ArticleJournal of cancer research and clinical oncology2017
Analysis of BRCA1/2 mutation spectrum and prevalence in unselected Chinese breast cancer patients by next-generation sequencing.
Article in Journal of cancer research and clinical oncology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 41 citations in OpenAlex.
- Talazoparib Versus Chemotherapy in Patients with HER2-negative Advanced Breast Cancer and a Germline BRCA1/2 Mutation Enrolled in Asian Countries: Exploratory Subgroup Analysis of the Phase III EMBRACA Trial.Cancer research and treatment · 2021Trial
- Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients.PloS one · 2018Trial
- Assessing the Clinical Relevance ofCurrent oncology (Toronto, Ont.) · 2026Article
- Prevalence of germlineThe Lancet regional health. Western Pacific · 2025Article
- Somatic and germline aberrations in homologous recombination repair genes among Chinese high-risk breast cancer patients by multi-gene next-generation sequencing.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Article
- Abrogation of KLF5 sensitizesActa biochimica et biophysica Sinica · 2024Article
- Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus.Clinical and experimental medicine · 2023Article
- Risk-Reducing Breast and Gynecological Surgery for BRCA Mutation Carriers: A Narrative Review.Journal of clinical medicine · 2023Review
- Combining Breast Cancer Risk Prediction Models.Cancers · 2023Article
- Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.PloS one · 2023Article
- A literature review of the promising future ofAnnals of translational medicine · 2022Review
- BRCA1, BRCA2, TP53, PIK3CA, PTEN and AKT1 genes mutations in Burkina Faso breast cancer patients: prevalence, spectrum and novel variant.Molecular genetics and genomics : MGG · 2022Article
- Review
- Overview on population screening for carriers with germline BRCA mutation in China.Frontiers in oncology · 2022Review
- Germline and tumor BRCA1/2 pathogenic variants in Chinese triple-negative breast carcinomas.Journal of cancer research and clinical oncology · 2021Article
- Contralateral risk-reducing local therapy in breast cancer patients with BRCA1/2 mutations: systemic review and meta-analysis.Cancer cell international · 2021Review
- Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients.Breast cancer research and treatment · 2021Article
- Prevalence of germline BRCA mutations in HER2-negative metastatic breast cancer: global results from the real-world, observational BREAKOUT study.Breast cancer research : BCR · 2020Observational
- Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients.Molecular genetics & genomic medicine · 2019Article
- Article
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeBRCA1 and BRCA2 (BRCA1/2) are two major high-penetrance breast cancer predisposition genes, mutations in which can lead to high risks and early onset of breast cancer. This study was performed to comprehensively investigate the spectrum and prevalence of BRCA1/2 mutations in unselected Chinese breast cancer patients and evaluate the associations of BRCA1/2 mutations with related clinicopathological characteristics of the tumors.
methodsBy integrating microfluidic PCR-based target enrichment and next-generation sequencing, paired tumor and normal tissues from 313 unselected breast cancer patients were analyzed for both germline and somatic mutations of BRCA1/2 genes in Chinese Han population.
resultsTotal 5 BRCA1 and 8 BRCA2 deleterious germline mutations were detected in 5 (1.60%) and 12 (3.83%) of the 313 patients, respectively. The entire frequency of deleterious germline mutations of BRCA1/2 was 5.43%. Among them, c.1069A > T and c.3418_3419insTGACTACT in BRCA1, c.8474_8487delCATACCCTATACAG and c.6547delG in BRCA2 were novel. In addition, 32 germline variants of unknown significance in 31 (9.90%) of the 313 patients were identified. We also detected 13 somatic mutations in ten patients (3.19%), including 4 (1.28%) deleterious mutations (c.1575delT, c.2677C > T, c.7024C > T, and c.7672G > T in BRCA2) and 5 novel mutations (c.4728A > G and c.4820T > C in BRCA1; c.2527G > A, c.4069C > G and c.7672G > T in BRCA2). Notably, BRCA1 mutation carriers were significantly younger, and more likely to be ER negative and basal-like breast cancers.
conclusionsOur study provided a reliable and effective platform for BRCA1/2 genetic testing, and suggested that there was a relatively high prevalence and special spectrum of BRCA1/2 mutations in unselected Chinese breast cancer patients.
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