{"title":"在乳腺癌中应用全基因组和全外显子组测序：前景综述。","authors":"Hetvi Ganatra, Joecelyn Kirani Tan, Ana Simmons, Carola Maria Bigogno, Vatsala Khurana, Aruni Ghose, Adheesh Ghosh, Ishika Mahajan, Stergios Boussios, Akash Maniam, Olubukola Ayodele","doi":"10.1007/s12282-024-01628-9","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":56083,"journal":{"name":"Breast Cancer","volume":null,"pages":null},"PeriodicalIF":4.0000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489287/pdf/","citationCount":"0","resultStr":"{\"title\":\"Applying whole-genome and whole-exome sequencing in breast cancer: a review of the landscape.\",\"authors\":\"Hetvi Ganatra, Joecelyn Kirani Tan, Ana Simmons, Carola Maria Bigogno, Vatsala Khurana, Aruni Ghose, Adheesh Ghosh, Ishika Mahajan, Stergios Boussios, Akash Maniam, Olubukola Ayodele\",\"doi\":\"10.1007/s12282-024-01628-9\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":56083,\"journal\":{\"name\":\"Breast Cancer\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":4.0000,\"publicationDate\":\"2024-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489287/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Breast Cancer\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s12282-024-01628-9\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/8/27 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Breast Cancer","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12282-024-01628-9","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/27 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
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单核苷酸多态性（SNPs）方面发挥作用。这些技术有助于发现各种综合征与乳腺癌之间的关联，了解肿瘤微环境 (TME)，甚至识别未来可能用于个性化治疗的未知突变。基因分析可以发现与 BC 相关的风险，可用于肿瘤形成高风险患者的早期筛查、诊断、特定治疗计划和预防。本文重点介绍 WES 和 WGS 的应用，以及发现与 BC 相关的新型候选基因如何帮助治疗和预防 BC。
Applying whole-genome and whole-exome sequencing in breast cancer: a review of the landscape.
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.
期刊介绍：
Breast Cancer, the official journal of the Japanese Breast Cancer Society, publishes articles that contribute to progress in the field, in basic or translational research and also in clinical research, seeking to develop a new focus and new perspectives for all who are concerned with breast cancer. The journal welcomes all original articles describing clinical and epidemiological studies and laboratory investigations regarding breast cancer and related diseases. The journal will consider five types of articles: editorials, review articles, original articles, case reports, and rapid communications. Although editorials and review articles will principally be solicited by the editors, they can also be submitted for peer review, as in the case of original articles. The journal provides the best of up-to-date information on breast cancer, presenting readers with high-impact, original work focusing on pivotal issues.
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