ArticlePloS one2012
Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 3 of them syntheses that pooled it.
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Who cites it
63 citing papers in PubMed, 3 syntheses or guidelines pooled it, 105 citations in OpenAlex.
- Global prevalence and ethnic variation of pathogenic BRCA1/2 variants in breast cancer: a systematic review and meta-analysis.Journal of translational medicine · 2026Pooled it
- Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.BMC cancer · 2022Pooled it
- Pooled it
- A comparative study of molecular characteristics of pathogenic and uncertain significance variants of BRCA1/2 in Chinese breast cancer patients.BMC research notes · 2026Article
- Genomic Characterization of Preclinical Prostate Cancer Cell Line Models.International journal of molecular sciences · 2024Article
- BRCA1 and BRCA2 germline mutations in Chinese Hakka breast cancer patients.BMC medical genomics · 2024Article
- Feasibility and Clinical Utility of Reporting Hereditary Cancer Predisposition Pathogenic Variants Identified in Research Germline Sequencing: A Prospective Interventional Study.JCO precision oncology · 2024Article
- Epithelial ovarian cancer survival by race and ethnicity in an equal-access healthcare population.British journal of cancer · 2024Article
- The Role of Genetic Mutations in Mitochondrial-Driven Cancer Growth in Selected Tumors: Breast and Gynecological Malignancies.Life (Basel, Switzerland) · 2023Review
- Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.International journal of cancer · 2023Article
- A global perspective on the ethnic-specificJournal of the National Cancer Center · 2023Review
- Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer.Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia · 2023Article
- Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.BMC cancer · 2022Article
- Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.Breast cancer research and treatment · 2022Article
- Germline mutations in Chinese ovarian cancer with or without breast cancer.Molecular genetics & genomic medicine · 2022Article
- Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?International journal of oncology · 2022Article
- Genetic Testing and Its Clinical Application in Prostate Cancer Management: Consensus Statements from the Hong Kong Urological Association and Hong Kong Society of Uro-Oncology.Frontiers in oncology · 2022Article
- Case Report: Fluzoparib for multiple lines of chemotherapy refractory in metastatic cutaneous squamous cell carcinoma with BRCA2 pathogenic mutation.Frontiers in pharmacology · 2022Article
- Assessing the Variations in Breast/Ovarian Cancer Risk for ChineseJournal of oncology · 2022Article
- The Features ofInternational journal of general medicine · 2022Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 3 countries.
Funding
Abstract
backgroundEthnic variations in breast cancer epidemiology and genetics have necessitated investigation of the spectra of BRCA1 and BRCA2 mutations in different populations. Knowledge of BRCA mutations in Chinese populations is still largely unknown. We conducted a multi-center study to characterize the spectra of BRCA mutations in Chinese breast and ovarian cancer patients from Southern China. METHODOLOGY/PRINCIPAL
findingsA total of 651 clinically high-risk breast and/or ovarian cancer patients were recruited from the Hong Kong Hereditary Breast Cancer Family Registry from 2007 to 2011. Comprehensive BRCA1 and BRCA2 mutation screening was performed using bi-directional sequencing of all coding exons of BRCA1 and BRCA2. Sequencing results were confirmed by in-house developed full high resolution DNA melting (HRM) analysis. Among the 451 probands analyzed, 69 (15.3%) deleterious BRCA mutations were identified, comprising 29 in BRCA1 and 40 in BRCA2. The four recurrent BRCA1 mutations (c.470_471delCT, c.3342_3345delAGAA, c.5406+1_5406+3delGTA and c.981_982delAT) accounted for 34.5% (10/29) of all BRCA1 mutations in this cohort. The four recurrent BRCA2 mutations (c.2808_2811delACAA, c.3109C>T, c.7436_7805del370 and c.9097_9098insA) accounted for 40% (16/40) of all BRCA2 mutations. Haplotype analysis was performed to confirm 1 BRCA1 and 3 BRCA2 mutations are putative founder mutations. Rapid HRM mutation screening for a panel of the founder mutations were developed and validated.
conclusionIn this study, our findings suggest that BRCA mutations account for a substantial proportion of hereditary breast/ovarian cancer in Southern Chinese population. Knowing the spectrum and frequency of the founder mutations in this population will assist in the development of a cost-effective rapid screening assay, which in turn facilitates genetic counseling and testing for the purpose of cancer risk assessment.
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