A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients

Moon Woo Seong, Kyu Hyung Kim, Il Yong Chung, Eunyoung Kang, Jong Won Lee, Sue K. Park, Min Hyuk Lee, Jeong Eon Lee, Dong Young Noh, Byung Ho Son, Hai Lin Park, Sung Im Cho, Sung Sup Park, Sung Won Kim, Beom Seok Kwak, Byeong Woo Park, Byung In Moon, Cha Kyong Yom, Chan Heun Park, Chan Seok YoonChang Hyun Lee, Dae Sung Yoon, Doo Ho Choi, Eundeok Chang, Eun Kyu Kim, Hae Kyung Lee, 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, 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, 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

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Triple-negative breast cancer (TNBC) accounts for 12-24 % of all breast cancers. Here, we studied 221 familial breast and/or ovarian cancer patients from 37 hospitals using a comprehensive approach to identify large genomic rearrangements (LGRs) as well as sequence variants, and investigated the association between BRCA1/2 mutational status and TNBC. We performed direct sequencing or mutation scanning followed by direct sequencing. Then, 143 BRCA1/2 mutation-negative patients were screened for LGRs. In this study, the prevalence of BRCA1/2 mutations was high (36.9 %). The prevalence of BRCA1 mutations was similar to that of BRCA2 mutations: 49.4 versus 50.6 %, respectively. TNBC was diagnosed in 35.2 % of BRCA1/2 mutation carriers and 57.1 % of BRCA1 mutation carriers. Conversely, two-thirds of TNBC patients carried BRCA1/2 mutation(s), and about half were BRCA1 mutation carriers. When stratified by the mutated gene, TNBC prevalence in BRCA1 mutation carriers was significantly lower when there was a family history of ovarian cancer. Our multinomial logistic regression model demonstrated that no single factor was sufficient, and at least two factors, such as a patient with family history of both breast cancer and ovarian cancer or a patient diagnosed at a relatively young age (<40 years) with a TNBC phenotype, are necessary to indicate BRCA1/2 genetic testing in this population. Our results suggest that TNBC is a strong predictor for the presence of a BRCA1 mutation in this population, but additional risk factors should also be evaluated to ascertain a 10 % or higher prior probability of BRCA1/2 mutation testing.

Original languageEnglish
Pages (from-to)63-69
Number of pages7
JournalBreast Cancer Research and Treatment
Volume146
Issue number1
DOIs
Publication statusPublished - 2014 Jul

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Triple Negative Breast Neoplasms
Mutation
Ovarian Neoplasms
Familial Breast Cancer
Logistic Models
Breast Neoplasms
Genetic Testing
Population

All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research

Cite this

Seong, Moon Woo ; Kim, Kyu Hyung ; Chung, Il Yong ; Kang, Eunyoung ; Lee, Jong Won ; Park, Sue K. ; Lee, Min Hyuk ; Lee, Jeong Eon ; Noh, Dong Young ; Son, Byung Ho ; Park, Hai Lin ; Cho, Sung Im ; Park, Sung Sup ; Kim, Sung Won ; Kwak, Beom Seok ; Park, Byeong Woo ; Moon, Byung In ; Yom, Cha Kyong ; Park, Chan Heun ; Yoon, Chan Seok ; Lee, Chang Hyun ; Yoon, Dae Sung ; Choi, Doo Ho ; Chang, Eundeok ; Kim, Eun Kyu ; Lee, Hae Kyung ; Lee, Hyde ; Moon, Hyeong Gon ; Kim, Hyun Ah ; Lee, Il Kyun ; Lee, Jihyoun ; 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 ; 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, 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 ; Jung, Yoon Joo ; Choi, Su Yun ; Yoo, Young Bum ; Lee, Soo Jung. / A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients. In: Breast Cancer Research and Treatment. 2014 ; Vol. 146, No. 1. pp. 63-69.
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title = "A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients",
abstract = "Triple-negative breast cancer (TNBC) accounts for 12-24 {\%} of all breast cancers. Here, we studied 221 familial breast and/or ovarian cancer patients from 37 hospitals using a comprehensive approach to identify large genomic rearrangements (LGRs) as well as sequence variants, and investigated the association between BRCA1/2 mutational status and TNBC. We performed direct sequencing or mutation scanning followed by direct sequencing. Then, 143 BRCA1/2 mutation-negative patients were screened for LGRs. In this study, the prevalence of BRCA1/2 mutations was high (36.9 {\%}). The prevalence of BRCA1 mutations was similar to that of BRCA2 mutations: 49.4 versus 50.6 {\%}, respectively. TNBC was diagnosed in 35.2 {\%} of BRCA1/2 mutation carriers and 57.1 {\%} of BRCA1 mutation carriers. Conversely, two-thirds of TNBC patients carried BRCA1/2 mutation(s), and about half were BRCA1 mutation carriers. When stratified by the mutated gene, TNBC prevalence in BRCA1 mutation carriers was significantly lower when there was a family history of ovarian cancer. Our multinomial logistic regression model demonstrated that no single factor was sufficient, and at least two factors, such as a patient with family history of both breast cancer and ovarian cancer or a patient diagnosed at a relatively young age (<40 years) with a TNBC phenotype, are necessary to indicate BRCA1/2 genetic testing in this population. Our results suggest that TNBC is a strong predictor for the presence of a BRCA1 mutation in this population, but additional risk factors should also be evaluated to ascertain a 10 {\%} or higher prior probability of BRCA1/2 mutation testing.",
author = "Seong, {Moon Woo} and Kim, {Kyu Hyung} and Chung, {Il Yong} and Eunyoung Kang and Lee, {Jong Won} and Park, {Sue K.} and Lee, {Min Hyuk} and Lee, {Jeong Eon} and Noh, {Dong Young} and Son, {Byung Ho} and Park, {Hai Lin} and Cho, {Sung Im} and Park, {Sung Sup} and Kim, {Sung Won} and Kwak, {Beom Seok} and Park, {Byeong Woo} 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 Choi, {Doo Ho} and Eundeok Chang and Kim, {Eun Kyu} and Lee, {Hae Kyung} and Hyde Lee and Moon, {Hyeong Gon} and Kim, {Hyun Ah} and Lee, {Il Kyun} and Jihyoun Lee 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 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, {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 Jung, {Yoon Joo} and Choi, {Su Yun} and Yoo, {Young Bum} and Lee, {Soo Jung}",
year = "2014",
month = "7",
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language = "English",
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journal = "Breast Cancer Research and Treatment",
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Seong, MW, Kim, KH, Chung, IY, Kang, E, Lee, JW, Park, SK, Lee, MH, Lee, JE, Noh, DY, Son, BH, Park, HL, Cho, SI, Park, SS, Kim, SW, Kwak, BS, Park, BW, Moon, BI, Yom, CK, Park, CH, Yoon, CS, Lee, CH, Yoon, DS, Choi, DH, Chang, E, Kim, EK, Lee, HK, Lee, H, Moon, HG, Kim, HA, Lee, IK, Lee, J, Yu, JH, Jeong, J, Yoon, JH, Yang, JH, Kwak, K, Hwang, KT, Kim, KS, Kim, LS, Hur, MH, Park, 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, TH, Won, TW, Kang, TW, Han, W, Noh, WC, Park, YL, Jung, Y, Suh, YJ, Bae, YT, Cho, YU, Hong, YI, Jung, YJ, Choi, SY, Yoo, YB & Lee, SJ 2014, 'A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients', Breast Cancer Research and Treatment, vol. 146, no. 1, pp. 63-69. https://doi.org/10.1007/s10549-014-3006-7

A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients. / Seong, Moon Woo; Kim, Kyu Hyung; Chung, Il Yong; Kang, Eunyoung; Lee, Jong Won; Park, Sue K.; Lee, Min Hyuk; Lee, Jeong Eon; Noh, Dong Young; Son, Byung Ho; Park, Hai Lin; Cho, Sung Im; Park, Sung Sup; Kim, Sung Won; Kwak, Beom Seok; Park, Byeong Woo; Moon, Byung In; Yom, Cha Kyong; Park, Chan Heun; Yoon, Chan Seok; Lee, Chang Hyun; Yoon, Dae Sung; Choi, Doo Ho; Chang, Eundeok; Kim, Eun Kyu; Lee, Hae Kyung; Lee, Hyde; Moon, Hyeong Gon; Kim, Hyun Ah; Lee, Il Kyun; Lee, Jihyoun; 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; 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, 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; Jung, Yoon Joo; Choi, Su Yun; Yoo, Young Bum; Lee, Soo Jung.

In: Breast Cancer Research and Treatment, Vol. 146, No. 1, 07.2014, p. 63-69.

Research output: Contribution to journalArticle

TY - JOUR

T1 - A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients

AU - Seong, Moon Woo

AU - Kim, Kyu Hyung

AU - Chung, Il Yong

AU - Kang, Eunyoung

AU - Lee, Jong Won

AU - Park, Sue K.

AU - Lee, Min Hyuk

AU - Lee, Jeong Eon

AU - Noh, Dong Young

AU - Son, Byung Ho

AU - Park, Hai Lin

AU - Cho, Sung Im

AU - Park, Sung Sup

AU - Kim, Sung Won

AU - Kwak, Beom Seok

AU - Park, Byeong Woo

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 - Choi, Doo Ho

AU - Chang, Eundeok

AU - Kim, Eun Kyu

AU - Lee, Hae Kyung

AU - Lee, Hyde

AU - Moon, Hyeong Gon

AU - Kim, Hyun Ah

AU - Lee, Il Kyun

AU - Lee, Jihyoun

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 - 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, 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 - Jung, Yoon Joo

AU - Choi, Su Yun

AU - Yoo, Young Bum

AU - Lee, Soo Jung

PY - 2014/7

Y1 - 2014/7

N2 - Triple-negative breast cancer (TNBC) accounts for 12-24 % of all breast cancers. Here, we studied 221 familial breast and/or ovarian cancer patients from 37 hospitals using a comprehensive approach to identify large genomic rearrangements (LGRs) as well as sequence variants, and investigated the association between BRCA1/2 mutational status and TNBC. We performed direct sequencing or mutation scanning followed by direct sequencing. Then, 143 BRCA1/2 mutation-negative patients were screened for LGRs. In this study, the prevalence of BRCA1/2 mutations was high (36.9 %). The prevalence of BRCA1 mutations was similar to that of BRCA2 mutations: 49.4 versus 50.6 %, respectively. TNBC was diagnosed in 35.2 % of BRCA1/2 mutation carriers and 57.1 % of BRCA1 mutation carriers. Conversely, two-thirds of TNBC patients carried BRCA1/2 mutation(s), and about half were BRCA1 mutation carriers. When stratified by the mutated gene, TNBC prevalence in BRCA1 mutation carriers was significantly lower when there was a family history of ovarian cancer. Our multinomial logistic regression model demonstrated that no single factor was sufficient, and at least two factors, such as a patient with family history of both breast cancer and ovarian cancer or a patient diagnosed at a relatively young age (<40 years) with a TNBC phenotype, are necessary to indicate BRCA1/2 genetic testing in this population. Our results suggest that TNBC is a strong predictor for the presence of a BRCA1 mutation in this population, but additional risk factors should also be evaluated to ascertain a 10 % or higher prior probability of BRCA1/2 mutation testing.

AB - Triple-negative breast cancer (TNBC) accounts for 12-24 % of all breast cancers. Here, we studied 221 familial breast and/or ovarian cancer patients from 37 hospitals using a comprehensive approach to identify large genomic rearrangements (LGRs) as well as sequence variants, and investigated the association between BRCA1/2 mutational status and TNBC. We performed direct sequencing or mutation scanning followed by direct sequencing. Then, 143 BRCA1/2 mutation-negative patients were screened for LGRs. In this study, the prevalence of BRCA1/2 mutations was high (36.9 %). The prevalence of BRCA1 mutations was similar to that of BRCA2 mutations: 49.4 versus 50.6 %, respectively. TNBC was diagnosed in 35.2 % of BRCA1/2 mutation carriers and 57.1 % of BRCA1 mutation carriers. Conversely, two-thirds of TNBC patients carried BRCA1/2 mutation(s), and about half were BRCA1 mutation carriers. When stratified by the mutated gene, TNBC prevalence in BRCA1 mutation carriers was significantly lower when there was a family history of ovarian cancer. Our multinomial logistic regression model demonstrated that no single factor was sufficient, and at least two factors, such as a patient with family history of both breast cancer and ovarian cancer or a patient diagnosed at a relatively young age (<40 years) with a TNBC phenotype, are necessary to indicate BRCA1/2 genetic testing in this population. Our results suggest that TNBC is a strong predictor for the presence of a BRCA1 mutation in this population, but additional risk factors should also be evaluated to ascertain a 10 % or higher prior probability of BRCA1/2 mutation testing.

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