前列腺癌BRCA1和BRCA2突变检测：福尔马林固定石蜡包埋（FFPE）和血液样本的检测。

IF 2.9 4区医学 Q2 PATHOLOGY

Pathology, research and practice Pub Date : 2025-02-01 DOI:10.1016/j.prp.2024.155803

Giuseppa Zannini , Gaetano Facchini , Marco De Sio , Ferdinando De Vita , Francesca Pagliuca , Renato Franco , Federica Zito Marino

{"title":"前列腺癌BRCA1和BRCA2突变检测：福尔马林固定石蜡包埋（FFPE）和血液样本的检测。","authors":"Giuseppa Zannini , Gaetano Facchini , Marco De Sio , Ferdinando De Vita , Francesca Pagliuca , Renato Franco , Federica Zito Marino","doi":"10.1016/j.prp.2024.155803","DOIUrl":null,"url":null,"abstract":"<div><div>Prostate cancer (PC) represents one of the leading causes of cancer-related morbidity and mortality in men, requiring further understanding to improve diagnosis and treatment. Germline <em>BRCA1/2</em> mutations, primarily identified in other hereditary cancers, confer an increased risk of developing PC; thus, testing is essential to assess cancer risk, guiding preventive strategies and screening. Recently, somatic <em>BRCA1/2</em> mutations have emerged as pivotal predictive biomarkers of responsiveness to the poly ADP-ribose polymerase (PARP) inhibitors. This review provides a comprehensive overview of <em>BRCA1/2</em> mutations testing in PC, focusing on the germline and somatic mutations frequencies and the technical approach for their identification. A revision of the main data reported in the literature regarding <em>BRCA1/2</em> mutations identification will be presented, highlighting the critical issue for the detection both in formalin fixed paraffin embedded (FFPE) and blood samples.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"266 ","pages":"Article 155803"},"PeriodicalIF":2.9000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"BRCA1 and BRCA2 mutations testing in prostate cancer: Detection in formalin fixed paraffin embedded (FFPE) and blood samples\",\"authors\":\"Giuseppa Zannini , Gaetano Facchini , Marco De Sio , Ferdinando De Vita , Francesca Pagliuca , Renato Franco , Federica Zito Marino\",\"doi\":\"10.1016/j.prp.2024.155803\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Prostate cancer (PC) represents one of the leading causes of cancer-related morbidity and mortality in men, requiring further understanding to improve diagnosis and treatment. Germline <em>BRCA1/2</em> mutations, primarily identified in other hereditary cancers, confer an increased risk of developing PC; thus, testing is essential to assess cancer risk, guiding preventive strategies and screening. Recently, somatic <em>BRCA1/2</em> mutations have emerged as pivotal predictive biomarkers of responsiveness to the poly ADP-ribose polymerase (PARP) inhibitors. This review provides a comprehensive overview of <em>BRCA1/2</em> mutations testing in PC, focusing on the germline and somatic mutations frequencies and the technical approach for their identification. A revision of the main data reported in the literature regarding <em>BRCA1/2</em> mutations identification will be presented, highlighting the critical issue for the detection both in formalin fixed paraffin embedded (FFPE) and blood samples.</div></div>\",\"PeriodicalId\":19916,\"journal\":{\"name\":\"Pathology, research and practice\",\"volume\":\"266 \",\"pages\":\"Article 155803\"},\"PeriodicalIF\":2.9000,\"publicationDate\":\"2025-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pathology, research and practice\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0344033824007143\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pathology, research and practice","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0344033824007143","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PATHOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

前列腺癌（PC）是男性癌症相关发病率和死亡率的主要原因之一，需要进一步了解以提高诊断和治疗。生殖系BRCA1/2突变，主要在其他遗传性癌症中发现，可增加患PC的风险；因此，检测对于评估癌症风险、指导预防策略和筛查至关重要。最近，体细胞BRCA1/2突变已成为对聚adp核糖聚合酶（PARP）抑制剂反应性的关键预测性生物标志物。本文综述了PC中BRCA1/2突变检测的全面概述，重点介绍了生殖系和体细胞突变频率及其鉴定的技术方法。本文将对文献中报道的BRCA1/2突变鉴定的主要数据进行修订，强调在福尔马林固定石蜡包埋（FFPE）和血液样本中检测的关键问题。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

BRCA1 and BRCA2 mutations testing in prostate cancer: Detection in formalin fixed paraffin embedded (FFPE) and blood samples

Prostate cancer (PC) represents one of the leading causes of cancer-related morbidity and mortality in men, requiring further understanding to improve diagnosis and treatment. Germline BRCA1/2 mutations, primarily identified in other hereditary cancers, confer an increased risk of developing PC; thus, testing is essential to assess cancer risk, guiding preventive strategies and screening. Recently, somatic BRCA1/2 mutations have emerged as pivotal predictive biomarkers of responsiveness to the poly ADP-ribose polymerase (PARP) inhibitors. This review provides a comprehensive overview of BRCA1/2 mutations testing in PC, focusing on the germline and somatic mutations frequencies and the technical approach for their identification. A revision of the main data reported in the literature regarding BRCA1/2 mutations identification will be presented, highlighting the critical issue for the detection both in formalin fixed paraffin embedded (FFPE) and blood samples.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Pathology, research and practice 医学-病理学

CiteScore

5.00

自引率

3.60%

发文量

405

审稿时长

24 days

期刊介绍： Pathology, Research and Practice provides accessible coverage of the most recent developments across the entire field of pathology: Reviews focus on recent progress in pathology, while Comments look at interesting current problems and at hypotheses for future developments in pathology. Original Papers present novel findings on all aspects of general, anatomic and molecular pathology. Rapid Communications inform readers on preliminary findings that may be relevant for further studies and need to be communicated quickly. Teaching Cases look at new aspects or special diagnostic problems of diseases and at case reports relevant for the pathologist''s practice.