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

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15 Scopus citations


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
Issue number1
StatePublished - Jul 2014

Bibliographical note

Funding Information:
Acknowledgments This study was supported by the Grant No. 02-2009-032 from the SNUH Research Fund and by a grant from the National R&D Program for Cancer Control, Ministry for Health, Welfare, and Family Affairs, Republic of Korea (No. 1020350).


  • BRCA1
  • BRCA2
  • Breast cancer
  • Hereditary cancer
  • TNBC
  • Triple-negative breast cancer


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