Barts Cancer Institute, Cancer Research UK City of London, Queen Mary University of London, London, UK.
School of Medicine, University of St. Andrews, Fife, Scotland, UK.
Breast Cancer. 2024 Nov;31(6):999-1009. doi: 10.1007/s12282-024-01628-9. Epub 2024 Aug 27.
Whole-genome sequencing (WGS) and whole-exome sequencing (WES) are crucial within the context of breast cancer (BC) research. They play a role in the detection of predisposed genes, risk stratification, and identification of rare single nucleotide polymorphisms (SNPs). These technologies aid in the discovery of associations between various syndromes and BC, understanding the tumour microenvironment (TME), and even identifying unknown mutations that could be useful in future for personalised treatments. Genetic analysis can find the associated risk of BC and can be used in early screening, diagnosis, specific treatment plans, and prevention in patients who are at high risk of tumour formation. This article focuses on the application of WES and WGS, and how uncovering novel candidate genes associated with BC can aid in treating and preventing BC.
全基因组测序（WGS）和全外显子组测序（WES）在乳腺癌（BC）研究中至关重要。它们在检测易感基因、风险分层和鉴定罕见的单核苷酸多态性（SNP）方面发挥着作用。这些技术有助于发现各种综合征与 BC 之间的关联，了解肿瘤微环境（TME），甚至发现未知的突变，这些突变可能在未来的个体化治疗中有用。遗传分析可以发现与 BC 相关的风险，并可用于高危肿瘤形成患者的早期筛查、诊断、特定治疗计划和预防。本文重点介绍 WES 和 WGS 的应用，以及揭示与 BC 相关的新候选基因如何有助于治疗和预防 BC。
