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 Kim; Young 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

doi:10.1007/s10689-012-9578-7

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

Department of Surgery

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38 Scopus citations

Abstract

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 language	English
Pages (from-to)	75-81
Number of pages	7
Journal	Familial Cancer
Volume	12
Issue number	1
DOIs	https://doi.org/10.1007/s10689-012-9578-7
State	Published - 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.

Keywords

BRCA1
BRCA2
Hereditary breast neoplasm
Mutation
Prevalence

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10.1007/s10689-012-9578-7

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Han, S. A., Kim, S. W., Kang, E., Park, S. K., Ahn, S. H., Lee, M. H., Nam, S. J., Han, W., Bae, Y. T., Kim, H. A., Cho, Y. U., Chang, M. C., Paik, N. S., Hwang, K. T., Kim, S. J., Noh, D. Y., Choi, D. H., Noh, W. C., Kim, L. S., ... Jung, S. H. (2013). The prevalence of BRCA mutations among familial breast cancer patients in Korea: Results of the Korean Hereditary Breast Cancer study. Familial Cancer, 12(1), 75-81. https://doi.org/10.1007/s10689-012-9578-7

@article{792068ebaa354b2db9d08eca2c6e3604,

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

abstract = "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.",

keywords = "BRCA1, BRCA2, Hereditary breast neoplasm, Mutation, Prevalence",

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

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.",

year = "2013",

month = mar,

doi = "10.1007/s10689-012-9578-7",

language = "English",

volume = "12",

pages = "75--81",

journal = "Familial Cancer",

issn = "1389-9600",

publisher = "Springer Netherlands",

number = "1",

}

Han, SA, Kim, SW, Kang, E, Park, SK, Ahn, SH, Lee, MH, Nam, SJ, Han, W, Bae, YT, Kim, HA, Cho, YU, Chang, MC, Paik, NS, Hwang, KT, Kim, SJ, Noh, DY, Choi, DH, Noh, WC, Kim, LS, Kim, KS, Suh, YJ, Lee, JE, Jung, Y, Moon, BI, Yang, JH, Son, BH, Yom, CK, Kim, SY, Lee, H & Jung, SH 2013, 'The prevalence of BRCA mutations among familial breast cancer patients in Korea: Results of the Korean Hereditary Breast Cancer study', Familial Cancer, vol. 12, no. 1, pp. 75-81. https://doi.org/10.1007/s10689-012-9578-7

TY - JOUR

T1 - The prevalence of BRCA mutations among familial breast cancer patients in Korea

T2 - Results of the Korean Hereditary Breast Cancer study

AU - Han, Sang Ah

AU - Kim, Sung Won

AU - Kang, Eunyoung

AU - Park, Sue K.

AU - Ahn, Sei Hyun

AU - Lee, Min Hyuk

AU - Nam, Seok Jin

AU - Han, Wonshik

AU - Bae, Young Tae

AU - Kim, Hyun Ah

AU - Cho, Young Up

AU - Chang, Myung Chul

AU - Paik, Nam Sun

AU - Hwang, Ki Tae

AU - Kim, Sei Joong

AU - Noh, Dong Young

AU - Choi, Doo Ho

AU - Noh, Woo Chul

AU - Kim, Lee Su

AU - Kim, Ku Sang

AU - Suh, Young Jin

AU - Lee, Jeong Eon

AU - Jung, Yongsik

AU - Moon, Byung In

AU - Yang, Jung Hyun

AU - Son, Byung Ho

AU - Yom, Cha Kyong

AU - Kim, Sung Yong

AU - Lee, Hyde

AU - Jung, Sung Hoo

N1 - 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.

PY - 2013/3

Y1 - 2013/3

N2 - 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.

AB - 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.

KW - BRCA1

KW - BRCA2

KW - Hereditary breast neoplasm

KW - Mutation

KW - Prevalence

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U2 - 10.1007/s10689-012-9578-7

DO - 10.1007/s10689-012-9578-7

M3 - Article

C2 - 23131904

AN - SCOPUS:84873408035

SN - 1389-9600

VL - 12

SP - 75

EP - 81

JO - Familial Cancer

JF - Familial Cancer

IS - 1

ER -

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

Abstract

Bibliographical note

Keywords

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