创始人变种和甲状腺癌风险CHEK2
Pamela Brock1, Sandya Liynarachchi2, Taina T Nieminen3
1Division of Human Genetics, The Ohio State University College of Medicine, Comprehensive Cancer Center, Columbus, Ohio, USA.
Thyroid : official journal of the American Thyroid Association
|January 27, 2024
概括
生殖线CHEK2变异c.1100del和c.470T>C/p.I157T显示,在非波兰人群中,与非骨髓性甲状腺癌 (NMTC) 风险存在适度的关联. 这些发现澄清了与这些常见的CHEK2突变相关的甲状腺癌风险的低幅度.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 在瘤学瘤学.
- 癌症倾向症候群 癌症倾向症候群
背景情况:
- 在CHEK2基因中的生殖系病原体变异与乳腺癌风险增加有关.
- 以前的研究表明,CHEK2变体与非骨髓性甲状腺癌 (NMTC) 风险之间可能存在关联,主要基于波兰人口的数据.
- 在非波兰人群中常见的CHEK2变异,如c.1100del和c.470T>C/p.I157T,与主要在波兰研究的不同.
研究的目的:
- 调查三个常见的CHEK2创始变体 (c.444+1G>A,c.1100del和c.470T>C/p.Ile157Thr) 与NMTC敏感性的关联.
- 评估这些特定的CHEK2变异对波兰以外不同,未经选择的患者队列NMTC风险的影响.
主要方法:
- 采用了病例控制研究设计,分析了三组不同的未经选择的NMTC患者.
- 来自全基因组协会研究 (GWAS) 分析的遗传数据 (1544例NMTC,1593例对照),ORIEN阿凡达外体序列 (789例NMTC) 和癌症基因组图谱 (TCGA) 胚胎系序列 (499例NMTC) 被利用.
- 评估了三个选择的CHEK2变体的频率,并计算了具有95%置信区间 (CI) 的几率比率 (OR).
主要成果:
- 波兰特异性变异c.444+1G>A仅在一个NMTC病例中发现.
- 在CHEK2 c.1100del变异中,NMTC的OR在研究组中从1.71到2.64不等.
- 在CHEK2 c.470T>C/p.I157T变异中,在整个队列中,NMTC的OR显示在1.52和2.31之间.
结论:
- CHEK2变种c.1100del和c.470T>C/p.I157T似乎只会增加患非骨髓性甲状腺癌的风险.
- 这些发现对于医疗保健提供者来说至关重要,表明与非波兰人群中这些特定的常见CHEK2变异相关的甲状腺癌风险的幅度相对较低.
- 这项研究强调了在评估癌症倾向时考虑特定人群变异频率的重要性.
相关概念视频
Cancer-Critical Genes II: Tumor Suppressor Genes
7.4K
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...
7.4K
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
Histone Variants at the Centromere
4.3K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
4.3K
Comparing Copy Number Variations and SNPs
17.7K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
Synthesis and Regulation of Thyroid Hormones
4.6K
Low blood levels of the thyroid hormones — triiodothyronine (T3) and thyroxine (T4) — signal the hypothalamus to release the thyrotropin-releasing hormone (TRH). TRH then reaches the pituitary gland and stimulates the release of thyroid-stimulating hormone(TSH) into the bloodstream.
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The...
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The...
4.6K


