ArticleJournal of breast cancer2013
Prevalence of BRCA1 and BRCA2 Germline Mutations in Breast Cancer Women of Multiple Ethnic Region in Northwest China.
Article in Journal of breast cancer, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 22 citations in OpenAlex.
- Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.Oncotarget · 2016Pooled it
- Androgen receptor, EGFR, and BRCA1 as biomarkers in triple-negative breast cancer: a meta-analysis.BioMed research international · 2015Pooled it
- Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.Oncotarget · 2023Article
- Progress and prospects in research and clinical practice of hormone receptor-positive, HER-2-negative breast cancer with BRCA1/2 mutations.Discover oncology · 2023Review
- Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.PloS one · 2023Article
- A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel.Familial cancer · 2022Article
- Prevalence of mammary Paget's disease in urban China in 2016.Scientific reports · 2021Article
- Integrative analysis of gene expression profiles reveals distinct molecular characteristics in oral tongue squamous cell carcinoma.Oncology letters · 2019Article
- High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients.BMC cancer · 2016Article
- Article
- PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China.European journal of medical research · 2015Article
- Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes.Sultan Qaboos University medical journal · 2015Article
- The prevalence of BRCA1/2 mutations of triple-negative breast cancer patients in Xinjiang multiple ethnic region of China.European journal of medical research · 2014Article
- Breast Cancer Risk - From Genetics to Molecular Understanding of Pathogenesis.Geburtshilfe und Frauenheilkunde · 2013Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe aim of this study is to further understand the status of BRCA1 and BRCA2 mutation among Chinese high-risk breast cancer patients in multiple-ethnic regions of China.
methodsA total of 79 blood samples of high-risk breast cancer patients from Xinjiang Uyghur autonomous region were analyzed by PCR-DHPLC sequencing analysis.
resultsAnalysis with full length of the two genes identified a total of 6 deleterious mutations (2073delA, 2394C-T [Q759X] and IVS16+1G>A in BRCA1; 1627A-T [K467X], 6873delCTCC and 9481delA in BRCA2) in this cohort. The prevalence of BRCA1/2 germline mutation was about 7.6% (6/79) in the Xinjiang multiple ethnic region of China. Among them, 3 novel deleterious mutations, 2073delA in BRCA1 (Han ethnic Chinese) and BRCA2 variants 6873delCTCC and 9481delA (both are Kazakh ethnic Chinese), were identified and they had never been reported in breast cancer information core (BIC) database before. 2394C-T (Q759X) and IVS16+1G>A, in BRCA1 and BRCA2 variants 1627A-T were previously reported in other populations but not Chinese. Among 6 of the BRCA-related tumors, three BRCA1- and one BRCA2-associated tumors were in triple negative (estrogen receptor, progesterone receptor, and HER2 negative expressed) status and exhibited a high tumor grade. So far none of these 6 deleterious mutations were reported in ethnic Han Chinese.
conclusionBRCA germline mutation in Chinese multiple ethnicity region may exhibit different genotypes compared to ethnic Han Chinese in other regions. These differences may arise from interaction of genetic background and environmental factors.
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