癌症相关基因的突变在组织上正常的子宫内膜组织中无处不在
Deep Pandya1, Shannon Tomita2, Maria Padron Rhenals3
1The Rudy L. Ruggles Biomedical Research Institute, Nuvance Health, Danbury, CT 06902, United States of America.
Gynecologic oncology
|March 7, 2024
概括
身体突变在非癌性子宫组织中很常见,功能突变随着年龄和BMI的增加而增加. 这一发现对于开发子宫内膜癌诊断至关重要.
科学领域:
- 妇科瘤学 妇科瘤学
- 癌症基因组学 癌症基因组学
- 分子病理学分子病理学
背景情况:
- 子宫内膜癌 (EndoCA) 是最常见的妇科恶性瘤,发病率和死亡率不断上升.
- 现有的关于EndoCA定义突变的知识缺乏有效的诊断或查工具.
- 了解非癌性组织中的突变患病率对于诊断发展至关重要.
研究的目的:
- 为了确定体质突变在组织学上不显著的子宫组织中的患病率和模式.
- 建立开发新型子宫内膜癌诊断和查测试的基础.
- 为了比较正常子宫组织中的突变特征与已知的EndoCA突变.
主要方法:
- 125个与癌症相关的基因的超深度测序 (>2000×覆盖率).
- 对22名没有癌症的女性的≥8个子宫组织样本 (子宫内膜和子宫肌层) 的分析.
- 在非癌性子宫样本中识别和描述体质突变.
主要成果:
- 观察到复杂的突变模式,在24个基因中的56个独特突变中发现了308个体质突变.
- 随着患者年龄和BMI的增加,功能突变变得更加丰富,并且在子宫内膜层比子宫内膜层更为普遍.
- 在关键基因 (例如,NOTCH1,PTEN,TP53,CTNNB1) 与TCGA定义的EndoCA配置文件相比,发现了突变患病率的显著差异.
结论:
- 在组织学上不显著的子宫组织中,存在各种各样的体质突变,包括功能突变.
- 功能性和非功能性突变之间缺乏选择压力可能表明对EndoCA的保护机制.
- 这些发现为未来的液体活检和基于DNA的癌症诊断提供了关键的见解,突出了共享和独特的突变配置文件.
更多相关视频
09:48An Orthotopic Endometrial Cancer Model with Retroperitoneal Lymphadenopathy Made From In Vivo Propagated and Cultured VX2 Cells
Published on: September 12, 2019
8.1K
10:27Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
Published on: July 25, 2020
7.2K
相关概念视频
Cancers Originate from Somatic Mutations in a Single Cell
11.9K
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...
11.9K
Cancer Prevention
6.2K
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...
Some...
6.2K
Mismatch Repair
4.8K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
4.8K
Disorders of the Female Reproductive System
358
The female reproductive system can be affected by several disorders, including Premenstrual Syndrome (PMS), Premenstrual Dysphoric Disorder (PMDD), endometriosis, and various forms of cancer. PMS and PMDD are cyclical conditions that cause physical and emotional distress, with symptoms that include edema, mood swings, and food cravings. PMDD is a more severe form of PMS characterized by increased symptom severity that peaks during the luteal phase and tends to improve or resolve shortly after...
358
