ArticleHuman mutation2017
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
Article in Human mutation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
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Who cites it
27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature.Annals of medicine · 2025Pooled it
- Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.Genome medicine · 2019Pooled it
- Variant-resolved prediction of context-specific isoform variation with a graph-based attention model.Cell genomics · 2026Article
- Comprehensive genomic profiling of Taiwanese triple-negative breast cancer samples with medium- and large-sized sequencing panels: A comparative study implicating treatment allocations.Biomedical reports · 2025Article
- Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes.European journal of human genetics : EJHG · 2025Article
- Cowden Syndrome and Oral Lesions: A Case Report Using MLPA.The American journal of case reports · 2025Article
- Paired DNA/RNA testing uncovers a deep intronicFrontiers in oncology · 2025Article
- RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis.Human mutation · 2024Article
- The role of alternative pre-mRNA splicing in cancer progression.Cancer cell international · 2023Review
- Review
- Rare Hereditary Gynecological Cancer Syndromes.International journal of molecular sciences · 2022Review
- Identification of a Cowden syndrome patient with a novel PTEN mutation and establishment of patient-derived induced pluripotent stem cells.In vitro cellular & developmental biology. Animal · 2022Article
- Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature.Hormones (Athens, Greece) · 2021Review
- The surgical resection of dysplastic cerebellar gangliocytoma assisted by intraoperative sonography: illustrative case.Journal of neurosurgery. Case lessons · 2021Article
- Article
- Invasive apocrine carcinoma of the breast: clinicopathologic features and comprehensive genomic profiling of 18 pure triple-negative apocrine carcinomas.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- The Complex Landscape ofCold Spring Harbor perspectives in medicine · 2020Review
- PTEN in Hereditary and Sporadic Cancer.Cold Spring Harbor perspectives in medicine · 2020Review
- TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia.BMC cancer · 2020Article
- A Rare Complex BRAF Mutation Involving Codon V600 and K601 in Primary Cutaneous Melanoma: Case Report.Frontiers in oncology · 2020Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Germline mutations in the tumor-suppressor gene PTEN predispose to subsets of Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, and autism. Evidence-based classification of PTEN variants as either deleterious or benign is urgently needed for accurate molecular diagnosis and gene-informed genetic counseling. We studied 34 different germline PTEN intronic variants from 61 CS patients, characterized their PTEN mRNA processing, and analyzed PTEN expression and downstream readouts of P-AKT and P-ERK1/2. While we found that many mutations near splice junctions result in exon skipping, we also identified the presence of cryptic splicing that resulted in premature termination or a shift in isoform usage. PTEN protein expression is significantly lower in the group with splicing changes while P-AKT, but not P-ERK1/2, is significantly increased. Our observations of these PTEN intronic variants should contribute to the determination of pathogenicity of PTEN intronic variants and aid in genetic counseling.
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Registered trials
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