%) of 66 multiple organ cancer patients. The most common mutation was 509C>A for BRCA1 and 7708C>T for BRCA2. The prevalence of BRCA1/2 mutations by age in early onset patients was significantly different (age <35 vs age ≥35; 10.0 vs 2.9%, p = 0.0007). BRCA1/2 mutations for non-familial Korean breast cancer patients were detected at a high rate, particularly, in patients with early onset of less than 35 years of age, bilateral breast cancer, and breast and ovarian cancer. Individualized genetic counseling should be offered for non-familial breast cancer patients with these risk factors.

Original language	English
Pages (from-to)	1143-1152
Number of pages	10
Journal	Breast Cancer Research and Treatment
Volume	133
Issue number	3
DOIs	https://doi.org/10.1007/s10549-012-2001-0
State	Published - Jun 2012

Bibliographical note

Funding Information:
Acknowledgments This study was supported by a grant from the National R&D Program for Cancer Control, Ministry of Health & Welfare, Republic of Korea [0720450]; This study was registered at clinicaltrials.gov (NCT0059534). 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.

Keywords

BRCA1
BRCA2
Hereditary breast cancer
Korean
Non-familial
Prevalence

Access to Document

10.1007/s10549-012-2001-0

Cite this

Son, B. H., Ahn, S. H., Kim, S. W., Kang, E., Park, S. K., Lee, M. H., Noh, W. C., Kim, L. S., Jung, Y., Kim, K. S., Noh, D. Y., Moon, B. I., Suh, Y. J., Lee, J. E., Choi, D. H., Kim, S. Y., Jung, S. H., Yom, C. K., Lee, H., & Yang, J. H. (2012). Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: The Korean Hereditary Breast Cancer (KOHBRA) Study. Breast Cancer Research and Treatment, 133(3), 1143-1152. https://doi.org/10.1007/s10549-012-2001-0

@article{f3da16b53ed44ad2afde20b160e04b44,

title = "Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: The Korean Hereditary Breast Cancer (KOHBRA) Study",

abstract = "Prevalence and phenotype of BRCA mutation can vary by race. The purpose of this study is to evaluate the prevalence of BRCA1/2 mutations in non-familial breast cancer patients with high risks in Korea. A subset of 758 patients was selected for this study from the KOHBRA nationwide multicenter prospective cohort study. Mutations in BRCA1/2 genes were tested using fluorescent- conformation sensitive gel electrophoresis, denaturing high performance liquid chromatography or direct sequencing. Mutation of BRCA1/2 genes were identified in 65 (8.6%) patients among total 758 patients [BRCA1 mutation: 25 (3.3%), BRCA2 mutation: 40 (5.3%)]. According to risk groups, mutation of BRCA1/2 genes were identified in 53 (8.5%) of 625 early onset patients (age ≤40), in 22 (17.7%) of 124 bilateral breast cancer patients, in 3 (50.0%) of 6 breast and ovarian cancer patients, in one (5.9%) of 17 male breast cancer patients, in 5 cases (7.6%) of 66 multiple organ cancer patients. The most common mutation was 509C>A for BRCA1 and 7708C>T for BRCA2. The prevalence of BRCA1/2 mutations by age in early onset patients was significantly different (age <35 vs age ≥35; 10.0 vs 2.9%, p = 0.0007). BRCA1/2 mutations for non-familial Korean breast cancer patients were detected at a high rate, particularly, in patients with early onset of less than 35 years of age, bilateral breast cancer, and breast and ovarian cancer. Individualized genetic counseling should be offered for non-familial breast cancer patients with these risk factors.",

keywords = "BRCA1, BRCA2, Hereditary breast cancer, Korean, Non-familial, Prevalence",

author = "Son, {Byung Ho} and Ahn, {Sei Hyun} and Kim, {Sung Won} and Eunyoung Kang and Park, {Sue K.} and Lee, {Min Hyuk} and Noh, {Woo Chul} and Kim, {Lee Su} and Yongsik Jung and Kim, {Ku Sang} and Noh, {Dong Young} and Moon, {Byung In} and Suh, {Young Jin} and Lee, {Jeong Eon} and Choi, {Doo Ho} and Kim, {Sung Yong} and Jung, {Sung Hoo} and Yom, {Cha Kyong} and Hyde Lee and Yang, {Jung Hyun}",

note = "Funding Information: Acknowledgments This study was supported by a grant from the National R&D Program for Cancer Control, Ministry of Health & Welfare, Republic of Korea [0720450]; This study was registered at clinicaltrials.gov (NCT0059534). 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.",

year = "2012",

month = jun,

doi = "10.1007/s10549-012-2001-0",

language = "English",

volume = "133",

pages = "1143--1152",

journal = "Breast Cancer Research and Treatment",

issn = "0167-6806",

publisher = "Springer New York",

number = "3",

}

Son, BH, Ahn, SH, Kim, SW, Kang, E, Park, SK, Lee, MH, Noh, WC, Kim, LS, Jung, Y, Kim, KS, Noh, DY, Moon, BI, Suh, YJ, Lee, JE, Choi, DH, Kim, SY, Jung, SH, Yom, CK, Lee, H & Yang, JH 2012, 'Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: The Korean Hereditary Breast Cancer (KOHBRA) Study', Breast Cancer Research and Treatment, vol. 133, no. 3, pp. 1143-1152. https://doi.org/10.1007/s10549-012-2001-0

TY - JOUR

T1 - Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea

T2 - The Korean Hereditary Breast Cancer (KOHBRA) Study

AU - Son, Byung Ho

AU - Ahn, Sei Hyun

AU - Kim, Sung Won

AU - Kang, Eunyoung

AU - Park, Sue K.

AU - Lee, Min Hyuk

AU - Noh, Woo Chul

AU - Kim, Lee Su

AU - Jung, Yongsik

AU - Kim, Ku Sang

AU - Noh, Dong Young

AU - Moon, Byung In

AU - Suh, Young Jin

AU - Lee, Jeong Eon

AU - Choi, Doo Ho

AU - Kim, Sung Yong

AU - Jung, Sung Hoo

AU - Yom, Cha Kyong

AU - Lee, Hyde

AU - Yang, Jung Hyun

N1 - Funding Information: Acknowledgments This study was supported by a grant from the National R&D Program for Cancer Control, Ministry of Health & Welfare, Republic of Korea [0720450]; This study was registered at clinicaltrials.gov (NCT0059534). 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.

PY - 2012/6

Y1 - 2012/6

N2 - Prevalence and phenotype of BRCA mutation can vary by race. The purpose of this study is to evaluate the prevalence of BRCA1/2 mutations in non-familial breast cancer patients with high risks in Korea. A subset of 758 patients was selected for this study from the KOHBRA nationwide multicenter prospective cohort study. Mutations in BRCA1/2 genes were tested using fluorescent- conformation sensitive gel electrophoresis, denaturing high performance liquid chromatography or direct sequencing. Mutation of BRCA1/2 genes were identified in 65 (8.6%) patients among total 758 patients [BRCA1 mutation: 25 (3.3%), BRCA2 mutation: 40 (5.3%)]. According to risk groups, mutation of BRCA1/2 genes were identified in 53 (8.5%) of 625 early onset patients (age ≤40), in 22 (17.7%) of 124 bilateral breast cancer patients, in 3 (50.0%) of 6 breast and ovarian cancer patients, in one (5.9%) of 17 male breast cancer patients, in 5 cases (7.6%) of 66 multiple organ cancer patients. The most common mutation was 509C>A for BRCA1 and 7708C>T for BRCA2. The prevalence of BRCA1/2 mutations by age in early onset patients was significantly different (age <35 vs age ≥35; 10.0 vs 2.9%, p = 0.0007). BRCA1/2 mutations for non-familial Korean breast cancer patients were detected at a high rate, particularly, in patients with early onset of less than 35 years of age, bilateral breast cancer, and breast and ovarian cancer. Individualized genetic counseling should be offered for non-familial breast cancer patients with these risk factors.

AB - Prevalence and phenotype of BRCA mutation can vary by race. The purpose of this study is to evaluate the prevalence of BRCA1/2 mutations in non-familial breast cancer patients with high risks in Korea. A subset of 758 patients was selected for this study from the KOHBRA nationwide multicenter prospective cohort study. Mutations in BRCA1/2 genes were tested using fluorescent- conformation sensitive gel electrophoresis, denaturing high performance liquid chromatography or direct sequencing. Mutation of BRCA1/2 genes were identified in 65 (8.6%) patients among total 758 patients [BRCA1 mutation: 25 (3.3%), BRCA2 mutation: 40 (5.3%)]. According to risk groups, mutation of BRCA1/2 genes were identified in 53 (8.5%) of 625 early onset patients (age ≤40), in 22 (17.7%) of 124 bilateral breast cancer patients, in 3 (50.0%) of 6 breast and ovarian cancer patients, in one (5.9%) of 17 male breast cancer patients, in 5 cases (7.6%) of 66 multiple organ cancer patients. The most common mutation was 509C>A for BRCA1 and 7708C>T for BRCA2. The prevalence of BRCA1/2 mutations by age in early onset patients was significantly different (age <35 vs age ≥35; 10.0 vs 2.9%, p = 0.0007). BRCA1/2 mutations for non-familial Korean breast cancer patients were detected at a high rate, particularly, in patients with early onset of less than 35 years of age, bilateral breast cancer, and breast and ovarian cancer. Individualized genetic counseling should be offered for non-familial breast cancer patients with these risk factors.

KW - BRCA1

KW - BRCA2

KW - Hereditary breast cancer

KW - Korean

KW - Non-familial

KW - Prevalence

UR - http://www.scopus.com/inward/record.url?scp=84863718506&partnerID=8YFLogxK

U2 - 10.1007/s10549-012-2001-0

DO - 10.1007/s10549-012-2001-0

M3 - Article

C2 - 22382806

AN - SCOPUS:84863718506

SN - 0167-6806

VL - 133

SP - 1143

EP - 1152

JO - Breast Cancer Research and Treatment

JF - Breast Cancer Research and Treatment

IS - 3

ER -

Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: The Korean Hereditary Breast Cancer (KOHBRA) Study

Abstract

Bibliographical note

Keywords

Access to Document

Fingerprint

Cite this