ArticleBreast cancer research and treatment2022
Prevalence of BRCA1 and BRCA2 pathogenic variants in 8627 unselected patients with breast cancer: stratification of age at diagnosis, family history and molecular subtype.
Article in Breast cancer research and treatment, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 14 citations in OpenAlex.
- Efficacy and safety of PARP inhibitors in metastatic breast cancer patients with homologous recombination repair pathway gene mutations: a retrospective multicenter real-world study.Therapeutic advances in medical oncology · 2026Article
- Clinical predictors ofFrontiers in oncology · 2026Article
- Epidemiology, early detection, and management of breast cancer in China: A comprehensive review.Chinese journal of cancer research = Chung-kuo yen cheng yen chiu · 2025Article
- Clinicopathological characteristics of BRCA1-associated breast carcinoma patients in Kazakhstan.Discover oncology · 2025Article
- Reclassification ofEuropean journal of breast health · 2025Article
- Potential candidates for adjuvant olaparib treatment in operable breast cancer patients with germline BRCA1/2 pathogenic variants after neoadjuvant chemotherapy.Breast cancer research and treatment · 2025Article
- Immunotherapy and its racial specificity for breast cancer treatment in Asia: a narrative review.The Lancet regional health. Western Pacific · 2025Review
- HR-positive/HER2-negative breast cancer arising in patients with or withoutTherapeutic advances in medical oncology · 2024Article
- Estrogen receptor-positive breast cancer and adverse outcome in BRCA2 mutation carriers and young non-carrier patients.NPJ breast cancer · 2023Article
- Contribution of constitutional BRCA1 promoter methylation to early-onset and familial breast cancer patients from Pakistan.Breast cancer research and treatment · 2023Article
- Analysis of Breast Cancer Family History, Estrogen Receptor Status, and Breast Cancer Outcomes in Sweden.JAMA network open · 2023Article
- A global perspective on the ethnic-specificJournal of the National Cancer Center · 2023Review
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Authors and funding
9 authors at 1 institution in 2 countries.
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Abstract
purposeComprehensively analyzing the prevalence of BRCA1/2 germline pathogenic variants (PVs) in a large cohort of unselected Chinese patients with breast cancer has great clinical importance.
methodsGermline pathogenic variants in full-length BRCA1/2 genes were determined through next-generation sequencing and/or Sanger sequencing assays in 8627 unselected Chinese patients with breast cancer who were treated at the Breast Center of Peking University Cancer Hospital. The prevalence of BRCA1/2 PVs was further stratified by age at diagnosis, family history of cancer and molecular subtype.
resultsWe found that the overall prevalence of BRCA1/2 PVs was 6.0% in the entire cohort, 2.4% in BRCA1 and 3.7% in BRCA2. The prevalence of BRCA1/2 PVs in patients with early-onset breast cancer (age at diagnosis ≤ 40 years) was significantly higher than that in patients over the age of 40 (9.7% vs. 5.1%). The prevalence rates of BRCA1/2 PVs in patients with a family history of breast, ovarian, pancreatic, and prostate cancer were 19.5%, 39.0%, 11.1%, and 12.8%, respectively. Moreover, the number of relatives affected by breast cancer was associated with a higher prevalence of BRCA1/2 PVs. Molecular subtypes were associated with the prevalence of BRCA1/2 PVs. Patients with the triple-negative phenotype had the highest prevalence of BRCA1/2 PVs (13.3%) among the three molecular groups, followed by the HR + and HER2- group (5.9%), and the lowest was in the HER2 + group (2.5%).
conclusionOur study provides the most comprehensive information to date on the prevalence of BRCA1/2 PVs in unselected Chinese patients with breast cancer.
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