在BRCA1/2突变儿科固体和中枢神经系统瘤中,异构性损失不会发生
Andrew Groves1, Abigail Ward2, Yvonne Y Li3,4
1Division of Pediatric Hematology/Oncology, University of Iowa Stead Family Children's Hospital, Iowa City, Iowa, USA.
Pediatric blood & cancer
|August 19, 2023
概括
在儿科癌症瘤测序中发现的致病性BRCA1/2突变通常是偶然发现. 进一步的生殖序列测序证实了这些突变可能与异性丧失无关.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
背景情况:
- 仅瘤测序越来越多地用于儿科癌症.
- 这种方法可以识别像BRCA1 / 2这样的基因中的致病变体,这些基因在同源重组 (HR) 中发挥作用.
- 这些变异的生殖系或体质起源和临床意义可能不清楚.
研究的目的:
- 在儿童癌症患者中通过瘤单一测序确定BRCA1/2突变的性质.
- 为了确定生殖线与体质突变的频率.
- 评估已确定的BRCA1/2突变患者的异构性丧失 (LOH).
主要方法:
- 儿童癌症患者的回顾性审查.
- 通过体质瘤测序识别致病性BRCA1/2突变.
- 额外的生殖线测序的性能.
- 对异构性损失 (LOH) 的分析.
主要成果:
- 从瘤测序中确定了7名患有病原性BRCA1/2突变的儿科癌症患者.
- 其中四种突变 (57.1%) 已被证实为生殖系起源.
- 鉴定到的生殖系突变中,没有一个显示出与此相关的异构性 (LOH) 丧失.
结论:
- 在小儿癌症患者的仅瘤测序中检测到的BRCA1/2突变通常是偶然发现.
- 这些突变很可能是遗传的,而不是体质获得的瘤驱动因素.
- 进一步的生殖基因检测对于准确解释该人群中的BRCA1/2变异至关重要.
相关概念视频
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
Loss of Tumor Suppressor Gene Functions
4.9K
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...
4.9K
Cancer-Critical Genes II: Tumor Suppressor Genes
7.5K
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...
7.5K
Cancers Originate from Somatic Mutations in a Single Cell
12.0K
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...
12.0K

