在患有非骨髓性甲状腺癌的儿童中临床相关的生殖系变异
Karin van der Tuin1, Dina Ruano2, Jeroen Knijnenburg1
1Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
The Journal of clinical endocrinology and metabolism
|February 28, 2024
概括
基因分析显示,13%的儿童非骨髓性甲状腺癌 (NMTC) 患者携带已知的瘤倾向基因中的生殖系变异. 这一发现支持所有儿科NMTC病例的遗传咨询.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 大多数儿科非骨髓性甲状腺癌 (NMTC) 的遗传基础仍未确定.
- 这种知识差距阻碍了对受影响家庭的预测测试和预防策略.
研究的目的:
- 为了调查儿科NMTC的遗传性.
- 分析迄今为止最大的儿童NMTC患者基因型队列.
主要方法:
- 一项全国性的回顾性队列研究包括97名儿科NMTC患者 (1970-2020年).
- 进行了生殖线全基因组测序.
- 突变检测侧重于临床相关的瘤倾向基因和之前涉及的NMTC基因.
主要成果:
- 在13% (13/97) 的患者中,已知瘤倾向基因的生殖系病原体变异被确定.
- 检测到的基因包括APC,BRCA2,CHEK2,DICER1,HOXB13和MITF.
- 一名患者患有Pendred综合征 (SLC26A4),在其他NMTC候选基因中发现了9种高度感兴趣的变异.
结论:
- 已知基因中生殖系变异的13%的患病率,为所有儿童NMTC患者提供遗传咨询.
- 确定的综合征增加了第二种癌症的风险,需要加强对有风险的亲属的监测和基因测试.
更多相关视频
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
9.7K
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
33.8K
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
The Retinoblastoma Gene
4.1K
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,...
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,...
4.1K
Mutations
82.2K
Overview
82.2K
Loss of Tumor Suppressor Gene Functions
4.8K
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.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
4.8K
Cancer-Critical Genes I: Proto-oncogenes
8.9K
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...
8.9K
