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Related Concept Videos

Abnormal Proliferation02:23

Abnormal Proliferation

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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...
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Cancer Prevention02:59

Cancer Prevention

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Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
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In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...
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In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...
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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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Related Experiment Video

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

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p53 and hereditary cancer.

Diana Merino1, David Malkin

  • 1Division of Hematology/Oncology, Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, ON, Canada.

Sub-Cellular Biochemistry
|September 10, 2014
PubMed
Summary

Li-Fraumeni syndrome (LFS) involves TP53 mutations, leading to high cancer risks. Genetic modifiers and mouse models help understand LFS tumor development and p53

Area of Science:

  • Genetics and Molecular Biology
  • Cancer Research
  • Genomic Instability

Background:

  • The p53 protein, known as the "guardian of the genome," regulates critical cellular processes including cell cycle, DNA repair, apoptosis, metabolism, and senescence.
  • Loss of p53 activity, often due to TP53 mutations, is common in sporadic cancers.
  • Li-Fraumeni syndrome (LFS) is a rare, highly penetrant familial cancer syndrome linked to germline TP53 mutations.

Purpose of the Study:

  • To provide an overview of the molecular basis of Li-Fraumeni syndrome (LFS).
  • To elucidate the role of p53 in this heritable cancer syndrome.
  • To explore genetic modifiers influencing the phenotypic variability in LFS patients.

Main Methods:

  • Analysis of germline TP53 mutations in LFS families.

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Establishment of Proliferative Tetraploid Cells from Nontransformed Human Fibroblasts
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  • Examination of genetic modifiers through single nucleotide polymorphism (SNP) analysis, genome-wide copy number, and telomere length studies.
  • Utilizing Trp53 mutant heterozygous mouse models to study p53 functions and tumorigenesis mechanisms.

    • Main Results:

    • 60-80% of classic LFS families carry mutant Trp53, with common cancers including breast cancer, sarcomas, adrenal cortical carcinomas, and brain tumors.
    • Genetic analyses (SNPs, copy number, telomere length) offer insights into potential LFS genetic modifiers.
    • Trp53 mutant mouse models have revealed novel p53 functions and mechanisms of tumorigenesis in LFS.

    Conclusions:

    • TP53 is the primary validated susceptibility locus for LFS, characterized by nearly 100% penetrance by age 70.
    • Understanding genetic modifiers is crucial for explaining the diverse clinical presentations in LFS.
    • Studies in mouse models contribute significantly to unraveling the complex role of p53 in LFS pathogenesis.