ArticleScientific reports2015
Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Summary ofGenes · 2020Pooled it
- BARD1: A Friend or Foe in Pancreatic Ductal Adenocarcinoma?International journal of molecular sciences · 2025Review
- Germline variants associated with breast cancer in Khakass women of North Asia.Molecular biology reports · 2023Article
- Article
- Article
- Review
- Review
- Functional analysis of clinicalCold Spring Harbor molecular case studies · 2019Article
- Article
- Recent advances of therapeutic targets based on the molecular signature in breast cancer: genetic mutations and implications for current treatment paradigms.Journal of hematology & oncology · 2019Review
- Article
- Mild antagonistic effect of Valproic acid in combination with AZD2461 in MCF-7 breast cancer cells.Medical journal of the Islamic Republic of Iran · 2019Article
- Frequency of pathogenic germline mutations in cancer susceptibility genes in breast cancer patients.Medical oncology (Northwood, London, England) · 2018Article
- The 30 kb deletion in theOncotarget · 2017Article
- Structural basis to stabilize the domain motion of BARD1-ARD BRCT by CstF50.Scientific reports · 2017Article
- Article
- MLPA-Based Analysis of Copy Number Variation in Plant Populations.Frontiers in plant science · 2017Article
- Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment.PeerJ · 2017Article
- MTTE: an innovative strategy for the evaluation of targeted/exome enrichment efficiency.Oncotarget · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Only approximately 50% of all familial breast cancers can be explained by known genetic factors, including mutations in BRCA1 and BRCA2. One of the most extensively studied candidates for breast and/or ovarian cancer susceptibility is BARD1. Although it was suggested that large mutations may contribute substantially to the deleterious variants of BARD1, no systematic study of the large mutations in BARD1 has been performed. To further elucidate the role of large mutations in BARD1, we designed a multiplex ligation-dependent probe amplification (MLPA) assay and performed an analysis of 504 women with a familial breast and/or ovarian cancer and 313 patients with ovarian cancer. The investigation did not reveal any large mutations in the BARD1 gene. Although the analysis was not focused on identification of small mutations, we detected seven deleterious or potentially deleterious point mutations, which contribute substantially to the total number of BARD1 mutations detected so far. In conclusion, although we cannot exclude the presence of large mutations in BARD1, our study indicates that such mutations do not contribute substantially to the risk of breast and/or ovarian cancer. However, it has to be noted that our results may be specific to the Polish population.
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.