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Related Concept Videos

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.
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Abnormal Proliferation02:23

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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-Critical Genes I: Proto-oncogenes01:33

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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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Genomic Imprinting and Inheritance02:30

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Cancers Originate from Somatic Mutations in a Single Cell02:21

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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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Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
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Genetic predisposition to polyposis syndromes.

Natalia García-Simón1, Fátima Valentín2, Atocha Romero3

  • 1Hereditary Cancer Unit, Medical Oncology Department, Puerta de Hierro University Hospital, Majadahonda, 28222, Madrid, Spain.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
|January 10, 2025
PubMed
Summary
This summary is machine-generated.

Hereditary polyposis syndromes increase colorectal cancer (CRC) risk. Genetic diagnosis aids management and surveillance by identifying pathogenic variants, improving patient and family care.

Keywords:
Adenomatous polyposisGenetic testingHamartomatous polyposisHereditary polyposis syndromesSerrated polyposis

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Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • Hereditary polyposis syndromes are key drivers of colorectal cancer (CRC).
  • These syndromes involve diverse polyps, specific inheritance, and extracolonic features.
  • Understanding their genetic basis is crucial for risk assessment.

Purpose of the Study:

  • To review hereditary polyposis syndromes focusing on genetic characteristics.
  • To highlight advances in genetic diagnostics and their impact on management.
  • To discuss challenges in variant pathogenicity determination.

Main Methods:

  • Review of current literature on hereditary polyposis syndromes.
  • Focus on genetic alterations identified through massive sequencing.
  • Analysis of diagnostic criteria and surveillance strategies.

Main Results:

  • Massive sequencing enhances identification of pathogenic germline variants.
  • Genetic diagnosis refines patient treatment, surveillance, and familial risk assessment.
  • Challenges remain in classifying novel mutations of low prevalence.

Conclusions:

  • Genetic insights are transforming the understanding and management of polyposis syndromes.
  • Tailored surveillance based on genotype is essential.
  • Continued research is needed to address diagnostic uncertainties.