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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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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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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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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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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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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Related Experiment Video

Updated: Jul 7, 2025

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

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Susceptibility Genes Associated with Multiple Primary Cancers.

Mengyao Lu1, Xuemei Zhang1, Qian Chu1

  • 1Department of Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.

Cancers
|December 23, 2023
PubMed
Summary
This summary is machine-generated.

Identifying multiple primary cancers (MPCs) is vital for cancer survivors. Next-generation sequencing (NGS) reveals key genetic mutations and susceptibility genes that help distinguish MPCs from recurrence, guiding better treatment strategies.

Keywords:
genetic predispositionmultiple primary cancersnext-generation sequencingsecond cancersusceptibility genes

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Area of Science:

  • Oncology
  • Genetics
  • Cancer Research

Background:

  • Increasing numbers of cancer survivors are diagnosed with multiple primary cancers (MPCs), impacting about 1 in 6 patients.
  • Current clinicopathological criteria are insufficient for differentiating MPCs from tumor recurrences or metastases.
  • Next-generation sequencing (NGS) offers a powerful genetic approach to defining MPCs.

Purpose of the Study:

  • To review susceptibility genes involved in the development of multiple primary cancers.
  • To explain the functions of these genes within their signaling pathway contexts.
  • To summarize the association networks between genetic signatures and various tumor pairs.

Main Methods:

  • Review of existing literature on genetic mutations associated with multiple primary cancers.
  • Analysis of next-generation sequencing (NGS) data to identify key genetic alterations.
  • Exploration of specific pleiotropic loci and deleterious mutations influencing second cancer development.

Main Results:

  • Essential mutations in genes such as MLH1/MSH2, EGFR, PTEN, BRCA1/2, CHEK2, and TP53 are crucial for identifying MPCs.
  • Certain deleterious mutations act as regulatory factors in the development of secondary cancers post-treatment.
  • Understanding genetic signatures provides insights into the biological underpinnings of MPC development.

Conclusions:

  • NGS-based genetic analysis is essential for accurate identification and characterization of multiple primary cancers.
  • Susceptibility genes and their signaling pathways play a critical role in cancer survivor outcomes.
  • This genetic perspective aids in distinguishing MPCs from recurrences, optimizing treatment decisions.