ArticleBMC cancer2014
A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients.
Article in BMC cancer, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
19 citing papers in PubMed, 27 citations in OpenAlex.
- Copy number variants in BRCA1 and BRCA2 genes in Polish patients with breast and ovarian cancer.Journal of cancer research and clinical oncology · 2026Article
- Clinical Performance of International and Korean Genetic Testing Criteria for Hereditary Breast Cancer: A Large-Scale Cohort Analysis of 2,188 Individuals.Journal of breast cancer · 2026Article
- The role of Alu elements in causing BRCA1 structural variation and breast cancer susceptibility.Genes & genomics · 2026Review
- Identification and Characterization of an Exonic Duplication inInternational journal of molecular sciences · 2022Article
- Multiomics analysis of serial PARP inhibitor treated metastatic TNBC inform on rational combination therapies.NPJ precision oncology · 2021Article
- Clinical use and mechanisms of resistance for PARP inhibitors in homologous recombination-deficient cancers.Translational oncology · 2021Review
- Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea.Diagnostics (Basel, Switzerland) · 2021Article
- Germline Structural Variations in Cancer Predisposition Genes.Frontiers in genetics · 2021Review
- Breast cancer in six families from Tolima and Huila: BRCA1 3450del4 mutationBiomedica : revista del Instituto Nacional de Salud · 2020Article
- Article
- Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients.Molecular diagnosis & therapy · 2019Article
- Article
- Rapid detection of copy number variations and point mutations inOncotarget · 2018Article
- Multicenter cross-sectional screening of theOncology letters · 2018Article
- Frequency of Rearrangements Versus Small Indels Mutations inEuropean journal of breast health · 2018Article
- DNA nanomapping using CRISPR-Cas9 as a programmable nanoparticle.Nature communications · 2017Article
- Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.Breast cancer research and treatment · 2017Article
- Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea.BMC medical genetics · 2017Article
- Rampant centrosome amplification underlies more aggressive disease course of triple negative breast cancers.Oncotarget · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 10 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLarge genomic rearrangements (LGRs) in the BRCA1/2 genes are frequently observed in breast cancer patients who are negative for BRCA1/2 small mutations. Here, we examined 221 familial breast cancer patients from 37 hospitals to estimate the contribution of LGRs, in a nationwide context, to the development of breast cancer.
methodsDirect sequencing or mutation scanning followed by direct sequencing was performed to screen small mutations. BRCA1/2 small mutation-negative patients were screened for the presence of LGRs using a multiple ligation-dependent probe amplification (MLPA) assay.
resultsUsing a combined strategy to detect the presence of small mutations and LGRs, we identified BRCA1/2 small mutations in 78 (35.3%) out of 221 familial breast cancer patients and BRCA1 LGRs in 3 (2.1%) out of 143 BRCA1/2 small mutation-negative patients: the deletion of exons 11-13, the deletion of exons 13-15, and whole gene deletion of exons 1-24. The novel deletion of exons 11-13 is thought to result from a non-homologous recombination event mediated by a microhomology sequence comprised of 3 or 4 base pairs: c.3416_4357 + 1863delins187 (NG_005905.2: g.33369_44944delins187).
conclusionsIn this study, we showed that LGRs were found in 3.7% (3/81) of the patients who had mutations in BRCA1 or BRCA2, and 7.5% (3/40) of patients with mutations in BRCA1. This suggests that the contribution of LGRs to familial breast cancer in this population might be comparable to that in other ethnic populations. Given these findings, an MLPA to screen for mutations in the BRCA1 gene is recommended as an initial screening test in highly selective settings.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.