ArticleEuropean journal of breast health2018
Frequency of Rearrangements Versus Small Indels Mutations in
Article in European journal of breast health, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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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.
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Who cites it
6 citing papers in PubMed, 13 citations in OpenAlex.
- Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.Human genomics · 2026Article
- BRCA Mutations and MicroRNA Expression Patterns in the Peripheral Blood of Breast Cancer Patients.ACS omega · 2024Article
- Frequency of germline pathogenic variants in breast cancer predisposition genes among young Turkish breast cancer patients.Breast cancer research and treatment · 2023Article
- Mutations ofGenes · 2023Article
- Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer.Journal of human genetics · 2023Article
- Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer.Oncology letters · 2022Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe current rearrangement ratio of MATERIALS AND
methodsThe study included 1809 patients at high risk of breast cancer or ovarian cancer. All patients were investigated for both small indels and rearrangements of BRCA genes using DNA sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis.
resultsThe overall frequency of rearrangements was 2% (25/1262). The frequency of rearrangements was 1.7% (18/1086) and 4% (9/206) in patients with breast cancer and ovarian cancer, respectively. The frequency of rearrangements was 3.7% (8/215) in patients with triple-negative breast cancer. The rearrangement rate was 7.7% (2/26) in patients with both breast and ovarian cancer.
conclusionsRearrangements were found with high rates and were strongly associated with bilateral and triple-negative status of patients with breast cancer, which are signs of high risk for breast and ovarian cancer. Analysis of rearrangements should definitely be included in routine clinical practice in Turkey for high-risk families and also for improved cancer risk prediction for families.
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