SynthesisMolecular biology reports2012
Common BRCA1 and BRCA2 mutations in breast cancer families: a meta-analysis from systematic review.
Synthesis in Molecular biology reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 68 citations in OpenAlex.
- Pooled it
- BRCA mutations and survival in breast cancer: an updated systematic review and meta-analysis.Oncotarget · 2016Pooled it
- Target and Agent Prioritization for the Children's Oncology Group-National Cancer Institute Pediatric MATCH Trial.Journal of the National Cancer Institute · 2017Trial
- Emerging role of plant-based compounds as ferroptosis modulators in breast cancer.Naunyn-Schmiedeberg's archives of pharmacology · 2026Review
- Impact of Distinct Molecular and Immunological Features of Breast Cancer on the Effectiveness of Therapies in Ghana.Breast cancer : basic and clinical research · 2026Review
- Regional Differences in the Frequency of BRCA1 and BRCA2 Variants in Northeastern Japan: A Cohort Study.Cancer medicine · 2025Article
- Proteomic Markers for Mechanobiological Properties of Metastatic Cancer Cells.International journal of molecular sciences · 2023Review
- Hybrid-seq deciphers the complex transcriptional profile of the humanRNA biology · 2023Article
- Cancer and Radiosensitivity Syndromes: Is Impaired Nuclear ATM Kinase Activity the Primum Movens?Cancers · 2022Review
- Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients.International journal of environmental research and public health · 2022Article
- Bilateral Salpingo-oophorectomy and Breast Cancer Risk forCancer prevention research (Philadelphia, Pa.) · 2021Review
- Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population.Frontiers in oncology · 2021Review
- Prevalence and Spectrum ofGenes · 2020Article
- Recurrent Germline BRCA2 Gene Mutation in Lithuanian Family.Medicina (Kaunas, Lithuania) · 2020Article
- Effects ofJournal of oncology · 2020Article
- Breast Cancer in Very Young Patients in a Spanish Cohort: Age as an Independent Bad Prognostic Indicator.Breast cancer : basic and clinical research · 2019Article
- Power of pedigree likelihood analysis in extended pedigrees to classify rare variants of uncertain significance in cancer risk genes.Familial cancer · 2017Article
- Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.BMC medical genetics · 2016Article
- Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.BMC cancer · 2015Article
- Investigation on MDR1 gene polymorphisms and its relationship with breast cancer risk factors in Chinese women.Medical oncology (Northwood, London, England) · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A number of molecular epidemiological studies have been conducted the screening for BRCA1 and BRCA2 mutations in breast cancer patients with a positive family history of breast and/or ovarian cancer and reported many common mutations in BRCA1 and BRCA2 associated in breast cancer in different population and different ethnicity. However, it's still lack of a systematic analysis on these mutations. To comprehensively evaluate the frequency and distribution of common BRCA1 and BRCA2 mutations which associated with breast cancer risk, we address this issue through system review and meta-analysis on 29 relevant published studies by conducting a literature search on PubMed and CNKI. 20 common founder germline mutations were identified from all 29 studies and 4 of BRCA1 (5382insC, 185delAG, 3819del5 and 4153delA) and 2 of BRCA2 (4075delGT, 5802del4) mutations were repeatedly reported twice or more in different articles, respectively. For the BRCA1, after conducting meta-analysis, we found that the overall frequency of 5382insC was 0.09 (95% CI 0.06-0.12), the frequency of 185delAG was 0.07 (95% CI 0.01-0.13), the frequency of 3819del5 was 0.02 (95% CI 0.01-0.04) and the frequency of 4153delA was 0.06 (95% CI 0.03-0.09). For the BRCA2, the overall frequency of 4075delGT was 0.02 (95% CI 0.00-0.03) and the frequency of 5802del4 was 0.07 (95% CI 0.04-0.11). This article provides a set of common mutations for BRCA1 and BRCA2 mutation carriers and the results may help to explore frequencies of BRCA1 and BRCA2 mutations in a given population and will be of significance both for diagnostic testing and for epidemiological studies.
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