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 language | English |
|---|---|
| Pages (from-to) | 63-69 |
| Number of pages | 7 |
| Journal | Breast Cancer Research and Treatment |
| Volume | 146 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 2014 Jul |
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All Science Journal Classification (ASJC) codes
- Oncology
- Cancer Research
Cite this
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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 journal › Article
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.
UR - http://www.scopus.com/inward/record.url?scp=84903697051&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84903697051&partnerID=8YFLogxK
U2 - 10.1007/s10549-014-3006-7
DO - 10.1007/s10549-014-3006-7
M3 - Article
C2 - 24894343
AN - SCOPUS:84903697051
VL - 146
SP - 63
EP - 69
JO - Breast Cancer Research and Treatment
JF - Breast Cancer Research and Treatment
SN - 0167-6806
IS - 1
ER -