基于临床公共卫生实用性的主流瘤学中乳腺癌生殖系多基因小组测试:ESMO精密瘤学工作组建议
C Turnbull1, M I Achatz2, J Balmaña3
1Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
概括
乳腺癌 (BC) 的生殖基因检测应集中在具有改善癌症死亡率的明确证据的基因上. 这确保了针对已识别的基因载体的干预措施在临床上是合理的,并且具有成本效益.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 公共卫生 公共卫生
背景情况:
- 胚胎基因检测越来越多地提供给乳腺癌 (BC) 患者.
- 测试面板的差异很大,影响了病原体变异的识别和随后的患者管理.
- 识别生殖系致病变体 (GPVs) 可以导致诸如降低风险的手术和对载体的密集监测等干预措施.
研究的目的:
- 建立评估乳腺癌易感基因 (BCSGs) 的标准,以便纳入主流瘤学多基因小组测试 (BC-MGPT).
- 评估BCSG的临床实用性和对癌症相关死亡率的影响.
- 引导基因选择用于通用BC生殖线检测的基因.
主要方法:
- 欧洲医学瘤学会 (ESMO) 精密瘤学工作组组建了一个国际专家工作组 (EWG).
- 根据BC风险估计,临床可行性和对癌症相关死亡率的影响,开发了一个框架来评估BCSG.
- 评分BCSG,以确定其临床公共卫生净效用.
主要成果:
- 六种BCSG被确定对与癌症相关的死亡率产生高或中等影响:BRCA1,BRCA2,PALB2,RAD51C,RAD51D和TP53 (对于诊断为BC的年龄<40岁). 也可能包括BRIP1.
- 尽管存在潜在的BC风险估计价值,但CHEK2和ATM被认为不足以改善与癌症相关的死亡率.
- 强烈反对将"综合征"基因 (例如STK11,PTEN,NF1,CDH1) 纳入其中.
结论:
- 前期BC-MGPT中的基因选择决定了已识别的GPV载体的数量和类型.
- 对GPV携带者进行长期监测和降低风险的手术的潜在危害和成本必须通过可证明的癌症相关死亡率或生活质量的改善来证明.
- 基于证据的基因选择对于优化生殖系遗传测试在乳腺癌管理中的实用性至关重要.
相关概念视频
Cancer Prevention
6.3K
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...
6.3K
Cancer-Critical Genes II: Tumor Suppressor Genes
8.2K
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...
8.2K
Targeted Cancer Therapies
7.8K
The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...
There are several types of targeted therapies against...
7.8K
Cancer-Critical Genes I: Proto-oncogenes
9.2K
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...
9.2K


