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相关概念视频

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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Metastasis02:30

Metastasis

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Metastasis is the spread of cancer cells from the original site to distant locations in the body. Cancer cells can spread via blood vessels (hematogenous) as well as lymph vessels in the body.
Epithelial-to-Mesenchymal Transition
The epithelial-to-mesenchymal transition or EMT is a developmental process commonly observed in wound healing, embryogenesis, and cancer metastasis. EMT is induced by transforming growth factor-beta (TGF-β) or receptor tyrosine kinase (RTK) ligands, which further...
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Targeted Cancer Therapies02:57

Targeted Cancer Therapies

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The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...
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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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The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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相关实验视频

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In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose
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转移性乳腺癌中的体质BRCA突变

Tristan B Minick1, Robert A Norman2

  • 1Dermatology, University of Florida, Gainesville, USA.

Cureus
|January 1, 2024
PubMed
概括

转移性乳腺癌复发在BRCA2缺乏瘤的患者中被olapararib (Lynparza) 有效治疗,这表明了晚期疾病的新治疗途径.

科学领域:

  • 在瘤学瘤学.
  • 遗传学 遗传学 是一个
  • 皮肤病学 皮肤病学

背景情况:

  • 带有叶状特征的多中心侵入性导管性乳腺癌是一个复杂的临床挑战.
  • 转移性乳腺癌需要有效的治疗策略来预防复发和控制疾病的进展.

研究的目的:

  • 为了研究转移性乳腺癌在BRCA2损失的患者的遗传基础.
  • 评估向治疗对治疗复发性转移性乳腺癌的疗效.

主要方法:

  • 皮肤病变的诊断活检.
  • 基金会 一个全面的瘤组织基因组分析.
  • 对BRCA1和BRCA2突变进行生殖系DNA测试.
  • 用放射治疗,内分泌治疗 (Faslodex,Ibrance) 和 PARP 抑制剂 (Lynparza/olaparib) 的治疗.

主要成果:

  • 瘤组织显示BRCA2损失,但生殖线DNA测试对致病性BRCA1/2突变呈阴性.
  • 患者在初始治疗后接受了Lynparza (olaparib).
  • 在Lynparza治疗开始两年后,该患者没有经历额外的瘤复发.

结论:

关键词:
这是一种BRCA基因突变.乳腺癌转移的发生.癌症基因组学 癌症基因组学皮肤病变活检皮肤病变活检这是一种宽切割法.

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  • 转移性乳腺癌的体质BRCA2损失可以成为PARP抑制剂治疗的目标,即使没有生殖系突变.
  • 林帕扎 (olaparib) 在预防转移性乳腺癌患者复发方面表现出显著的有效性.
  • 综合性基因组分析对于识别晚期癌症中可操作的突变至关重要.