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遗传标记物与哈萨克族妇女早发性乳腺癌风险的关联。

Association of Genetic Markers with the Risk of Early-Onset Breast Cancer in Kazakh Women.

机构信息

Laboratory of Molecular Genetics, Institute of Genetics and Physiology, Almaty 050060, Kazakhstan.

Department of Molecular Biology and Genetics, Al-Farabi Kazakh National University, Almaty 050040, Kazakhstan.

出版信息

Genes (Basel). 2024 Jan 17;15(1):108. doi: 10.3390/genes15010108.

DOI:10.3390/genes15010108
PMID:38254997
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10815330/
Abstract

Breast cancer is a global health problem. It is an age-dependent disease, but cases of early-onset breast cancer (eBC) are gradually increasing. There are many unresolved questions regarding eBC risk factors, mechanisms of development and screening. Only 10% of eBC cases are due to mutations in the genes, and 90% have a more complex genetic background. This poses a significant challenge to timely cancer detection in young women and highlights the need for research and awareness. Therefore, identifying genetic risk factors for eBC is essential to solving these problems. This study represents an association analysis of 144 eBC cases and 163 control participants to identify genetic markers associated with eBC risks in Kazakh women. We performed a two-stage approach in association analysis to assess genetic predisposition to eBC. First-stage genome-wide association analysis revealed two risk intronic loci in the gene ( = 5.2 × 10) and gene ( = 8.4 × 10). Second-stage exonic polymorphisms haplotype analysis showed significant risks for seven haplotypes ( < 9.4 × 10). These results point to the importance of studying medium- and low-penetrant genetic markers in their haplotype combinations for a detailed understanding of the role of detected genetic markers in eBC development and prediction.

摘要

乳腺癌是一个全球性的健康问题。它是一种与年龄相关的疾病，但早发性乳腺癌（eBC）的病例正在逐渐增加。关于 eBC 的风险因素、发病机制和筛查，仍有许多悬而未决的问题。只有 10%的 eBC 病例是由 基因突变引起的，而 90%的病例具有更复杂的遗传背景。这对年轻女性的及时癌症检测构成了重大挑战，突显了研究和意识的必要性。因此，确定 eBC 的遗传风险因素对于解决这些问题至关重要。本研究代表了对 144 例 eBC 病例和 163 例对照参与者的关联分析，以确定与哈萨克族妇女 eBC 风险相关的遗传标记。我们采用两阶段关联分析方法来评估 eBC 的遗传易感性。第一阶段全基因组关联分析显示， 基因（ = 5.2 × 10）和 基因（ = 8.4 × 10）中的两个风险内含子位点。第二阶段外显子多态性单体型分析显示，七种单体型具有显著风险（ < 9.4 × 10）。这些结果表明，研究中等到低外显率遗传标记及其单体型组合，对于详细了解已检测遗传标记在 eBC 发生和预测中的作用非常重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe2f/10815330/0d6be95d121e/genes-15-00108-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe2f/10815330/a485649961f4/genes-15-00108-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe2f/10815330/12d108c6442f/genes-15-00108-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe2f/10815330/884239b998de/genes-15-00108-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe2f/10815330/41371bc60a90/genes-15-00108-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe2f/10815330/0d6be95d121e/genes-15-00108-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe2f/10815330/a485649961f4/genes-15-00108-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe2f/10815330/12d108c6442f/genes-15-00108-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe2f/10815330/884239b998de/genes-15-00108-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe2f/10815330/41371bc60a90/genes-15-00108-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe2f/10815330/0d6be95d121e/genes-15-00108-g005.jpg

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