在乳腺癌中,PIK3CA体质突变与临床病理参数的关联
Gizem Teoman1, Zeynep Turkmen Usta1, Zeynep Sagnak Yilmaz1
1Karadeniz Technical University, Faculty of Medicine, Department of Pathology, Trabzon, Turkey.
概括
这项研究发现,45%的乳腺癌患者患有PIK3CA基因突变,这些突变与瘤大小和位置有关. 需要对更大的患者群体进行进一步的研究来证实这些发现.
科学领域:
- 在瘤学瘤学.
- 分子生物学分子生物学
- 遗传学 是一个遗传学.
背景情况:
- 酶酸丁酸-3-酶 (PI3K) 在调节细胞增殖和细胞亡方面发挥着至关重要的作用.
- 皮克3CA基因的体质突变与加速这些细胞过程有关,对乳腺癌的发展和进展作出了重大贡献.
研究的目的:
- 在乳腺癌患者中识别PIK3CA基因突变.
- 研究PIK3CA突变与特定临床病理特征之间的相关性.
主要方法:
- 下一代测序 (NGS) 用于分析100个原发性乳腺癌样本中的PIK3CA基因.
- 进行了统计分析,以评估PIK3CA突变与临床病理特征之间的关联.
主要成果:
- 在PIK3CA基因中观察到45%的突变率.
- 热点突变包括E545K (33.3%),H1047R (26.7%) 和E542K (6.7%). 热点突变包括E545K (33.3%),H1047R (26.7%) 和E542K (6.7%). 热点突变包括E545K (33.3%),H1047R (26.7%) 和E542K (6.7%).
- PIK3CA突变与瘤大小 (p=0.015) 和瘤位置 (p=0.017) 有显著的相关性.
结论:
- 乳腺癌中PIK3CA突变的存在与瘤大小和位置显著相关.
- 这些发现需要在更大的患者队伍中验证,以巩固其临床相关性.
相关概念视频
PI3K/mTOR/AKT Signaling Pathway
3.4K
The mammalian target of rapamycin (mTOR) is a serine/threonine kinase that regulates growth, proliferation, and cell survival in response to hormones, growth factors, or nutrient availability. This kinase exists in two structurally and functionally distinct forms: mTOR complex 1 (mTORC1) and mTOR complex 2 (mTORC2). The first form (mTORC1) is composed of a rapamycin-sensitive Raptor and proline-rich Akt substrate, PRAS40. In contrast, mTORC2 consists of a...
3.4K
mTOR Signaling and Cancer Progression
3.7K
The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
The mTOR pathway or the...
3.7K
Cancers Originate from Somatic Mutations in a Single Cell
11.5K
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...
11.5K
Interactions Between Signaling Pathways
6.2K
Signaling cascades usually lack linearity. Multiple pathways interact and regulate one another, allowing cells to integrate and respond to diverse environmental stimuli.
Convergence and divergence, and cross-talk between signaling pathways
Two distinct signaling pathways can converge on a single functional unit, which may either be a single protein or a complex of proteins. The response is either functionally distinct or synergistic between the two pathways but different from the response...
Convergence and divergence, and cross-talk between signaling pathways
Two distinct signaling pathways can converge on a single functional unit, which may either be a single protein or a complex of proteins. The response is either functionally distinct or synergistic between the two pathways but different from the response...
6.2K
Abnormal Proliferation
4.4K
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...
4.4K
Cancer-Critical Genes I: Proto-oncogenes
8.7K
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...
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...
8.7K


