遗传变异影响儿科骨肉瘤患者口腔粘膜炎的严重程度
Renata de Almeida Zieger1, Mariana Rodrigues Botton2, Marina Curra1,3
1Department of Oral Pathology, School of Dentistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Oral diseases
|December 10, 2024
概括
在ABC家族基因 (ABCA3,ABCC2,ABCC6) 中的遗传变异与接受化疗的儿科骨肉瘤患者的口腔粘膜炎 (OM) 风险和严重程度有关. 这突显了宿主基因组学在OM发展中的作用.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 药物基因组学 药物基因组学
背景情况:
- 口腔粘膜炎 (OM) 是化学疗法的常见,使人虚弱的副作用.
- 患者对OM的敏感性有所不同,部分原因是遗传因素.
- 了解遗传倾向可以个性化OM风险评估.
研究的目的:
- 调查遗传变异与OM存在/严重程度之间的关联.
- 定义宿主基因组学在儿童骨髓瘤患者OM风险中的作用.
- 分析与化疗诱导的OM相关的特定基因变异.
主要方法:
- 纵向观测回顾性研究设计.
- 使用世界卫生组织 (WHO) 标准进行每日OM严重性评估.
- 在17个候选基因中测序54个编码区域的下一代测序.
主要成果:
- 在164个化疗周期中,78.7%的口腔粘膜炎发生.
- 在HDMTX治疗期间,ABCA3 (rs13332514) 与OM存在相关.
- ABCC2 (rs2273697) 与OM严重程度相关;ABCC2和ABCC6变异在多克索鲁比+西斯治疗中与OM相关.
结论:
- ABC家族基因 (ABCA3,ABCC2,ABCC6) 与OM风险和严重程度有关.
- 宿主遗传变异会影响小儿骨髓瘤患者OM的发展.
- 基因组分析可能有助于在癌症治疗期间预测和管理OM.
相关概念视频
Cancer Therapies
7.6K
Cancer therapies are various modes of treatment, such as surgery, radiation therapy, and chemotherapy that are administered to cancer patients.
However, cancer treatments can pose several challenges, as therapies used to kill cancer cells are generally also toxic to normal cells. Moreover, cancer cells mutate rapidly and can develop resistance to chemical agents or radiation therapy. Besides, all types of cancer cells may not respond to the same therapy. Some cancer cells respond to one...
However, cancer treatments can pose several challenges, as therapies used to kill cancer cells are generally also toxic to normal cells. Moreover, cancer cells mutate rapidly and can develop resistance to chemical agents or radiation therapy. Besides, all types of cancer cells may not respond to the same therapy. Some cancer cells respond to one...
7.6K
Pleiotropy
39.8K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
39.8K
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
Rous Sarcoma Virus (RSV) and Cancer
5.0K
Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
5.0K


