ArticlePloS one2016
Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Association between BRCA mutational status and survival in patients with breast cancer: a systematic review and meta-analysis.Breast cancer research and treatment · 2021Pooled it
- Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes.Future science OA · 2025Article
- Omitting radiotherapy in LUMINA-like breast cancer after breast conserving surgery: 10-year results of a population-based cohort study.The oncologist · 2025Article
- Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.PloS one · 2023Article
- Next-generation sequencing based detection ofFrontiers in oncology · 2022Article
- Germline and tumor BRCA1/2 pathogenic variants in Chinese triple-negative breast carcinomas.Journal of cancer research and clinical oncology · 2021Article
- Genomic Profiling Comparison of GermlineFrontiers in oncology · 2020Article
- Non-Journal of global oncology · 2019Article
- Inherited mutations inJournal of medical genetics · 2018Article
- The role of BRCA status on prognosis in patients with triple-negative breast cancer.Oncotarget · 2017Article
- Analysis of BRCA1/2 mutation spectrum and prevalence in unselected Chinese breast cancer patients by next-generation sequencing.Journal of cancer research and clinical oncology · 2017Article
- Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.The oncologist · 2017Article
- Surgery of the primary tumor improves survival in women with stage IV breast cancer in Southwest China: A retrospective analysis.Medicine · 2017Observational
- Prevalence ofCancer control : journal of the Moffitt Cancer CenterArticle
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Authors and funding
14 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundThe prevalence of BRCA1/2 variants in Chinese breast cancer patients varies among studies. Germline or somatic BRCA1/2 mutations are associated with sensitivity to poly(ADP-ribose) polymerase-1 inhibitors and DNA-damaging agents. We aimed to investigate the distribution of both somatic and germline BRCA1/2 variants in unselected Chinese breast cancer patients, and explore their roles in tumor phenotype and disease prognosis.
methods507 breast cancer patients, unselected for family history of breast cancer or age at diagnosis, were prospectively enrolled from West China Hospital between Feb. 2008 and Feb. 2014. BRCA1/2 variants in the exons/flanking regions were detected in fresh-frozen tumors using next-generation sequencing and confirmed by independent methods. Germline/somatic status was validated by Sanger sequencing in paired blood/normal tissue.
resultsBRCA1/2 pathogenic or likely pathogenic (P/LP) variants were detected in 50 patients (9.9%), including 40 germline carriers (18 in BRCA1, 22 in BRCA2), 9 patients with somatic variants (3 in BRCA1, 6 in BRCA2), and 1 patient with concurrent germline/somatic variants in BRCA2. The triple-negative (21.4%) and Luminal B (9.7%) subtypes had higher rates of BRCA1/2 variants. In patients with disease stage 0~II, presence of a germline or somatic BRCA1 P/LP variant increased the risk of relapse as compared to non-carriers [univariate hazard ratio (HR): 3.70, P = 0.04]. Germline BRCA1 P/LP variants, which were associated with aggressive tumor phenotypes, predicted worse disease-free survival in the subgroup of stage 0~II (HR: 4.52, P = 0.02) and N0 (HR: 5.4, P = 0.04) compared to non-carriers.
conclusionA high frequency of germline and somatic BRCA1/2 P/LP variants was detected in unselected Chinese breast cancer patients. Luminal B subtype should be considered as a high-risk population of BRCA1/2 mutation, in addition to triple-negative breast cancer. BRCA1 status was associated with aggressive tumor phenotype and worse disease progression in early stage breast cancer patients.
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