在阿拉伯人口中实施全癌症生殖系基因检测:约旦探索性癌症遗传学研究
Hikmat Abdel-Razeq1,2, Baha' Sharaf1, Hira Bani Hani1
1King Hussein Cancer Center, Amman, Jordan.
JCO global oncology
|June 6, 2024
概括
约旦的普世生殖基因测试 (GGT) 在癌症患者中确定了可操作的致病性生殖基因变异 (PGV),包括那些超出标准标准的变异. 这种方法成功地影响了癌症护理,因为它揭示了基于指导方针的测试遗漏的关键遗传信息.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 公共卫生 公共卫生
背景情况:
- 生殖系基因检测 (GGT) 对癌症治疗至关重要,但其在西方国家以外的普遍应用尚未得到充分研究.
- 了解不同人群中的GGT采用对于公平的癌症管理至关重要.
研究的目的:
- 在约旦的胰腺癌队列中评估通用GGT的可行性和影响.
- 确定符合和不符合既定标准的患者中致病性生殖系变异 (PGV) 的频率.
- 评估GGT导致的临床管理变化.
主要方法:
- 在2021年4月至2022年9月期间,3319名未经选择的约旦癌症患者接受了GGT.
- 根据2020年NCCN指南,患者被分为符合标准 (IC) 或不符合标准 (OOC).
- 统计分析,包括费舍尔的精确测试,用于比较PGV频率和评估管理变化.
主要成果:
- 队列中69.9%是女性,平均年龄为53.7岁;53.1%是IC.
- 在IC (15.8%) 与OOC (9.6%) 患者中,PGV的发生频率更高 (P < .0001),但在OOC患者中发现了34.8%的PGV.
- 临床管理变化发生在57.3%的高/中等风险PGV患者中,包括26.1%的OOC患者.
结论:
- 全球GGT在约旦成功实施,用于新诊断的癌症患者.
- 该战略确定了可操作的PGV,而基于指导方针的测试将会错过.
- 全球GGT证明了在非西方环境中改善癌症护理的潜力.
相关概念视频
01:33Cancer-Critical Genes I: Proto-oncogenes
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...
02:59Cancer Prevention
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...
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
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...
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
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...
02:59Cancer Prevention
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...
01:21Cancer Survival Analysis
Cancer survival analysis focuses on quantifying and interpreting the time from a key starting point, such as diagnosis or the initiation of treatment, to a specific endpoint, such as remission or death. This analysis provides critical insights into treatment effectiveness and factors that influence patient outcomes, helping to shape clinical decisions and guide prognostic evaluations. A cornerstone of oncology research, survival analysis tackles the challenges of skewed, non-normally...