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Related Concept Videos

Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

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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.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
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Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

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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.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
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Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

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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.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
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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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Tumor Progression02:07

Tumor Progression

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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.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
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Updated: Sep 11, 2025

In Vivo Inhibition of MicroRNA to Decrease Tumor Growth in Mice
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Novel Mutation Associated With Papillary Thyroid Cancer.

Deepashree Gupta1, Israa Laklouk2, Sang Ngo3

  • 1Division of Endocrinology, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, California.

AACE Endocrinology and Diabetes
|August 11, 2025
PubMed
Summary
This summary is machine-generated.

A novel FAT1 gene mutation was identified in a patient with papillary thyroid cancer. This finding suggests FAT1 variations may be a new molecular marker for this common thyroid cancer.

Keywords:
molecular markersmutationthyroid cancer

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Area of Science:

  • Oncology
  • Genetics
  • Molecular Diagnostics

Background:

  • Thyroid nodules require accurate diagnosis, often aided by molecular testing for indeterminate cases.
  • Molecular testing has identified novel mutations in thyroid cancer, expanding our understanding of its genetic landscape.

Observation:

  • A 47-year-old female presented with a cytologically indeterminate thyroid nodule (Bethesda III).
  • Molecular analysis revealed a specific FAT1 gene mutation (FAT1p.V912I c.2734G>A).
  • Histopathology confirmed papillary thyroid cancer in the nodule.

Findings:

  • This is the first reported case of a FAT1 mutation in papillary thyroid cancer.
  • The FAT1 mutation has previously been linked to head and neck squamous cell carcinoma.

Implications:

  • FAT1 gene variation may represent a novel oncogenic driver or biomarker in papillary thyroid cancer.
  • Further research is warranted to explore the role of FAT1 mutations in thyroid tumorigenesis and clinical management.