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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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PTPN14 Mutations and Cervical Cancer.

Steven Lehrer1, Peter H Rheinstein2

  • 1Department of Radiation Oncology, Icahn School of Medicine at Mount Sinai, New York, NY, U.S.A.

Cancer Diagnosis & Prognosis
|April 11, 2022
PubMed
Summary

Rare PTPN14 gene variants increase cervical cancer risk. However, PTPN14 mutations in cervical cancer patients indicate better survival, suggesting a favorable prognostic role. Further research is needed.

Keywords:
The Cancer Genome Atlascervical cancergenetics

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Area of Science:

  • Genomics
  • Oncology
  • Molecular Biology

Background:

  • Germline loss-of-function variants in the tyrosine-protein phosphatase non-receptor type 14 (PTPN14) gene are linked to basal cell carcinoma risk.
  • PTPN14 loss-of-function variants are associated with increased risk and earlier onset of cervical cancer.

Purpose of the Study:

  • To investigate the association between PTPN14 and cervical cancer using The Cancer Genome Atlas (TCGA) data.
  • To evaluate PTPN14's role as a prognostic factor in cervical cancer.

Main Methods:

  • Analysis of TCGA cervical cancer (CESC) dataset via Genomic Data Commons (GDC).
  • Utilized cBioPortal for Cancer Genomics and UCSC Xena Browser for data access and analysis.
  • Correlated PTPN14 mutation status and expression levels with patient survival data.

Main Results:

  • Patients with PTPN14 mutations exhibited significantly better survival compared to those without (p=0.05).
  • Low PTPN14 expression in cervical cancer tissues correlated with improved survival.

Conclusions:

  • PTPN14 mutation acts as a favorable prognostic factor in TCGA cervical cancer specimens.
  • Contrasts with germline variants, which confer a worse prognosis.
  • Further investigation into specific PTPN14 mutations is warranted.