[以色列女性的BRCA中特定的基因变异的基因型-表型相关性]
Rachel Michaelson-Cohen1, Yael Laitman2, Inbal Kedar3
1Medical Genetics Institute, Shaare Zedek Medical Center, Faculty of Medicine, Hebrew University of Jerusalem.
Harefuah
|July 2, 2023
概括
与BRCA2携带者相比,BRCA1携带者面临更高的癌症风险和早期诊断. 特定的BRCA1变异,5382insC和185delAG分别显示出乳腺癌和卵巢癌的明显风险.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 人口健康 人口健康
背景情况:
- 遗传性乳腺和卵巢癌 (HBOC) 主要是由BRCA1/BRCA2基因致病变体 (PVs) 引起的.
- 在以色列阿什基纳兹犹太人 (AJ) 中,针对复发性PV的人口查增加了BRCA载体的识别.
- 在以色列人口中,与特定的PV相关的癌症风险存在有限的数据.
研究的目的:
- 评估以色列载体中常见的BRCA PVs的基因型-表型相关性.
- 为了确定与特定的BRCA1和BRCA2PVs相关的癌症风险,在定义的人群中.
主要方法:
- 来自HBOC联盟的3,478名BRCA载体的回顾性队列研究.
- 通过电子数据库收集的数据,并使用千平方测试,t测试和卡普兰-梅尔生存分析进行分析.
主要成果:
- 与BRCA2携带者 (n=1131) (44.8%) 相比,BRCA1携带者 (n=2145) 的癌症发病率 (53.1%) 更高.
- BRCA1携带者在年轻时被诊断出患有乳腺癌 (BC) 和卵巢癌 (OC).
- 与BRCA15382insC携带者相比,BC风险增加,而BRCA1185delAG携带者相比,OC风险增加.
结论:
- 与以色列人口中的BRCA2携带者相比,BRCA1携带者表现出更高的癌症率和早期发病率.
- 独特的癌症风险与特定的复发性BRCA1PVs相关 (5382insC为BC,OC为185delAG).
- 变异特异性风险评估对于实施有效的风险降低策略至关重要.
相关概念视频
Human Genetics
619
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
619
Genome-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
Genetic Variation
329
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,...
329
Single Nucleotide Polymorphisms-SNPs
15.3K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.3K
X-linked Traits
55.0K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
55.0K
Heritability
238
Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic"...
238


