ArticleBritish journal of cancer2013
An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing.
Article in British journal of cancer, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 7 citations in OpenAlex.
- Cowden Syndrome and Oral Lesions: A Case Report Using MLPA.The American journal of case reports · 2025Article
- Gingival Overgrowths RevealingBiomedicines · 2022Article
- The genomic landscape of teenage and young adult T-cell acute lymphoblastic leukemia.Cancer medicine · 2021Review
- An Immunohistochemical Study of the PTEN/AKT Pathway Involvement in Canine and Feline Mammary Tumors.Animals : an open access journal from MDPI · 2021Article
- Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- PTEN Methylation Dependent Sinonasal Mucosal Melanoma.Cancer research and treatment · 2016Article
- Analysis of multiple cytokine polymorphisms in individuals with untreated deep carious lesions reveals IL1B (rs1143643) as a susceptibility factor for periapical lesion development.Journal of endodontics · 2015Article
- Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.BMC medical genetics · 2014Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundA cohort of 629 patients with suspected Bannayan-Riley-Ruvalcaba syndrome or Cowden syndrome was tested for mutations in the PTEN gene.
methodsDosage analysis of PTEN was carried out using a PTEN-specific multiplex ligation-dependent probe amplification (MLPA) kit, whereas point mutation analysis was performed using direct sequencing.
resultsApproximately 4% of the patients from the testing cohort were heterozygously deleted for the two MLPA probe-binding sites situated in intron 1. The same deletion was subsequently seen in ∼3% of 220 normal controls, and in patients from the testing cohort with a causative mutation elsewhere in the PTEN gene. Sequencing of the variant revealed an 899 bp deletion, the 3' breakpoint of which is only 58 bp from the start of exon 2.
conclusionAlthough all evidence suggests that the 899 bp deletion is a polymorphism with no clinical effect, it removes the binding sites of almost all published PTEN exon 2 forward primers, resulting in allelic loss during PCR.
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