在 BRCA1 或 BRCA2 突变家族中进行症状前的 DNA 测试和预防性手术
E J Meijers-Heijboer1, L C Verhoog, C T Brekelmans
1Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
Lancet (London, England)
|July 8, 2000
概括
具有BRCA1/BRCA2突变高风险的未受影响女性对基因检测和预防性手术的需求很高. 特别是有孩子的年轻女性选择DNA测试和乳腺切除术.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 预防医学 预防医学
背景情况:
- 在BRCA1和BRCA2基因的生殖基因突变显著增加乳腺和卵巢癌的风险.
- 在危险家庭中识别突变载体对于实施监测和预防策略至关重要.
研究的目的:
- 评估已知BRCA1或BRCA2突变的家庭中预症状DNA测试和预防性手术的采用情况.
- 为了确定DNA测试和预防性手术决策的预测因素.
主要方法:
- 在鹿特丹家庭癌症诊所对53个已知BRCA1/BRCA2突变家族进行前性评估.
- 使用单变量和多变量分析来确定测试和手术吸收的预测因素.
主要成果:
- 48%的女性和22%的男性选择了症状前的DNA测试.
- 在女性中,年轻人,有孩子的人,以及前测试遗传风险较高的人中,DNA测试的吸收率更高.
- 在突变阳性女性中,51%接受了预防性乳房切除术,64%接受了预防性卵巢切除术;育儿预测了乳房切除术,而年龄预测了卵巢切除术.
结论:
- 没有受影响的有风险的妇女对BRCA1/BRCA2遗传测试的需求很高.
- 携带突变的女性显着接受预防性手术,年轻的女性有孩子更喜欢切除乳腺.
相关概念视频
Pedigree Analysis
Overview
Cancer 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...
Targeted Cancer Therapies
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 specific...
There are several types of targeted therapies against specific...
Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
Preventive Healthcare Services
Preventive healthcare services keep people healthy via frequent check-ups, screening, and counseling. They primarily aid in disease prevention rather than treating an acute or chronic illness. Preventive treatment also keeps individuals productive and energetic, allowing them to work well into their retirement years. Examples of preventive care services include:
Cancer 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...


