相关实验视频

Updated: Jun 5, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

结合罕见和常见的遗传变异可以改善乳腺癌的人口风险分层

Alexandre Bolze¹, Daniel Kiser², Kelly M Schiabor Barrett¹

¹Helix, San Mateo, CA.

Genetics in medicine open

|December 13, 2024

概括

结合单基因和多基因风险评分的基因查有效地识别了患乳腺癌高风险的女性,改善了早期检测. 这种方法为乳腺癌风险评估提供了比单独的家族史更好的准确性.

科学领域:

遗传学遗传学是一个
在瘤学瘤学.
公共卫生公共卫生

背景情况:

家庭病史是传统的乳腺癌风险评估工具,但在早期查中往往未得到充分利用.
遗传因素在乳腺癌的发展中发挥着重要作用,需要先进的风险评估策略.

研究的目的:

评估各种遗传查方法的有效性,以识别一般人口中患乳腺癌高风险妇女.
将遗传风险评估与传统家族史方法的性能进行比较.

主要方法:

从健康内华达项目对25591名妇女进行了回顾性分析,并提供了电子健康记录和遗传数据.
基于高透基因 (BRCA1,BRCA2,PALB2,ATM,CHEK2) 和多基因风险得分 (PRS) 的预测功能丧失 (pLOF) 变异的风险评估.

主要成果:

使用单一基因变异 (BRCA1/2/PALB2,ATM/CHEK2) 和PRS的综合方法确定了女性的风险明显更高.
在ATM/CHEK2和PRS前50%的pLOF变异女性在70岁时患乳腺癌的概率为39.2%.
多基因风险分数分布进一步细化了单基因风险组内的风险分层.

结论:

综合基因查策略,整合单基因风险和多基因风险,可提供对乳腺癌高风险个体的优质鉴定.
这种综合遗传方法提高了乳腺癌风险评估的准确性,与传统方法相比,潜在地减少了假阳性.

关键词:

在ATM和CHEK2中,可以使用ATM和CHEK2.乳腺癌是什么? 乳腺癌是什么家庭历史家庭历史多基因风险评分多基因风险评分.人口查的人口查.

更多相关视频

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

相关概念视频

Genome-wide Association Studies-GWAS

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...

Combination Therapies and Personalized Medicine

Combination Therapies and Personalized Medicine

Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...