ReviewMolecular pathology : MP2003
Emerging roles of BRCA1 alternative splicing.
Review in Molecular pathology : MP, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 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
62 citing papers in PubMed, 2 syntheses or guidelines pooled it, 140 citations in OpenAlex.
- Effectiveness and safety of poly (ADP-ribose) polymerase inhibitors in cancer therapy: A systematic review and meta-analysis.Oncotarget · 2016Pooled it
- Effects of BRCA1- and BRCA2-related mutations on ovarian and breast cancer survival: a meta-analysis.Clinical cancer research : an official journal of the American Association for Cancer Research · 2015Pooled it
- Case report: Deciphering the clinical significance of a novel partialFrontiers in oncology · 2025Article
- BRCA1/2 mutations and outcomes among Middle Eastern patients with early-onset breast cancer in Oman.The oncologist · 2024Article
- Alternative splicing in ovarian cancer.Cell communication and signaling : CCS · 2024Review
- Functional Characterization of the Human BRCA1 ∆11 Splicing Isoforms in Yeast.International journal of molecular sciences · 2024Article
- Adaptive nanopore sequencing to determine pathogenicity ofJournal of medical genetics · 2023Article
- Learning from cancer to address COVID-19.Biologia futura · 2023Review
- Hybrid-seq deciphers the complex transcriptional profile of the humanRNA biology · 2023Article
- Reclassification of Five BRCA1/2 Variants with Unknown Significance Using Complex Functional Study.Cancer research and treatment · 2022Article
- Decoding cancer and herbal renaissance.Longhua Chinese medicine · 2022Article
- Complementary Square-Wave Voltammetry and LC-MS/MS Analysis to Elucidate Induced Damaged and Mutated Mitochondrial and Nuclear DNA from in Vivo Knockdown of theAnalytical chemistry · 2021Article
- DoChaP: the domain change presenter.Nucleic acids research · 2021Article
- Review
- Review
- A Proteomic Connectivity Map for Characterizing the Tumor Adaptive Response to Small Molecule Chemical Perturbagens.ACS chemical biology · 2020Article
- Article
- Gene Regulatory Network Perturbation by Genetic and Epigenetic Variation.Trends in biochemical sciences · 2018Review
- Characterization of a novel germline BRCA1 splice variant, c.5332+4delA.Breast cancer research and treatment · 2018Article
- Centromere-associated protein E expresses a novel mRNA isoform in acute lymphoblastic leukemia.International journal of molecular epidemiology and genetics · 2018Article
2 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations of the BRCA1 gene predispose individuals mainly to the development of breast and/or ovarian cancer. However, the exact function of the gene is still unclear, although the encoded proteins are involved in various cellular processes, including transcriptional regulation and DNA repair pathways. Several BRCA1 splice variants are found in different tissues, but in spite of intense investigations, their regulation and possible functions are poorly understood at the moment. This review summarises current knowledge on the roles of these splice variants and the mechanisms responsible for their formation. Because alternative splicing is now widely accepted as an important source of genetic diversity, elucidating the functions of the BRCA1 splice variants would help in the understanding of the exact role(s) of this tumour suppressor. This should help to resolve the current paradox that, despite its seemingly vital cellular functions, mutations of this gene are associated with tissue specific tumour formation predominantly in the breast and the ovary.
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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.