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相关概念视频

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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Pleiotropy01:33

Pleiotropy

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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

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-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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Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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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.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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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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相关实验视频

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Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
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遗传倾向于发生多发症综合征的遗传倾向.

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
概括

遗传性多重症综合征增加了结直肠癌 (CRC) 的风险. 基因诊断通过识别致病变体,改善患者和家庭的护理,有助于管理和监测.

关键词:
腺体多重体的多重体.基因检测是一种基因检测.这是一种Hamartomatous多元体.遗传性多重症综合征遗传性多重症综合征有的多重构成.

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科学领域:

  • 遗传学 遗传学 是一个
  • 在瘤学瘤学.
  • 胃肠病学 胃肠病学

背景情况:

  • 遗传性多综合征是结直肠癌 (CRC) 的关键驱动因素.
  • 这些综合征涉及多种多,特定的遗传和结肠外特征.
  • 了解它们的遗传基础对于风险评估至关重要.

研究的目的:

  • 重点关注遗传特征的遗传多症综合征的审查.
  • 突出基因诊断的进步及其对管理的影响.
  • 讨论变种病原性确定方面的挑战.

主要方法:

  • 关于遗传多症综合征的当前文献的综述.
  • 专注于通过大规模测序识别的遗传变化.
  • 对诊断标准和监测策略的分析.

主要成果:

  • 大规模测序增强了致病性生殖系变异的识别.
  • 基因诊断精细化了患者的治疗,监测和家族风险评估.
  • 在对低流行率的新突变进行分类方面仍然存在挑战.

结论:

  • 基因洞察力正在改变对多症综合征的理解和管理.
  • 基于基因型的定制监测是必不可少的.
  • 需要继续进行研究,以解决诊断的不确定性.