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Effect of BRCA1/2 mutation on short-term and long-term breast cancer survival: a systematic review and meta-analysis

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Abstract

Reports of BRCA genetic mutations and risk of death or recurrence are inconsistent. This study aimed to compare overall and disease-free breast cancer survival rates between BRCA1/2 mutation carriers and non-carriers for short-term and long-term outcomes separately. We searched the PUBMED and EMBASE databases and retrieved 452 articles using keywords that included breast cancer, BRCA mutation, and survival. Seventeen articles were selected for systematic review and among them 11 were included in our meta-analysis. We used the random-effects model to calculate the summary hazard ratio and corresponding 95% confidence interval. BRCA1 mutation carriers had significantly lower short-term and long-term overall survival rates (OSR) relative to non-carriers (HR = 1.92 [95% CI = 1.45–2.53]; 1.33 [1.12–1.58], respectively), while both short-term and long-term OSR of BRCA2 carriers did not differ from non-carriers (HR = 1.30 [95% CI = 0.95–1.76]; 1.12 [95% CI = 0.86–1.45], respectively). For short-term progression-free survival rate (PFSR), BRCA1 mutation carriers had a significantly lower rate than non-carriers (HR = 1.54 [95% CI = 1.12–2.12]), while BRCA2 mutation carriers had a similar PFSR (HR = 1.23 [95% CI = 0.96–1.58]). For long-term PFSRs, we found no significant results. Our results suggest that BRCA1 mutation decreases short-term and long-term OSRs and short-term PFSR, however, BRCA2 mutation does not affect either short-term or long-term survival rate, which is attributed to the different carcinogenic pathways for BRCA1 and BRCA2.

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Acknowledgments

This study was supported by a grant from the National R&D Program for Cancer Control, Ministry of Health & Welfare, Republic of Korea [0720450] and by BRL (Basic Research Laboratory) program through the National Research Foundation of Korea funded by the Ministry of Education, Science and Technology (2009-0087452); the members of KOHBRA research group were as follows: Byung Ho Son, Byung-In Moon, Cha Kyong Yom, Chang Hyun Lee, Dae sung Yoon, Dong-Young Noh, Doo Ho Choi, Eundeok Chang, Hae Kyung Lee, Hyde Lee, Hyun-Ah Kim, Hyun Jo Youn, Il-kyun Lee, Jee-yeon Lee, Jeong Eon Lee, Jin Woo Ryu, Joon Jeong, Jung-Hyun Yang, Ki-Tae Hwang, Ku Sang Kim, Min Hee Hur, Min Hyuk Lee, Myung-chul Chang, Lee Su Kim, Sei Hyun Ahn, Sei Joong Kim, Seok-Jin Nam, Seung Sang Ko, SongYee Han, Sue K. Park, Sung Hoo Jung, Sung-Won Kim, Sung Yong Kim, Wonshik Han, Woo-Chul Noh, Yong Lai Park, Yongsik Jung, Young Jin Suh, Young Tae Bae and Young Up Cho.

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Authors and Affiliations

  1. Cancer Early Detection Branch, National Cancer Control Institute, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-si, Gyeonggi-do, 410-769, Korea

    Eun-Ha Lee

  2. Department of Preventive Medicine, Seoul National University College of Medicine, 103 Daehakro, Jongro-gu, Seoul, 110-799, Korea

    Sue K. Park, Boyoung Park, Keun-Young Yoo & Daehee Kang

  3. Department of Surgery, Breast and Endocrine Service, Seoul National University Bundang Hospital, Gyeonggi-do, Korea

    Sung-Won Kim

  4. Department of Surgery, College of Medicine, Soonchunhyang University, Seoul, Korea

    Min Hyuk Lee

  5. Department of Surgery, College of Medicine, University of Ulsan and Asan Medical Center, Seoul, Korea

    Sei Hyun Ahn & Byung Ho Son

  6. Cancer Research Institute, Seoul National University, Seoul, Korea

    Sue K. Park & Daehee Kang

  7. Institute of Health Management and Policy, Seoul National University, Seoul, Korea

    Sue K. Park

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  1. Eun-Ha Lee
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  7. Byung Ho Son
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  9. Daehee Kang
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KOHBRA Research Group

Korean Breast Cancer Society

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Correspondence to Sue K. Park.

Appendix

Appendix

See Table 5, 6, 7

Table 5 Characteristics of the subjects in each study
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Table 6 Summary of the articles excluded in the meta-analysis
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Table 7 Contralateral breast cancer risk of BRCA mutation carriers relative to non-carriers
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Lee, EH., Park, S.K., Park, B. et al. Effect of BRCA1/2 mutation on short-term and long-term breast cancer survival: a systematic review and meta-analysis. Breast Cancer Res Treat 122, 11–25 (2010). https://doi.org/10.1007/s10549-010-0859-2

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