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Related Concept Videos

Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

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
While point mutations are changes in a single nucleotide in...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase01:27

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

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...
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...

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Yeast As a Chassis for Developing Functional Assays to Study Human P53
14:57

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Published on: August 4, 2019

Germline TP53 mutations and single nucleotide polymorphisms in children.

Pamela Valva1, Pablo Becker, Patricia Streitemberger

  • 1Laboratorio de Biología Molecular, Servicio de Anatomía Patológica, Hospital de Niños Ricardo Gutiérrez, 1425 Buenos Aires, Argentina. valvapamela@yahoo.com

Medicina
|May 6, 2009
PubMed
Summary

TP53 germline mutations are investigated in pediatric cancer patients. A specific mutation was found in one patient, and polymorphisms showed a trend toward cancer risk association in Argentinian children.

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Area of Science:

  • Genetics and Oncology
  • Molecular Biology

Background:

  • TP53 gene mutations are prevalent in approximately 50% of human tumors.
  • TP53 mutations can occur somatically or in the germline, with germline mutations linked to hereditary cancer syndromes.
  • Pediatric cancer patients, especially those with a family history of malignancy, are a key demographic for investigating germline TP53 variants.

Purpose of the Study:

  • To determine the frequency and distribution of germline TP53 mutations and polymorphisms in a pediatric cohort in Argentina.
  • To explore the potential association between TP53 germline variants and tumor development in pediatric cancer patients.

Main Methods:

  • Analysis of germline DNA from peripheral blood mononuclear cells of 26 pediatric patients with solid tumors (PST) and 21 healthy donors (HD).
  • Sequencing of PCR-amplified fragments of the TP53 gene, specifically exons 5-8 and introns 5 and 7, to identify variations.
  • Comparative analysis of mutation and polymorphism frequencies between PST and HD groups.

Main Results:

  • A heterozygous mutation at codon 245 of the TP53 gene was identified in one pediatric patient with solid tumors (1/26 PST) but not in healthy donors (0/21 HD).
  • A trend towards an association between specific polymorphisms in intron 7 (positions 14181 and 14201) and cancer risk was observed (p=0.07).
  • The polymorphism distribution in healthy donors aligns with previously published data for Caucasian and Central/South American populations.

Conclusions:

  • This study provides the first data on TP53 variant frequency and distribution in both healthy individuals and cancer patients in Argentina.
  • The findings suggest a potential role for TP53 germline variations in pediatric solid tumor development within this population.
  • Further research with larger cohorts is warranted to confirm the association between TP53 polymorphisms and pediatric cancer risk.