Real-World Epidemiology, Clinical Characteristics and Outcomes of Women with Germline BRCA Mutation and Early Breast Cancer in China

Bray F, Laversanne M, Sung H, et al. Global cancer statistics 2022: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2024;74(3):229–63.

PubMed  Google Scholar 

Lei S, Zheng R, Zhang S, et al. Global patterns of breast cancer incidence and mortality: a population-based cancer registry data analysis from 2000 to 2020. Cancer Commun (Lond). 2021;41(11):1183–94.

Article  PubMed  Google Scholar 

Chen W, Zheng R, Baade PD, et al. Cancer statistics in China, 2015. CA Cancer J Clin. 2016;66(2):115–32.

PubMed  Google Scholar 

Murali B, Durbin L, Vijaykumar S, et al. Treatment of HR+/HER2- breast cancer in urban mainland China: results from the CancerMPact survey 2019. Breast Cancer Res Treat. 2022;195(3):441–51.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA. 2017;317(23):2402–16.

Article  CAS  PubMed  Google Scholar 

Wu Z, Zhang Q, Jin Y, et al. Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area. BMC Cancer. 2024;24(1):411.

Article  PubMed  PubMed Central  Google Scholar 

Lin PH, Chen SC, Tseng LM, et al. Impact of BRCA mutation on the survival and risk of contralateral breast cancer in Asian breast cancer patients. Breast Cancer Res Treat. 2022;192(3):629–37.

Article  CAS  PubMed  Google Scholar 

Armstrong N, Ryder S, Forbes C, Ross J, Quek RG. A systematic review of the international prevalence of BRCA mutation in breast cancer. Clin Epidemiol. 2019;11:543–61.

Article  PubMed  PubMed Central  Google Scholar 

Couch FJ, Hart SN, Sharma P, et al. Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. J Clin Oncol. 2015;33(4):304–11.

Article  CAS  PubMed  Google Scholar 

Deng M, Chen HH, Zhu X, et al. Prevalence and clinical outcomes of germline mutations in BRCA1/2 and PALB2 genes in 2769 unselected breast cancer patients in China. Int J Cancer. 2019;145(6):1517–28.

Article  CAS  PubMed  Google Scholar 

Lambertini M, Blondeaux E, Tomasello LM, et al. Clinical behavior of breast cancer in young BRCA carriers and prediagnostic awareness of germline BRCA status. J Clin Oncol. 2025;43(14):1706–19.

Pujol P, Yauy K, Coffy A, et al. Predominance of BRCA2 mutation and estrogen receptor positivity in unselected breast cancer with BRCA1 or BRCA2 mutation. Cancers (Basel). 2022;14(13):3266.

Article  CAS  PubMed  Google Scholar 

Wei H, Wang M, Ou J, et al. Multicenter cross-sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations. Oncol Lett. 2018;15(6):9420–8.

PubMed  PubMed Central  Google Scholar 

Liu Y, Wang H, Wang X, et al. Prevalence and reclassification of BRCA1 and BRCA2 variants in a large, unselected Chinese Han breast cancer cohort. J Hematol Oncol. 2021;14(1):18.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Robson M, Im SA, Senkus E, et al. Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. N Engl J Med. 2017;377(6):523–33.

Article  CAS  PubMed  Google Scholar 

Litton JK, Rugo HS, Ettl J, et al. Talazoparib in patients with advanced breast cancer and a germline BRCA mutation. N Engl J Med. 2018;379(8):753–63.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kaufman B, Shapira-Frommer R, Schmutzler RK, et al. Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation. J Clin Oncol. 2015;33(3):244–50.

Article  CAS  PubMed  Google Scholar 

Senkus E, Delaloge S, Domchek SM, et al. Olaparib efficacy in patients with germline BRCA-mutated, HER2-negative metastatic breast cancer: subgroup analyses from the phase III OlympiAD trial. Int J Cancer. 2023;153(4):803–14.

Article  CAS  PubMed  Google Scholar 

Robson M, Im SA, Senkus E, et al. Abstract PD4-03: OlympiAD extended follow-up for overall survival and safety: olaparib versus chemotherapy treatment of physician’s choice in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer. Cancer Res. 2020;80(4_suppl):PD4-03.

Article  Google Scholar 

Tutt ANJ, Garber JE, Kaufman B, et al. Adjuvant olaparib for patients with BRCA1- or BRCA2-mutated breast cancer. N Engl J Med. 2021;384(25):2394–405.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Balmaña J, Fasching PA, Couch FJ, et al. Clinical effectiveness and safety of olaparib in BRCA-mutated, HER2-negative metastatic breast cancer in a real-world setting: final analysis of LUCY. Breast Cancer Res Treat. 2024;204(2):237–48.

Article  PubMed  Google Scholar 

AstraZeneca. Lynparza approved by US FDA in germline BRCA-mutated metastatic breast cancer. 2018. https://www.astrazeneca.com/media-centre/press-releases/2018/lynparza-approved-by-us-fda-in-germline-brca-mutated-metastatic-breast-cancer-12012018.html#. Accessed Feb 2025.

US Food and Drug Administration. FDA approves talazoparib for gBRCAm HER2-negative locally advanced or metastatic breast cancer. 2018. https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-talazoparib-gbrcam-her2-negative-locally-advanced-or-metastatic-breast-cancer. Accessed Feb 2025.

AstraZeneca. Highlights of prescribing information. LYNPARZA® (olaparib) tablets, for oral use. 2023. https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/208558s028lbl.pdf. Accessed Feb 2025.

AstraZeneca. Summary of product characteristics (Lynparza). 2022. https://www.ema.europa.eu/en/documents/product-information/lynparza-epar-product-information_en.pdf. Accessed Feb 2025.

AstraZeneca. Olaparib approved in China for adjuvant treatment of gBRCA mutation HER2-negative early-stage high-risk breast cancer. 2025. https://www.astrazeneca.com.cn/zh/media/press-releases/2025/01-02-02.html#. Accessed Apr 2025.

Park KH, Loibl S, Sohn J, et al. Pan-Asian adapted ESMO Clinical Practice Guidelines for the diagnosis, treatment and follow-up of patients with early breast cancer. ESMO Open. 2024;9(5):102974.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bedrosian I, Somerfield MR, Achatz MI, et al. Germline testing in patients with breast cancer: ASCO-Society of Surgical Oncology guideline. J Clin Oncol. 2024;42(5):584–604.

Article  PubMed  Google Scholar 

Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN guidelines®) for Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate V.3.2025. © National Comprehensive Cancer Network, Inc. 2025. All rights reserved. Accessed March 27, 2025. To view the most recent and complete version of the guideline, go online to NCCN.org. NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.

Yang X, Wu J, Lu J, et al. Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing. PLoS One. 2015;10(4):e0125571.

Article  PubMed  PubMed Central  Google Scholar 

Lang GT, Shi JX, Hu X, et al. The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: screening of 2,991 patients and 1,043 controls by next-generation sequencing. Int J Cancer. 2017;141(1):129–42.

Article  CAS  PubMed  Google Scholar 

Hammond ME, Hayes DF, Dowsett M, et al. American Society of Clinical Oncology/College of American Pathologists guideline recommendations for immunohistochemical testing of estrogen and progesterone receptors in breast cancer. J Clin Oncol. 2010;28(16):2784–95.

Article  PubMed  PubMed Central  Google Scholar 

Lombardi A, Lazzeroni R, Bersigotti L, Vitale V, Amanti C. The proper Ki-67 cut-off in hormone responsive breast cancer: a monoinstitutional analysis with long-term follow-up. Breast Cancer (Dove Med Press). 2021;13:213–7.

CAS  PubMed  Google Scholar 

Gao X, Nan X, Liu Y, et al. Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients. Hum Mutat. 2020;41(3):696–708.

Article  CAS  PubMed  Google Scholar 

Arun B, Couch FJ, Abraham J, Tung N, Fasching PA. BRCA-mutated breast cancer: the unmet need, challenges and therapeutic benefits of genetic testing. Br J Cancer. 2024;131(9):1400–14.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Loibl S, André F, Bachelot T, et al. Early breast cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up. Ann Oncol. 2024;35(2):159–82.

Article  CAS  PubMed 

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