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Mutations01:39

Mutations

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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Single Point Mutations in Pediatric Differentiated Thyroid Cancer.

Ali S Alzahrani1,2, Avaniyapuram Kannan Murugan2, Ebtesam Qasem2

  • 11 Department of Medicine, King Faisal Specialist Hospital and Research Centre , Riyadh, Saudi Arabia .

Thyroid : Official Journal of the American Thyroid Association
|November 9, 2016
PubMed
Summary

Pediatric differentiated thyroid cancer (DTC) shows a lower prevalence of the BRAFV600E mutation compared to adults. This mutation was not associated with histopathological features or outcomes in pediatric papillary thyroid carcinoma (PTC).

Keywords:
BRAFchildrenmutationspediatric thyroid cancerthyroid cancer

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Area of Science:

  • Oncology
  • Genetics
  • Pediatric Medicine

Background:

  • Differentiated thyroid cancer (DTC) is uncommon in children, with distinct clinicopathologic features and mutation profiles compared to adult DTC.
  • Previous research on pediatric DTC mutations was limited to single or a few gene analyses.
  • Comprehensive genetic profiling is needed to understand the molecular landscape of pediatric DTC.

Purpose of the Study:

  • To investigate single point mutations in key genes (BRAF, HRAS, KRAS, NRAS, PIK3CA, PTEN, TERT) in a large cohort of pediatric DTC.
  • To analyze the association between the BRAFV600E mutation and clinicopathologic features in pediatric DTC.
  • To compare mutation profiles in pediatric DTC with those reported in adult DTC.

Main Methods:

  • Analysis of 89 pediatric DTC cases (≤18 years) diagnosed between 1998-2015, focusing on 72 classical PTC and 7 follicular variant PTC.
  • DNA extraction from tumor tissue, followed by PCR amplification and direct sequencing for mutations in BRAF, HRAS, KRAS, NRAS, PIK3CA, PTEN, and TERT.
  • Correlation of BRAFV600E mutation status with clinical and histopathological data, including sex, invasion, multifocality, metastasis, and disease persistence.

Main Results:

  • BRAFV600E mutation was detected in 26.4% of classical PTC cases, significantly lower than in adult DTC.
  • Other detected mutations included rare instances of TERT C228T, NRAS 61, PIK3CA (exons 9 and 20), and PTEN exon 5.
  • No significant association was found between BRAFV600E and clinicopathological features or patient outcomes.

Conclusions:

  • The BRAFV600E mutation is less prevalent in pediatric DTC compared to adult DTC and does not correlate with histopathological characteristics or prognosis.
  • Mutations in PIK3CA, PTEN, NRAS 61, and TERT C228T are infrequent in pediatric DTC.
  • These findings highlight genetic differences between pediatric and adult DTC, underscoring the need for distinct diagnostic and therapeutic approaches.