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

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• 作者：Moon-Woo Seong (1)
  Kyu Hyung Kim (2)
  Il Yong Chung (3)
  Eunyoung Kang (2)
  Jong Won Lee (4)
  Sue K. Park (5) (6) (8)
  Min Hyuk Lee (9)
  Jeong Eon Lee (10)
  Dong-Young Noh (7)
  Byung Ho Son (4)
  Hai-Lin Park (11)
  Sung Im Cho (1)
  Sung Sup Park (1)
  Sung-Won Kim (12)
  
• 关键词：Breast cancer ; Hereditary cancer ; BRCA1 ; BRCA2 ; Triple ; negative breast cancer ; TNBC
• 刊名：Breast Cancer Research and Treatment
• 出版年：2014
• 出版时间：July 2014
• 年：2014
• 卷：146
• 期：1
• 页码：63-69
• 全文大小：
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• 作者单位：Moon-Woo Seong (1)
  Kyu Hyung Kim (2)
  Il Yong Chung (3)
  Eunyoung Kang (2)
  Jong Won Lee (4)
  Sue K. Park (5) (6) (8)
  Min Hyuk Lee (9)
  Jeong Eon Lee (10)
  Dong-Young Noh (7)
  Byung Ho Son (4)
  Hai-Lin Park (11)
  Sung Im Cho (1)
  Sung Sup Park (1)
  Sung-Won Kim (12)
  
  1. Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea
  2. Department of Surgery, Seoul National University Bundang Hospital, Sungnam, Korea
  3. Department of Surgery, National Medical Center, Seoul, Korea
  4. Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
  5. Department of Preventive Medicine, Seoul National University College of Medicine, Seoul National University, Seoul, Korea
  6. Department of Biomedical Science, Seoul National University College of Medicine, Seoul National University, Seoul, Korea
  8. Cancer Research Institute, Seoul National University, Seoul, Korea
  9. Department of Surgery, Soonchunhyang University Hospital, Seoul, Korea
  10. Department of Surgery, Samsung Medical Center, Sungkyunkwan University, Seoul, Korea
  7. Department of Surgery, Seoul National University College of Medicine, Seoul National University, Seoul, Korea
  11. Kangnam CHA University Hospital, Seoul, Korea
  12. Department of Surgery, Breast and Endocrine Service, Seoul National University Bundang Hospital, 300 Gumidong, Bundang-gu, Gyeonggi-do, Seongnam-si, 463-707, Korea
  
• ISSN：1573-7217

文摘

Triple-negative breast cancer (TNBC) accounts for 12-4?% 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.