努力在祖先多样化和混杂人群中发展基因组研究
Stephanie L Schmit1,2, Kristen Purrington3,4, Jane C Figueiredo5
1Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio.
Cancer research
|August 1, 2023
概括
乳腺癌的基因组分析在西班牙裔/拉丁裔妇女发现类似的驱动基因突变,但也独特的变化,如COSMIC签名16和新的17q11.2放大,强调在癌症研究中需要多样化的人口研究.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 癌症研究 癌症研究
背景情况:
- 鉴定不同人群中瘤的基因组和分子格局对于了解癌症的全谱至关重要.
- 以前的研究主要集中在非西班牙裔白人人口中,可能缺少其他群体的关键变异.
研究的目的:
- 研究来自西班牙裔/拉丁裔女性乳腺瘤的基因组和分子变异.
- 将这些发现与非西班牙裔白人女性的发现进行比较,以确定人口特异性的差异.
- 强调在癌症研究中纳入多样化的群体的重要性,以推进基因组医学和公平.
主要方法:
- 乳腺瘤样本的比较基因组分析.
- 鉴定和分析已确定的乳腺癌驱动基因中的突变.
- 检测基因放大和突变特征的检测.
主要成果:
- 在西班牙裔/拉丁裔和非西班牙裔白人女性中观察到关键乳腺癌驱动基因 (例如,PIK3CA,TP53) 突变的类似患病率.
- 像MYC和ERBB2这样的驱动器中的反复放大也在两组之间可比.
- 重要的是,癌症体质突变目录 (COSMIC) 签名16和一种新型的17q11.2放大在西班牙裔/拉丁裔女性的瘤中被发现.
结论:
- 在癌症基因组学研究中纳入祖先多样化和混合群体,加速发现并促进公平.
- 虽然共同的驱动突变是共享的,但在代表性不足的人群中存在独特的基因组改变.
- 需要更大规模的合作举措,以充分描述所有人群中的癌症基因组变异.
相关概念视频
01:25What is Population Genetics?
58.1K
A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
58.1K
02:02Genomics
36.5K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
36.5K
02:54Evolutionary Relationships through Genome Comparisons
5.8K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
5.8K
01:11Genome-wide Association Studies-GWAS
13.6K
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...
13.6K
01:25Genetic Variation
323
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
Genes exist in different versions called alleles,...
323
02:29Hybrid Zones
17.1K
Hybrid zones are narrow regions where two closely related species interact, mate, and produce hybrids. Relative to either parent species, hybrids may possess distinct phenotypic or genetic differences that impact their survival and reproductive success. The genetic variances introduced by hybridization influence species diversity and speciation processes within the hybrid zone.
17.1K