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mTOR Signaling and Cancer Progression03:03

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The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
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Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
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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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Updated: Jan 17, 2026

Three-Dimensional Bone Extracellular Matrix Model for Osteosarcoma
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SMARCAL1 is a new osteosarcoma predisposition gene.

Maryam Rafati1, Lillian M Guenther2, Laura E Egolf1,3

  • 1Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.

Journal of the National Cancer Institute
|September 25, 2025
PubMed
Summary
This summary is machine-generated.

The SMARCAL1 gene is linked to a higher risk of developing osteosarcoma, a common childhood bone cancer. Individuals with SMARCAL1 pathogenic variants showed improved survival rates, identifying it as a potential predisposition gene.

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Establishment of Cancer Stem Cell Cultures from Human Conventional Osteosarcoma
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Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Osteosarcoma is the most frequent childhood bone tumor, typically sporadic.
  • Rare cases are associated with cancer predisposition syndromes.
  • Predisposing genetic factors for most osteosarcoma cases remain largely unknown.

Purpose of the Study:

  • To investigate the frequency of SMARCAL1 pathogenic variants in osteosarcoma.
  • To examine the relationship between SMARCAL1 variants and patient characteristics.
  • To determine the population prevalence and osteosarcoma risk associated with SMARCAL1 variants.

Main Methods:

  • Analysis of 2,119 osteosarcoma cases and 2,625 cancer-free controls.
  • Sequencing to identify SMARCAL1 pathogenic variants.
  • Utilized UK Biobank exome data (469,557 individuals) for population prevalence and risk assessment.

Main Results:

  • SMARCAL1 pathogenic variants were more frequent in osteosarcoma cases (1.8%) than controls (0.3%).
  • Cases with SMARCAL1 variants exhibited significantly improved overall survival (HR 0.36, P=.034).
  • UK Biobank data revealed a 33-fold increased risk of osteosarcoma in individuals with SMARCAL1 pathogenic variants.

Conclusions:

  • SMARCAL1 is identified as a novel gene predisposing to osteosarcoma.
  • These findings highlight SMARCAL1's role in osteosarcoma etiology.
  • Further research is warranted to elucidate the underlying mechanisms of SMARCAL1 in osteosarcoma development.